Multiple
Sclerosis
Muscular
Dystrophy
Cerebral
Palsy
Courtney
Barnum, Carlie Jackson, Gretchen Balkman
Table
of Contents
3 Multiple Sclerosis
3 Definition
4 Types
4 Causes
6 Who
7 Signs and Symptoms
9 Diagnosis
11 Treatments
12 Role of Therapeutic Recreation
12 Resources
15 Muscular Dystrophy
15 Definition
15 Types
18 Causes
18 Signs and Symptoms
19 Diagnosis
20 Specific Needs
20 Treatments
21 Role of Therapeutic Recreation
21 Resources
23 Cerebral Palsy
23 Definition
24 Types
30 Causes
32 Signs and Symptoms
34 Diagnosis
37 Risk Factors
38 Treatments
40 TR Implications
42 Resources
Definition of
Multiple Sclerosis
Multiple
sclerosis (or MS) is a chronic, often disabling disease that attacks
the central nervous system (CNS), which is made up of the brain,
spinal cord, and optic nerves.
As part of the immune attack on the central nervous system, myelin
(the fatty substance that surrounds and protects the nerve fibers in
the central nervous system) is damaged, as well as the nerve fibers
themselves. The damaged myelin forms scar tissue (sclerosis), which
gives the disease its name. When any part of the myelin sheath or
nerve fiber is damaged or destroyed, nerve impulses traveling to and
from the brain and spinal cord are distorted or interrupted,
producing the variety of symptoms that can occur.
Symptoms may be mild, such as numbness in the limbs, or severe, such
as paralysis or loss of vision. The progress, severity, and specific
symptoms of MS are unpredictable and vary from one person to another.
Today, new treatments and advances in research are giving new hope to
people affected by the disease.
MS
is a chronic and unpredictable
MS
is not contagious, and is not directly inherited
Many
people with MS live a normal life and have normal or near-normal life
expectancy.
Majority of
people with MS do not become severely disabled.
Types of
Multiple Sclerosis
Multiple
Sclerosis is typically classified as one of four types: Relapsing
Remitting, Secondary Progressive, Primary Progressive, &
Progressive Relapsing.
- Relapsing Remitting: Relapsing-Remitting MS is characterized by unpredictable episodes of symptoms followed by periods remission with no disease activity. Deficits suffered during these episodes or attacks may either resolve or leave suddenly. Approximately 85% of individuals with MS initially experience relapsing remitting MS.
- Secondary Progressive: Secondary progressive MS (“galloping MS”) describes those with an initial relapsing-remitting MS, who then begin to have progressive neurological decline between acute attacks without any definite periods of remission. The median time between disease onset and conversion from relapsing-remitting to secondary progressive MS is 19 years.
- Primary Progressive: Primary Progressive MS afflicts approximately 10–15% of individuals with MS. It is characterized by progression of disability from onset with no remissions and improvements.
- Progressive Relapsing: Progressive Relapsing MS describes those individuals who, from onset, have a steady neurological decline but also suffer clear superimposed attacks. This is the least common of all subtypes of MS. Atypical variants of MS with non-standard behavior have been described and associated with Progressive Relapsing MS.
Causes of
Multiple Sclerosis
While the cause of MS is still not known, scientists believe that a
combination of several factors may be involved. Studies are ongoing
in the areas of immunology (the science of the body’s immune
system), epidemiology (that looks at patterns of disease in the
population), and genetics in an effort to answer this important
question. Understanding what causes MS will be an important step
toward finding more effective ways to treat it and—ultimately—cure
it, or even prevent it from occurring in the first place.
The major
scientific theories about the causes of MS include the following:
- Immunologic
It is now
generally accepted that MS involves an immune-mediated process—an
abnormal response of the body’s immune system that is directed
against the myelin (the fatty sheath that surrounds and insulates the
nerve fibers) in the central nervous system (CNS—the brain, spinal
cord and optic nerves). The exact antigen, or target that the immune
cells are sensitized to attack, remains unknown -- which is why MS is
considered by most experts to be immune-mediated rather than
autoimmune. In recent years, however, researchers have been able to
identify which immune cells are mounting the attack, some of the
factors that cause them to attack, and some of the sites, or
receptors, on the attacking cells that appear to be attracted to the
myelin to begin the destructive process.
- Environmental
MS is known to
occur more frequently in areas that are farther from the equator.
Epidemiologists—scientists who study disease patterns—are looking
at many factors, including variations in geography, demographics
(age, gender, and ethnic background), genetics, infectious causes,
and migration patterns, in an effort to understand why. Studies of
migration patterns have shown that people born in an area of the
world with a high risk of MS who then move to an area with a lower
risk before the age of 15, acquire the risk of their new area. Such
data suggest that exposure to some environmental agent that occurs
before puberty may predispose a person to develop MS later on.
Some scientists
think the reason may have something to do with vitamin D, which the
human body produces naturally when the skin is exposed to sunlight.
People who live closer to the equator are exposed to greater amounts
of sunlight year-round. As a result, they tend to have higher levels
of naturally-produced vitamin D, which is thought to have a
beneficial impact on immune function and may help protect against
autoimmune diseases like MS.
Other scientists
study MS clusters—which are defined as higher-than-expected numbers
of cases of MS that have occurred over a specific time period and/or
in a certain area. These clusters are of interest because they may
provide clues to environmental (such as environmental and industrial
toxins, diet, or trace metal exposures) factors that might cause or
trigger the disease. So far, cluster studies have not produced clear
evidence for the existence of any triggering factor or factors in MS.
- Infectious
Since initial
exposure to numerous viruses, bacteria and other microbes occurs
during childhood, and since viruses are well recognized as causes of
demyelination and inflammation, it is possible that a virus or other
infectious agent is the triggering factor in MS. More than a dozen
viruses and bacteria, including measles, canine distemper, human
herpes virus-6, Epstein-Barr, and Chlamydia pneumonia have been or
are being investigated to determine if they are involved in the
development of MS, but none have been definitively proven to trigger
- Genetic
While MS is not
hereditary in a strict sense, having a first-degree relative such as
a parent or sibling with MS increases an individual's risk of
developing the disease several-fold above the risk for the general
population. Studies have shown that there is a higher prevalence of
certain genes in populations with higher rates of MS. Common genetic
factors have also been found in some families where there is more
than one person with MS. Some researchers theorize that MS develops
because a person is born with a genetic predisposition to react to
some environmental agent that, upon exposure, triggers an autoimmune
response.
Who
Gets Multiple Sclerosis?
MS
is thought to affect more than 2.1 million people worldwide. While
the disease is not contagious or directly inherited,
epidemiologists—the scientists who study patterns of disease—have
identified factors in the distribution of MS around the world that
may eventually help determine what causes the disease. These factors
include gender, genetics, age, geography, and ethnic background.
Patterns
in the Distribution of MS
MS
is significantly more common (at least 2-3 times) in women than men.
MS
is not directly inherited, but genetics play an important role
in who gets the disease. While the risk of developing MS in the
general population is 1/750, the risk rises to 1/40 in anyone who has
a close relative (parent, sibling, child) with the disease.
In
families in which several people have been diagnosed with MS, the
risk may be even higher. Even though identical twins share the same
genetic makeup, the risk for an identical twin is only 1/4—which
means that some factor(s) other than genetics are involved.
While
most people are diagnosed between the ages of 20 and 50, MS can
appear in young children and teens as well as much older adults.
In
all parts of the world, MS is more common at northern latitudes that
are farther from the equator and less common in areas closer to the
equator.
MS
occurs in most ethnic groups, including African-Americans, Asians and
Hispanics/Latinos, but is more common in Caucasians of northern
European ancestry. However some ethnic groups, such as the Inuit,
Aborigines and Maoris, have few if any documented cases of MS
regardless of where they live. These variations that occur even
within geographic areas with the same climate suggest that geography,
ethnicity, and other factors interact in some complex way.
Symptoms
of Multiple Sclerosis
MS is associated
with a large variety of symptoms. Few people experience all of the
possible changes that can occur. These symptoms can come and go and
are not the same in every person.
Symptoms vary, because the location and severity of
each attack can be different. Episodes can last for days, weeks, or
months. These episodes alternate with periods of reduced or no
symptoms (remissions).
Fever, hot baths,
sun exposure, and stress can trigger or worsen attacks.
It is common for
the disease to return (relapse). However, the disease may continue to
get worse without periods of remission.
Because nerves in
any part of the brain or spinal cord may be damaged, patients with
multiple sclerosis can have symptoms in many parts of the body.
- Bladder problems appear in 80% of MS patients. The most common problems are an increase of frequency and incontinence. Some with Multiple Sclerosis have inability to begin urination, leaking, retention, and sensation of full bladder. Urinary tract infections are common with MS.
- Cognitive impairments occur in about 40 to 60 percent of patients with multiple sclerosis. Some of the most common deficits are in recent memory, attention, processing speed, emotional instability, visual-spatial abilities, and executive function. Symptoms range from mild to severe. Dementia is uncommon with Multiple Sclerosis.
- Emotional symptoms are common with Multiple Sclerosis. Clinical depression is the most common emotional condition associated with MS. Depression rates of those with MS is higher than the general population as well as other persons/groups who are diagnosed with chronic illnesses. Suicide accounts for approximately of 15% of deaths of person diagnosed with Multiple Sclerosis.
- Fatigue is a common and often disabling symptom of MS. When evaluating fatigue associated with MS, depression should also be evaluated and treated as it’s symptoms may cause fatigue.
- Restrictions in mobility are common in individuals suffering from multiple sclerosis. Most persons diagnosed with MS will have difficulty walking or in mobility and require use of an aid or wheelchair at some point. One third of persons diagnosed will require use of such devices within 5 years of diagnosis.
- Vision Problems are very common in MS. Up to 50% of patients with MS will develop an episode of optic neuritis. Individuals experience rapid onset of pain in one eye, followed by blurry vision. The blurred vision usually goes away but the person may have decrease color vision or decreased ability to focus. Many persons with MS also experience episodes of double vision and involuntary eye movement which make focusing difficult.
- Chronic Pain is a common symptom in MS. It usually appears after a lesion to the ascending or descending tracts that control the transmission of painful stimulus. Acute temporary pain is common as well as the result of the disease process. Narcotic pain control methods are typically effective for treating pain associated with MS.
- Lhermitte’s sign is an electrical sensation that runs down the back and into the limbs. The sign suggests a lesion of the dorsal columns of the cervical cord. Between 25 and 40% of MS patients report having Lhermitte’s sign during the course of the disease process.
- Dysesthesias are abnormal sensations produced by ordinary activities. The abnormal sensations are often described as painful feelings such as burning, itching, electricity, or pins and needle. These are caused by lesions of the sensory pathways.
- Sexual dysfunction often affects those with MS. The prevalence of Sexual dysfunction in men with MS is around 85%. Erectile dysfunction is the most documented sexual symptom in MS.
- Spasticity is common in MS. Spasticity is characterized by increased stiffness in limb movement, development of certain postures, weakness of voluntary muscle power, and involuntary spasms.
- Transverse myelitis is a rapid onset of numbness, weakness, and loss of muscle function in the lower half of the body. This is the result of MS attacking the spinal cord. The symptoms and signs depend upon the level of the spinal cord involved and the extent of the involvement. Prognosis for complete recovery is generally poor. Roughly 80% of individuals with transverse myelitis have permanent symptoms from transverse myelitis.
- Tremors are frequent and common with MS. Tremors can be serve and disabling. Commonly individuals with MS will experience tremors in the hands, arms, and legs.
Less Common
Symptoms Include:
- Speech Disorders
- Swallowing Problems
- Headache
- Hearing Loss
- Seizures
- Respiration / Breathing Problems
- Itching
Diagnosing
Multiple Sclerosis
At this time,
there are no symptoms, physical findings or laboratory tests that
can, by themselves, determine if a person has MS. The doctor uses
several strategies to determine if a person meets the
long-established criteria for a diagnosis of MS and to rule out other
possible causes of whatever symptoms the person is experiencing.
These strategies include a careful medical history, a neurologic exam
and various tests, including magnetic resonance imaging (MRI),
evoked potentials (EP) and spinal fluid analysis.
The
Criteria for a Diagnosis of MS
In order to make
a diagnosis of MS, the physician must:
- Find evidence of damage in at least two separate areas of the central nervous system (CNS), which includes the brain, spinal cord and optic nerves AND
- Find evidence that the damage occurred at least one month apart AND
- Rule out all other possible diagnoses
Tools
for making the diagnosis:
- Medical History and Neurologic Exam
The physician
takes a careful history to identify any past or present symptoms that
might be caused by MS and to gather information about birthplace,
family history and places traveled that might provide further clues.
The physician also performs a variety of tests to evaluate mental,
emotional and language functions, movement and coordination,
balance, vision,
and the other four senses.
In many
instances, the person’s medical history and neurologic exam provide
enough evidence to meet the diagnostic criteria. Other tests are used
to confirm the diagnosis or provide additional evidence if it’s
necessary.
- MRI
MRI is
the best imaging technology for detecting the presence of MS plaques
or scarring (also called lesions) in different parts of the CNS. It
can also differentiate old lesions from those that are new or active.
The diagnosis of
MS cannot be made solely on the basis of MRI because there are other
diseases that cause lesions in the CNS that look like those caused by
MS. And even people without any disease — particularly the elderly
— can have spots on the brain that are similar to those seen in MS.
Although MRI is a
very useful diagnostic tool, a normal MRI of the brain does not rule
out the possibility of MS. About 5% of people who are confirmed to
have MS do not initially have brain lesions on MRI. However, the
longer a person goes without brain or spinal cord lesions on MRI, the
more important it becomes to look for other possible diagnoses.
3. Evoked Potential Tests
Evoked
potential (EP) tests are recordings of the nervous system's
electrical response to the stimulation of specific sensory pathways
(e.g., visual, auditory, general sensory). Because damage
to myelin (demyelination)
results in a slowing of response time, EPs can sometimes provide
evidence of scarring along nerve pathways that does not show up
during the neurologic exam. Visual evoked potentials are
considered the most useful for confirming the MS diagnosis.
4. Cerebrospinal Fluid Analysis
Analysis
of the cerebrospinal fluid, which is sampled by a spinal tap,
detects the levels of certain immune system proteins and the presence
of oligoclonal bands. These bands, which indicate an immune response
within the CNS, are found in the spinal fluid of about 90-95% of
people with MS. But because they are present in other diseases as
well, oligoclonal bands cannot be relied on as positive proof of MS.
5. Blood Tests
While there is no
definitive blood test for MS, blood tests can rule
out other conditions that cause symptoms similar to those of
MS, including Lyme disease, a group of diseases known as
collagen-vascular diseases, certain rare hereditary disorders, and
AIDS.
Treatment
for Multiple Sclerosis
Although there is
still no cure for MS, effective strategies are available to modify
the disease course, treat exacerbations (also called attacks,
relapses, or flare-ups), manage symptoms, improve function and
safety, and provide emotional support. In combination, these
treatments enhance the quality of life for people living with MS.
Modifying the
Disease Course. The following agents can reduce disease activity
and disease progression for many individuals with relapsing forms of
MS, including those with secondary progressive disease who continue
to have relapses. Aubagio (teriflunomide), Avonex
(interferon beta-1a), Betaseron (interferon beta-1b),
Copaxone (glatiramer acetate), Extavia (interferon beta-1b),
Gilenya (fingolimod), Novantrone (mitoxantrone), Rebif
(interferon beta-1a), Tysabri (natalizumab)
Managing
Symptoms. Symptoms of MS are highly variable from person to
person and from time to time in the same individual. While symptoms
can range from mild to severe, most can be successfully managed with
strategies that include medication, self-care techniques,
rehabilitation (with a physical or occupation therapist,
speech/language pathologist, cognitive remediation specialist, among
others), and the use of assistive devices.
Promoting
Function through Rehabilitation. Rehabilitation programs
focus on function—they are designed to help you improve or
maintain your ability to perform effectively and safely at home and
at work. Rehabilitation professionals focus on overall fitness and
energy management, while addressing problems with accessibility and
mobility, speech and swallowing, and memory and other cognitive
functions.
Rehabilitation is
an important component of comprehensive, quality health care for
people with MS, at all stages of the disease. Rehabilitation
programs include:
- Physical Therapy
- Occupational Therapy
- Therapy for Speech and Swallowing Problems
- Cognitive Rehabilitation
- Vocational Rehabilitation
TR
Implications
Recreation
therapy professionals see very few cases where the MS actually
patient improves. This presents challenges: goals written to maintain
functional ability, maintain range of motion and socialization; goals
modified continually as the disease progresses; objectives dynamic.
Healing is paramount. Adaptive equipment, universal design, supports
and attitude makes life bearable.
Treatments
focused upon symptom reduction and management. The goal is to
maximize the individuals independent functioning and to maintain as
much of his or her pre-illness lifestyle as possible.
Outcomes:
mastery, self-efficacy, self-discover, self-control, stress
management, adjustment to disability, improved body image, sense of
self.
Resources
and Organizations
There are several
organizations that can help you find accurate and useful resources
for dealing with MS. Some of these organizations have local chapters,
support groups and events to help you connect with other people with
MS. Other organizations are more focused on research and medical
news.
1. National
Multiple Sclerosis Society
The National
Multiple Sclerosis Society is the largest and most famous of MS
organizations with chapters in every state. The MS Society joins
researchers and celebrities to raise the awareness of MS nationwide.
Whether you are looking for a support group or trying to
understanding the latest research, the MS Society can help.
2.
MedlinePlus: MS Webpage
MedlinePlus is a
service of the National Library of Medicine that helps the average
person to understand many health conditions. MedlinePlus contains
links to federal and other organizations with information on the
medical aspects of a wide range of diseases and conditions. This is a
good website to check for links on the latest NIH research and
patient information pages.
3. National
Institute of Neurological Disorders and Stroke (NIH-NINDS)
The National
Institute of Neurological Disorders and Stroke (NINDS) is the NIH
Institute that leads research on MS. NINDS occasionally publishes
information pages for non-medical professionals that will give an
overview of MS. You can also find lists of current research on MS,
clinical trials and recent scientific publications.
4. Multiple
Sclerosis International Federation (MSIF)
For a global
perspective on MS research, news and treatment, visit the Multiple
Sclerosis International Foundation's website. You will find an
overview of MS, a bibliography of MS research, news about
international MS events, and information about MS in other countries.
The MSIF's Atlas of MS has a series of interactive maps that provide
data about MS rates throughout the world.
5. National
Multiple Sclerosis Foundation (MSF)
Founded in 1986,
this Florida-based organization seeks to "ensure the best
quality of life for those coping with MS by providing comprehensive
support and educational programs." The MSF conducts fundraising
for a number of service and educational projects for people with MS.
6. Multiple
Sclerosis Association of America (MSAA)
Founded in 1970,
the MSAA is a national organization that provides programs and
services for people affected by MS. The MSAA has regional offices and
can help connect you with MS resources in your area. The organization
conducts fundraising, educational and support events regularly.
7. Rocky
Mountain MS Center
The for-fee
informational website has one the most comprehensive information on
Complementary and Alternative Medicine (CAM) and MS. For a 20 dollar
fee, a person can have access to discussion boards, information pages
and more. The Rocky Mountain MS Center is a non-profit center focused
on providing information about CAM and MS. As always, check with your
doctor before using any CAM therapy.
8. Consortium
of Multiple Sclerosis Centers (CMSC)
This organization
is committed "To be the preeminent professional organization for
Multiple Sclerosis healthcare providers and researchers in North
America, and a valued partner in the global MS community. Our core
purpose is to maximize the ability of MS healthcare providers to
impact care of people who are affected by MS, thus improving their
quality of life." The CMSC website is a great place to learn
about some of the latest developments in MS research and treatment.
Sources
Muscular
Dystrophy (MD)
Definition of Muscular Dystrophy
Muscular Dystrophy is a group of more
than 30 progressively degenerative genetic diseases in which muscle
fibers are unusually susceptible to damage. The damaged muscles
become progressively weaker. Some forms of MD occur in young boys as
a young age and some don't show symptoms until adulthood. Some over
all symptoms include weak muscles, trouble breathing, trouble
swallowing, limbs drawn inward, contracture (limbs fixed inward) and
often heart or other organ problems.
Types of Muscular Dystrophy
Childhood Types
Duchenne Muscular Dystrophy
About half of all muscular dystrophy
cases are the Duchenne variety, and occurs most commonly in young
boys. It is the most severe type of MD, taking lives before the boys
reach 30. Duchenne MD is the most common childhood form of MD and
also the most common form of MD overall (approximately 50 percent of
MD cases). These symptoms first surface when the child begins to walk
and may include:
- Frequent falls
- Difficulty getting up from a lying position
- Trouble running and jumping
- Waddling gait (weak pelvis)
- Large calf muscles (from fat deposits and build up)
- Learning disabilities
Duchenne MD is inherited through the
X-Chromosome and 2/3 of cases are run in families while the rest
reflect new mutation.
Becker Muscular Dystrophy
Becker MD is less severe than but
closely related to Duchenne MD. Persons with Becker MD have partial
but insufficient function of the protein dystrophin. The disorder
usually appears around age 11 but may occur as late as the age of 25.
Many patients are able to walk past their teens and some affected may
never need a wheelchair. Early symptoms of Becker MD include walking
on one's toes, frequent falls, and difficulty rising from the floor.
Calf muscles may appear large and muscle activity may cause cramps in
some people. Cardiac and mental impairments are not as severe as in
Duchenne MD.
Congenital Muscular Dystrophy
This form of MD refers to a group of
autosomal recessive muscular dystrophies that are either present at
birth or become evident before age 2. They affect both boys and
girls. The degree and progression of muscle weakness and degeneration
vary with the type of disorder. Weakness may be first noted when
children fail to meet landmarks in motor function and muscle control.
Muscle degeneration may be mild or severe and is restricted primarily
to skeletal muscle. The majority of patients are unable to sit or
stand without support, and some affected children may never learn to
walk.
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss primarily
affects boys. The disorder has two forms: one is x-linked recessive
and the other is autosomal dominant.
Onset of Emery-Dreifuss MD is usually
apparent by age 10, but symptoms may not appear until as late as the
mid-twenties. The disease causes slow but progressive wasting of the
upper arm and lower leg muscles and symmetric weakness. Contractures
in the spine, ankles, knees, elbows, and back of the neck usually
precede significant muscle weakness, which is less severe than in
Duchenne MD. Contractures may cause elbows to become locked in a
flexed position. Other symptoms include shoulder deterioration,
toe-walking, and mild facial weakness. Nearly all Emery-Dreifuss MD
patients have some form of heart problem by age 30.
Youth/Adolescent Types
Facioscapulohumeral Muscular
Dystrophy (FSHD)
FSHD initially affects muscles in the
face, shoulders, and upper arms with progressive weakness. Also know
as Landouzy-Dejerine disease, the third most common form of MD. Most
individuals have a normal life span, but some individuals become
severely disabled. Disease progression is typically very slow, with
intermittent spurts of rapid muscle deterioration. Onset is usually
in the teenage years but may occur as late as 40. Muscles around the
eyes and mouth are often affected first, followed by weakness around
the lower shoulders and chest. A particular pattern of muscles
wasting causes the shoulders to appear to be slanted and the shoulder
blades winged. Muscles in lower extremities may also become weakened.
Changed in facial appearance may include the development of a crooked
smile, a pouting look, flattened facial features, or a mask-like
appearance. Some individuals cannot pucker their lips or whistle and
may have difficulty swallowing, chewing, or speaking.
Limb-Girdle Muscular Dystrophy
Limb-Girdle MD refers to more than a
dozen inherited conditions marked by progressive loss of muscle bulk
and symmetrical weakening of voluntary muscles, primarily those is
the shoulders and the hips. Weakness is typically noticed first
around the hips before spreading to the shoulders, legs, and neck.
Patients develop a waddling gait and have difficulty when rising from
chairs, climbing stairs, or carrying heavy objects. Patients fall
frequently and are unable to run. Contractures at the elbows and
knees are rare but patients may develop contractures in the back
muscles, which gives them the appearance of a rigid spine. Some
patients also experience cardiomyopathy and respiratory
complications. Most persons with Limb-Girdle MD become severely
disabled within 20 years of disease onset.
Adult Types
Distal Muscular Dystrophy
Distal MD describes a group of at
least six specific muscle diseases that primarily affect distal
muscles (those farthest away from the shoulders and hips) in the
forearms, hands, lower legs, and feet. Distal dystrophies are
typically less severe, progress more slowly, and involve fewer
muscles than other forms of MD, although they can spread to other
muscles. Distal MD can affect the heart and respiratory muscles, and
patients may eventually require the use of a ventilator. Patients may
not be able to perform fine hand movement and have difficulty
extending the fingers. As leg muscles become affected, walking and
climbing stairs become difficult and some patients may be unable to
hope or stand on their heels.
Myotonic Muscular Dystrophy
Myotonic MD may be the most common
adult form of MD. Myotonia, or an inability to relax muscles
following a sudden contraction, is found only in this form of MD.
People with myotonic MD can live a long life, with variable but
slowly progressive disability. Typical disease onset is between ages
20 and 30. Myotonic MD affects the central nervous system and other
body systems., including the heart, adrenal glands and thyroid, eyes,
and gastrointestinal tract. Muscles in the face and the front of the
neck are usually first to show weakness and may produce a haggard,
“hatchet” face and a thin, swan-like neck. Other symptoms include
cardiac complications, difficulty swallowing, droopy eyelids,
cataracts, poor vision, early frontal baldness, weight loss,
impotence, testicular atrophy, mild mental impairment, and increased
sweating. The disease occurs earlier and is more severe in successive
generations.
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal MD generally
begins in a person's forties or fifties and affects both men and
women. In the United States, the disease is most common in families
of French-Canadian descent and among Hispanic residents of northern
New Mexico. Patients first report drooping eyelids, followed by
weakness in the facial muscles and pharyngeal muscles in the throat.
The tongue may atrophy and changes to the voice may occur. Patients
may have double vision and problems with upper gaze, and others may
have retinitis pigmentosa and cardiac irregularities. Those persons
most severely affected will eventually lost the ability to walk.
Causes of Muscular Dystrophy
All muscular dystrophies are inherited
and involve a mutation in one of the thousands of genes that program
proteins critical to muscle integrity. Many cases of MD occur from
spontaneous mutations that are not fond in the genes of either
parent, and this defect can be passed to the next generation.
Muscular dystrophies can be inherited in three different ways:
autosomal dominant inheritance, autosomal recessive inheritance, or
x-linked recessive inheritance.
Symptoms of Muscular Dystrophy
The symptoms of different
classifications of MD vary. Some types, such as Duchenne MD, are
ultimately fatal, while other types are associated with normal life
expectancy. All of the muscles may be affected or only specific
groups of muscles may be affected. Muscular dystrophy can affect
males and females as well as children and adults, but the more sever
forms tend to occur early in childhood.
Symptoms Include:
- Mental Retardation
- Muscles Weakness that slowly gets worse
- Drooling
- Eyelid drooping
- Delayed development of muscle motor skills
- Frequent falls
- Loss of strength in a muscle or group of muscles as an adult
- Loss in muscle size
- Problems walking (delayed walking)
Diagnosis
Patient's medical history and a
complete family history should be thoroughly reviewed to determine in
the muscle disease is secondary to a disease affecting other tissues
or organs or is an inherited conditions. It is also important to rule
out any muscle weakness resulting from prior surgery, exposure to
toxins, current medications that may affect the patient's functional
status, and any acquired muscle diseases. Thorough clinical and
neurological exams can rule out disorders of the muscle weakness and
atrophy, test reflex responses and coordination, and look for
contractions. Various laboratory tests may be used to confirm the
diagnosis of MD.
Blood and Urine Tests can detect
defective genes and help identify specific neuromuscular disorders.
- The level of serum aldolase, an enzyme involved in the breakdown of glucose, is measured to confirm a diagnosis of skeletal muscle disease. High levels of the enzyme, which is present in most body tissues, are noted in patients with MD and some forms of myopathy.
- Creatine kinase is an enzyme that leaks out of damaged muscle. Elevated levels of this enzyme may indicate muscle damage, including some forms of MD.
- Myoglobin is measures when injury or disease in skeletal muscle is suspected. Myoglobin is an oxygen-binding protein found in cardiac and skeletal muscle cells. High blood levels of myoglobin are found in patients with MD.
- Polymerase chain reaction (PCR) can detect mutations in the dystrophin gene. Also, known as molecular diagnosis or genetic testing, PCD is a method for generating and analyzing multiple copies of a fragment of DNA.
Exercise Tests can detect
elevated rates of certain chemicals following exercise and are used
to determine the nature of the MD or other muscle disorder. Some
exercise tests can be performed at the patient's bedside while others
are done at clinics or other sites using sophisticated equipment.
These tests also assess muscle strength.
Genetic Testing looks for genes
known to either cause or be associated with inherited muscle disease.
DNA analysis and enzyme assays can confirm the diagnosis of certain
neuromuscular disease, including MD. Genetic linkage studies can
identify whether a specific genetic marker on a chromosome and a
disease are inherited together. They are particularly useful in
studying families with members in different generations who are
affected. An exact molecular diagnosis is necessary for some of the
treatment strategies that are currently being developed.
Genetic Counseling can help
parents who have a family history of MD determine if they are
carrying one of the mutated genes that cause the disorder. Two tests
can be used to help expectant parents found out if their child is
affected such as the amniocentesis and the Chorionic Villus Sampling.
Magnetic Resonance Imaging (MRI)
is used to examine muscle quality, any atrophy or abnormalities in
size, and fatty replacement of muscle tissues, as well as to monitor
disease progression. MRI scanning equipment creates a strong magnetic
field around the body. Radio waves are then passed through the body
and then analyzed in either a two or three dimensional picture.
Ultrasound may also be used to measure muscle bulk.
Muscle Biopsies are used to
monitor the course of disease and treatment effectiveness. A small
sample of muscle is removed and studied under a microscope. Muscle
biopsy is necessary to make the diagnosis in most of the acquired
muscle diseases.
Specific Needs for Muscular
Dystrophy
Equipment needed
for someone with MD varies depending on the type and severity of the
disease. Some of the more common types of equipment include:
- Wheelchair
- Van lifts
- Shower chairs
- Specialized driving equipment
- Ramps for home
- Specialized clothing
Insurance
companies aren't very helpful in covered the costs of equipment so it
is hard for families. Due to this burden, many organizations exist to
aid families in obtaining equipment, as well as a support system for
a family with a member who has MD.
Treatments
of Muscular Dystrophy
There is currently no cure for any
form of MD. Research into gene therapy may eventually provide
treatment to stop the progression of some types of MD. Current
treatment is designed to help prevent or reduce deformities in the
joints and spine to allow people with MD to remain as mobile as
possible.
Assisted ventilation is often needed
to treat respiratory muscle weakness that accompanies many forms of
MD, especially in the later stages. Oxygen is fed through a flexible
mask to help the lungs inflate fully. Since respiratory difficulty
may be most extreme at night, some patients need overnight
ventilation. This may also be the reason a patient may need a gastric
feeding tube.
Drug therapy would be prescribed to
delay muscle degeneration. Corticosteroids can slow the rate of
muscle deterioration in Duchenne MD and can keep children walking for
several years. The down side to this is that the side effects include
weight gain and bone fragility if taken too long. Immunosuppressive
drugs can delay damage to dying muscle cells. There are also drugs
that may provide relief to muscle spasms and weakness.
Physical therapy can help prevent
deformities, improve movement, and keep muscles as flexible and
strong as possible. This mainly consists of stretching, postural
correction, walking therapy, and general exercise. Physical therapy
is the first form of therapy given after diagnosis, before the
muscles and joints tighten up.
Dietary changes have not been shown to
slow the progression of MD. Limited mobility can contribute to
obesity and so a healthy diet is key to keeping their general health
in line.
Occupational therapy is important
because many patients need to relearn skills in order to work and
survive. They are unable to do certain things the same way and an
occupational therapist can help them learn new ways as well as how to
cope with the change.
Corrective surgery is often performed
to ease complications of MD such as scoliosis, muscle-release
surgery, eye-surgery to correct cataracts, and heart surgery.
ROLE OF
THERAPEUTIC RECREATION
Because muscular
dystrophy is a degenerative disorder, it is important for the CTRS to
remember that their patient will lost most of their muscle strength.
Before this happens, it is key to keep the person moving and as
actively involved as possible. Inactivity progresses the inevitable
disability much quicker.
Different types
of TR activities will help such as encouraging individuals to do as
much as they can on their own, deep breathing exercises to maintain
lung function, writing or arts and crafts to retain fine motor
skills, wheelchair sports, aquatics to help in range of muscle and
relaxation, as well as many different MD riding lessons.
Muscular
Dystrophy Resources
- Parent Project MD
- This is a specific resource for parents of children who have been diagnosed with Duchenne MD. They have information regarding the diagnosis, care, and research that is being done to help in the fight against Duchenne MD. They also have information of advocation and donation to the cause. You can find them at www.EndDuchenne.org
- New Horizons Un-Limited Inc.
- This organization is a general resource for those whose children have MD and given information on national, community, and internet levels. You can find them at www.new-horizons.org
- Muscular Dystrophy Family Fund
- This organization came about to help families gain access to special equipment for their family member with MD as well as advocacy and support groups. They are sponsored by many different companies and have helped many families across the nation. You can find them at www.mdff.org
- Muscular Dystrophy Canada
- This is a Canadian organization to help families living with MD. This is an informational resource about the diagnosis, how to live with it, as well as information on conferences and workshops in Canada. You can find them at www.muscle.ca
- Band Back Together
- This is an important organization that helps those living with MD know that they are not alone. They specialize in helping fight against abuse to those with MD as well as depression of those who have MD. They offer information about the diagnosis and other resources in the area. You can find them at www.bandbacktogether.com
- Muscular Dystrophy Association
- The MDA is a national resource that gives information you can find in each and every state in the United States. You can find resources near you by going to www.mdausa.org
Sources
What is Cerebral Palsy?
Cerebral palsy (CP) is a broad term
used to describe a group of chronic "palsies" -- disorders
that impair control of movement -- due to damage to the developing
brain. CP usually develops by age 2 or 3 and is a non-progressive
brain disorder, meaning the brain damage does not continue to worsen
throughout life. However, the symptoms due to the brain damage often
do change over time; sometimes getting better and sometimes getting
worse. CP is one of the most common causes of chronic childhood
disability.
About 10,000 infants are diagnosed with
CP and up to 1,500 preschoolers are recognized as having it each
year. The United Cerebral Palsy Association estimates that more than
764,000 Americans have CP.
What Cerebral Palsy is and is not,
according to the Cerebral Palsy Organization:
Cerebral palsy is
non-life-threatening – With the exception of children born
with a severe case, cerebral palsy is considered to be a
non-life-threatening condition. Most children with cerebral palsy are
expected to live well into adulthood.
Cerebral palsy is incurable –
Cerebral palsy is damage to the brain that cannot currently be fixed.
Treatment and therapy help manage effects on the body.
Cerebral palsy is non-progressive –
The brain lesion is the result of a one-time brain injury and will
not produce further degeneration of the brain.
Cerebral palsy is permanent –
The injury and damage to the brain is permanent. The brain does not
“heal” as other parts of the body might. Because of this, the
cerebral palsy itself will not change for better or worse during a
person’s lifetime. On the other hand, associative conditions may
improve or worsen over time.
Cerebral palsy is not contagious; it
is not communicable – In the majority of cases, cerebral
palsy is caused by damage to the developing brain. Brain damage is
not spread through human contact. However, a person can intentionally
or unintentionally increase the likelihood a child will develop
cerebral palsy through abuse, accidents, medical malpractice,
negligence, or the spread of a bacterial or viral infection.
Cerebral palsy is manageable –
The impairment caused by cerebral palsy is manageable. In other
words, treatment, therapy, surgery, medications and assistive
technology can help maximize independence, reduce barriers, increase
inclusion and thus lead to an enhanced quality-of-life.
Cerebral palsy is chronic –
The effects of cerebral palsy are long-term, not temporary. An
individual diagnosed with cerebral palsy will have the condition for
their entire life.
Types, Forms, and Classifications
of Cerebral Palsy
Many cerebral palsy classification
systems are used today. Over the last 150 years, the definition of
cerebral palsy has evolved and changed as new medical discoveries
contributed to growing knowledge of the condition. Although a myriad
of classifications – used differently and for many purposes –
exists today, those involved in cerebral palsy research are working
toward a universally accepted classification system.
Because of the diversity of
classification systems, parents may want to document different terms
doctors use in cerebral palsy diagnosis. In addition, parents should
also maintain home health records documenting associated impairments,
anatomic and radiation findings, as well as causation and timing.
CLASSIFICATION OF CEREBRAL PALSY BASED
ON:
Severity Level
Cerebral palsy is often classified by
severity level as mild, moderate, severe, or no CP. These are broad
generalizations that lack a specific set of criteria. Even when
doctors agree on the level of severity, the classification provides
little specific information, especially when compared to the GMFCS.
Still, this method is common and offers a simple method of
communicating the scope of impairment, which can be useful when
accuracy is not necessary.
- Mild - Mild cerebral palsy means a child can move without assistance; his or her daily activities are not limited.
- Moderate - Moderate cerebral palsy means a child will need braces, medications, and adaptive technology to accomplish daily activities.
- Severe - Severe cerebral palsy means a child will require a wheelchair and will have significant challenges in accomplishing daily activities.
- No CP - No CP means the child has cerebral palsy signs, but the impairment was acquired after completion of brain development and is therefore classified under the incident that caused the cerebral palsy, such as traumatic brain injury or encephalopathy.
CLASSIFICATION OF CEREBRAL PALSY BASED
ON:
Topographical Distribution
Topographical classification describes
body parts affected. The words are a combination of phrases combined
for one single meaning. When used with Motor Function classification,
it provides a description of how and where a child is affected by
cerebral palsy. This is useful in ascertaining treatment protocol.
Two terms are at the heart of this
classification method.
- Paresis means weakened
- Plegia/Plegic means paralyzed
The prefixes and root words are
combined to yield the topographical classifications commonly used in
practice today.
- Monoplegia/monoparesis means only one limb is affected. It is believed this may be a form of hemiplegia/hemiparesis where one limb is significantly impaired.
- Diplegia/diparesis usually indicates the legs are affected more than the arms; primarily affects the lower body.
- Hemiplegia/hemiparesis indicates the arm and leg on one side of the body is affected.
- Paraplegia/paraparesis means the lower half of the body, including both legs, are affected.
- Triplegia/triparesis indicates three limbs are affected. This could be both arms and a leg, or both legs and an arm. Or, it could refer to one upper and one lower extremity and the face.
- Double hemiplegia/double hemiparesis indicates all four limbs are involved, but one side of the body is more affected than the other.
- Tetraplegia/tetraparesis indicates that all four limbs are involved, but three limbs are more affected than the fourth.
- Quadriplegia/quadriparesis means that all four limbs are involved.
- Pentaplegia/pentaparesis means all four limbs are involved, with neck and head paralysis often accompanied by eating and breathing complications.
CLASSIFICATION OF CEREBRAL PALSY BASED
ON:
Motor Function
The brain injury that causes cerebral
palsy affects motor function, the ability to control the body in a
desired matter. Two main groupings include spastic and non-spastic.
Each has multiple variations and it is possible to have a mixture of
both types.
- Spastic cerebral palsy is characterized by increased muscle tone.
- Non-spastic cerebral palsy will exhibit decreased or fluctuating muscle tone.
Motor function classification provides
both a description of how a child’s body is affected and the area
of the brain injury. Using motor function gives parents, doctors, and
therapists a very specific, yet broad, description of a child’s
symptoms, which helps doctors choose treatments with the best chance
for success.
Muscle Tone
Many motor function terms describe
cerebral palsy’s effect on muscle tone and how muscles work
together. Proper muscle tone when bending an arm requires the bicep
to contract and the triceps to relax. When muscle tone is impaired,
muscles do not work together and can even work in opposition to one
another.
Two terms used to describe muscle tone
are:
- Hypertonia/Hypertonic — increased muscle tone, often resulting in very stiff limbs. Hypertonia is associated with spastic cerebral palsy
- Hypotonia/Hypotonic — decreased muscle tone, often resulting in loose, floppy limbs. Hypotonia is associated with non-spastic cerebral palsy
Two Classifications by Motor
Function:
Pyramidal and Extrapyramidal
When referring to location of the brain
injury, spastic and non-spastic cerebral palsy is referred to in the
medical community as pyramidal (spastic) and extrapyramidal
(non-spastic) cerebral palsy.
The pyramidal tract consists of two
groups of nerve fibers responsible for voluntary movements. They
descend from the cortex into the brain stem. In essence, they are
responsible for communicating the brain’s movement intent to the
nerves in the spinal cord that will stimulate the event. Pyramidal
cerebral palsy would indicate that the pyramidal tract is damaged or
not functioning properly.
Extrapyramidal cerebral palsy indicates
the injury is outside the tract in areas such as the basal ganglia,
thalamus, and cerebellum. Pyramidal and extrapyramidal are key
components to movement impairments.
Spastic
(Pyramidal) –
Spasticity implies increased muscle
tone. Muscles continually contract, making limbs stiff, rigid, and
resistant to flexing or relaxing. Reflexes can be exaggerated, while
movements tend to be jerky and awkward. Often, the arms and legs are
affected. The tongue, mouth, and pharynx can be affected, as well,
impairing speech, eating, breathing, and swallowing.
Spastic cerebral palsy is hypertonic
and accounts for 70% to 80% of cerebral palsy cases. The injury to
the brain occurs in the pyramidal tract and is referred to as upper
motor neuron damage.
The stress on the body created by
spasticity can result in associated conditions such as hip
dislocation, scoliosis, and limb deformities. One particular concern
is contracture, the constant contracting of muscles that results in
painful joint deformities.
Spastic cerebral palsy is often named
in combination with a topographical method that describes which limbs
are affected, such as spastic diplegia, spastic hemiparesis, and
spastic quadriplegia.
Non-Spastic
(Extrapyramidal) –
Non-spastic cerebral palsy is decreased
and/or fluctuating muscle tone. Multiple forms of non-spastic
cerebral palsy are each characterized by particular impairments; one
of the main characteristics of non-spastic cerebral palsy is
involuntary movement. Movement can be slow or fast, often repetitive,
and sometimes rhythmic. Planned movements can exaggerate the effect –
a condition known as intention tremors. Stress can also worsen the
involuntary movements, whereas sleeping often eliminates them.
An injury in the brain outside the
pyramidal tract causes non-spastic cerebral palsy. Due to the
location of the injury, mental impairment and seizures are less
likely. Non-spastic cerebral palsy lowers the likelihood of joint and
limb deformities. The ability to speak may be impaired as a result of
physical, not intellectual, impairment.
Non-spastic cerebral palsy is divided
into two groups, ataxic and dyskinetic. Together they make up 20% of
cerebral palsy cases. Broken down, dyskinetic makes up 15% of all
cerebral palsy cases, and ataxic comprises 5%.
Ataxic/Ataxia
-
Ataxic cerebral palsy affects
coordinated movements. Balance and posture are involved. Walking gait
is often very wide and sometimes irregular. Control of eye movements
and depth perception can be impaired. Often, fine motor skills
requiring coordination of the eyes and hands, such as writing, are
difficult.
Dyskinetic -
Dyskinetic cerebral palsy is separated
further into two different groups; athetoid and dystonic.
- Athetoid cerebral palsy includes cases with involuntary movement, especially in the arms, legs, and hands.
- Dystonia/Dystonic cerebral palsy encompasses cases that affect the trunk muscles more than the limbs and results in fixed, twisted posture.
Because non-spastic cerebral palsy is
predominantly associated with involuntary movements, some may
classify cerebral palsy by the specific movement dysfunction, such
as:
- Athetosis — slow, writhing movements that are often repetitive, sinuous, and rhythmic
- Chorea — irregular movements that are not repetitive or rhythmic, and tend to be more jerky and shaky
- Choreoathetoid — a combination of chorea and athetosis; movements are irregular, but twisting and curving
- Dystonia — involuntary movements accompanied by an abnormal, sustained posture
- Ataxia/Ataxic — does not produce involuntary movements, but instead indicates impaired balance and coordination
Mixed
-
A child’s impairments can fall into
both categories, spastic and non-spastic, referred to as mixed
cerebral palsy. The most common form of mixed cerebral palsy involves
some limbs affected by spasticity and others by athetosis.
CLASSIFICATION OF CEREBRAL PALSY BASED
ON:
Gross Motor Function Classification
System
Gross Motor Function Classification
System (GMFCS) uses a five-level system that corresponds to the
extent of ability and impairment limitation. A higher number
indicates a higher degree of severity. Each level is determined by an
age range and a set of activities the child can achieve on his or her
own.
The GMFCS is a universal classification
system applicable to all forms of cerebral palsy. Using GMFCS helps
determine the surgeries, treatments, therapies, and assistive
technology likely to result in the best outcome for a child.
Additionally, the GMFCS is a powerful system for researchers; it
improves data collection and analysis and hence result in better
understanding and treatment of cerebral palsy.
The GMFCS addresses the goal set by
organizations such as the World Health Organization (WHO) and the
Surveillance of Cerebral Palsy in Europe (SCPE) which advocate for a
universal classification system that focuses on what a child can
accomplish, as opposed to the limitations imposed by his or her
impairments.
This system is useful to parents and
caretakers as a developmental guideline which takes into
consideration the child’s motor impairment. It assigns a
classification level (GMFCS Level 1 – 5). The parent is then able
to understand motor impairment abilities over time, as the child
progresses in age.
To best utilize the GMFCS, it is often
combined with other classification systems that define the extent,
location, and severity of impairment. It is also recommended to
document upper extremity function and speech impairments.
How is GMFCS Used?
The GMFCS uses head control, movement
transition, walking, and gross motor skills such as running, jumping,
and navigating inclined or uneven surfaces to define a child’s
accomplishment level. The goal is to present an idea of how
self-sufficient a child can be at home, at school, and at outdoor and
indoor venues.
When the child fits in multiple levels,
the lower of the two classification levels is chosen. The GMFCS
classification system recognizes that children with impairments have
age-appropriate developmental factors. GMFCS is able to chart by age
group (0-2; 2-4; 4-6; 6-12; and 12-18) a developmental guideline
appropriate for the assigned GMFCS level. It emphasizes sitting,
movement transfers and mobility, charting independence and reliance
on adaptive technology.
GMFCS Classification Levels
- GMFCS Level I- walks without limitations.
- GMFCS Level II- walks with limitations. Limitations include walking long distances and balancing, but not as able as Level I to run or jump; may require use of mobility devices when first learning to walk, usually prior to age 4; and may rely on wheeled mobility equipment when outside of home for traveling long distances.
- GMFCS Level III- walks with adaptive equipment assistance. Requires hand-held mobility assistance to walk indoors, while utilizing wheeled mobility outdoors, in the community and at school; can sit on own or with limited external support; and has some independence in standing transfers.
- GMFCS Level IV- self-mobility with use of powered mobility assistance. Usually supported when sitting; self-mobility is limited; and likely to be transported in manual wheelchair or powered mobility.
- GMFCS Level V- severe head and trunk control limitations. Requires extensive use of assisted technology and physical assistance; and transported in a manual wheelchair, unless self-mobility can be achieved by learning to operate a powered wheelchair.
What Causes Cerebral Palsy?
Congenital cerebral palsy results from
brain injury during a baby's development in the womb. It is present
at birth, although it may not be detected for months. It is
responsible for about 70% of children who have cerebral palsy. An
additional 20% are diagnosed with congenital cerebral palsy due to a
brain injury during the birthing process. In most cases, the cause of
congenital cerebral palsy is unknown. Some other causes are:
- Infections during pregnancy that may damage a fetus' developing nervous system. These include rubella (German measles), cytomegalovirus (a herpes-type virus), and toxoplasmosis (an infection caused by a parasite that can be carried in cat feces or inadequately cooked meat). Other infections in pregnant women that may go undetected are being recognized now as an important cause of developmental brain damage of the fetus.
- Severe jaundice in the infant. Jaundice is caused by excessive bilirubin in the blood. Normally, bilirubin is filtered out by the liver. But often, newborns' livers need a few days to start doing this effectively, so it's not uncommon for infants to have jaundice for a few days after birth. In most cases, phototherapy (light therapy) clears up jaundice, and there are no lasting health effects. However, in rare cases, severe, untreated jaundice can damage brain cells.
- Rh incompatibility between mother and infant. In this blood condition, the mother's body produces antibodies that destroy the fetus's blood cells. This, in turn, leads to a form of jaundice in the newborn and may cause brain damage.
- The physical and metabolic trauma of being born. This can precipitate brain damage in a fetus whose health has been threatened during development.
- Severe oxygen deprivation to the brain or significant trauma to the head during labor and delivery.
According to the United Cerebral Palsy, about
10% of children with CP acquire the disorder after birth in the U.S.
It results from brain damage in the first few months or years of
life. CP often follows infections of the brain, such as bacterial
meningitis or viral encephalitis, or it may be the result of a head
injury.
Some risk factors that increase the possibility
that a child will later be diagnosed with CP include:
- Breech births (with the feet, knees, or buttocks coming out first).
- Vascular or respiratory problems in the infant during birth.
- Physical birth defects such as faulty spinal bone formation, groin hernias, or an abnormally small jaw bone.
- Receiving a low Apgar score 10 to 20 minutes after delivery. An Apgar test is used to make a basic, immediate determination of a newborn's physical health. For the test, the infant's heart rate, breathing, muscle tone, reflexes, and color are evaluated and given a score from 0 (low) to 2 (normal).
- A low birth weight (less than 2,500 grams, or 5 lbs. 7.5 oz.) and premature birth (born less than 37 weeks into pregnancy).
- Being a twin or part of a multiple birth.
- A congenital nervous system malformation, such as an abnormally small head (microcephaly).
- Seizures shortly after birth.
Mothers who had bleeding or severe proteinuria
(excess protein in the urine) late in their pregnancy have a higher
chance of having a baby with CP, as do mothers who have
hyperthyroidism or hypothyroidism, mental retardation, or seizures.
Not all children who are exposed to these risk
factors develop CP. However, parents and doctors should be aware of
these risks and watch an at-risk child's development carefully.
Premature babies — particularly those
who weigh less than 3.3 pounds (1,510 grams) — have a higher risk
of CP than babies that are carried full-term, as are other low birth
weight babies and multiple births, such as twins and triplets.
Brain damage in infancy or early
childhood can also lead to CP. A baby or toddler might suffer this
damage because of lead poisoning, bacterial meningitis, malnutrition,
being shaken as an infant (shaken baby syndrome), or being in a car
accident while not properly restrained.
Signs and Symptoms of Cerebral
Palsy
Signs of cerebral palsy are different
than symptoms of cerebral palsy.
Signs
are clinically identifiable effects of brain injury or malformation
that cause cerebral palsy. A doctor will discern signs of a health
concern during exam and testing.
Symptoms,
on the other hand, are effects the child feels or expresses; symptoms
are not necessarily visible.
Impairments resulting from cerebral
palsy range in severity, usually in correlation with the degree of
injury to the brain. Because cerebral palsy is a group of conditions,
signs and symptoms vary from one individual to the next.
The primary effect of cerebral palsy is
impairment of muscle tone, gross and fine motor functions, balance,
control, reflexes, and posture. Oral motor dysfunction, such as
swallowing and feeding difficulties, speech impairment, and poor
muscle tone in the face, can also indicate cerebral palsy.
Associative conditions, such as sensory impairment, seizures, and
learning disabilities that are not a result of the same brain injury,
occur frequently with cerebral palsy. When present, these associative
conditions may contribute to a clinical diagnosis of cerebral palsy.
The most common early sign of cerebral
palsy is developmental delay. Delay in reaching key growth
milestones, such as rolling over, sitting, crawling and walking are
cause for concern. Practitioners will also look for signs such as
abnormal muscle tone, unusual posture, persistent infant reflexes,
and early development of hand preference.
Many signs and symptoms are not readily
visible at birth, except in some severe cases, and may appear within
the first three to five years of life as the brain and child develop.
If the delivery was traumatic, or if
significant risk factors were encountered during pregnancy or birth,
doctors may suspect cerebral palsy immediately and observe the child
carefully. In moderate to mild cases of cerebral palsy, parents are
often first to notice if the child doesn’t appear to be developing
on schedule. If parents do begin to suspect cerebral palsy, they will
likely want to consult their physician and ask about testing to begin
ruling out or confirming cerebral palsy or other conditions.
Most experts agree; the earlier a
cerebral palsy diagnosis can be made, the better. However, some
caution against making a diagnosis too early, and warn that other
conditions need to be ruled out first. Because cerebral palsy is the
result of brain injury, and because the brain continues to develop
during the first years of life, early tests may not detect the
condition. Later, however, the same test may, in fact, reveal the
issue.
If a diagnosis can be made early on,
early intervention programs and treatment protocols have shown
benefit in management of cerebral palsy. Early diagnosis also helps
families qualify for government benefit programs and early
intervention.
Eight Clinical Signs of Cerebral
Palsy
Since cerebral palsy is most often
diagnosed in the first several years of life, when a child is too
young to effectively communicate his or her symptoms, signs are the
primary method of recognizing the likelihood of cerebral palsy.
Cerebral palsy is a neurological
condition which primarily causes orthopedic impairment. Cerebral
palsy is caused by a brain injury or brain abnormality that
interferes with the brain cells responsible for controlling muscle
tone, strength, and coordination. As a child grows, these changes
affect skeletal and joint development, which may lead to impairment
and possibly deformities. The eight
clinical signs of cerebral palsy involve:
In some instances, signs become more
apparent when the child experiences developmental delay or fails to
meet established developmental milestones.
Diagnosis of Cerebral Palsy
Diagnosing cerebral palsy takes time.
There is no test that confirms or rules out cerebral palsy.
In severe cases, the child may be
diagnosed soon after birth, but for the majority, diagnosis can be
made in the first two years.
For those with milder symptoms, a
diagnosis may not be rendered until the brain is fully developed at
three to five years of age. For example, the average age of diagnosis
for a child with spastic diplegia, a very common form of cerebral
palsy, is 18 months.
This can be a difficult time for
parents who suspect something might be different about their child.
Often, parents are first to notice their child has missed one of the
age-appropriate developmental milestones.
If a growth factor is delayed, parents
may hope their child is just a slow starter who will “catch up.”
While this may be the case, parents should inform the child’s
doctor of concerns, nonetheless.
Confirming cerebral palsy can involve
many steps. The first is monitoring for key indicators such as:
- When does the child reach development milestones and growth chart standards for height and weight?
- How do the child’s reflexes react?
- Does it seem as if the child is able to focus on and hear his or her caregivers?
- Does posture and movement seem abnormal?
Doctors will test reflexes, muscle
tone, posture, coordination and other factors, all of which can
develop over months or even years. Primary care physicians may want
to consult medical specialists, or order tests such as MRIs, cranial
ultrasounds, or CT scans to obtain an image of the brain. Even once a
diagnosis of cerebral palsy is made, parents may wish to seek a
second opinion to rule out misdiagnosis.
Why Diagnosis is Important?
A diagnosis is important for many
reasons:
- To understand the child’s health status
- To begin early intervention and treatment
- To remove doubt and fear of not knowing
- To find and secure benefits to offset the cost of raising a child with cerebral palsy
The process for diagnosing cerebral
palsy usually begins with observations made by the child’s primary
care physician, usually a pediatrician, and the child’s parents.
There are some exceptions.
If a baby is born prematurely, or at a
low birth weight, he or she is monitored closely in the neonatal
intensive care unit of the hospital from time of birth. In extreme
cases of child abuse, or shaken baby syndrome a pediatric neurologist
called to the hospital’s emergency or NICU unit will diagnosis the
child’s condition. In the majority of cases the child will attend
regular well-baby visits where the pediatrician first uncovers signs
of cerebral palsy during examination. In some cases, it is the
parents who notice symptoms they relay to the child’s doctor during
these visits.
Developmental delay, abnormal growth
charts, impaired muscle tone, and abnormal reflexes are early
indications of cerebral palsy. Because there is no test that
definitely confirms or rules out cerebral palsy, other conditions
must be excluded from the list of possible causes, and cerebral palsy
must be fully considered. Other disorders and conditions can appear
as cerebral palsy, and cerebral palsy is often accompanied by
associated conditions that complicate the process of diagnosis.
The medical examination process can
involve multiple doctors, tests, and appointments. During this time
doctors will rule out other similar conditions such as:
- Degenerative nervous disorders
- Genetic diseases
- Muscle diseases
- Metabolism disorders
- Nervous system tumors
- Coagulation disorders
- Other injuries or disorders which delay early development, some of which can be “outgrown”
Common tests that involve neurologists
or neuroradiologists, include neuroimaging, such as cranial
ultrasound, computed tomography scan (CT Scan), and magnetic
resonance imaging scans (MRIs). These tests allow neurologists to
actually “see” the brain. Various disorders, injuries, and
conditions yield different results. These can be used to rule out
cerebral palsy.
Infants who test positive for a
developmental disorder may be referred to medical specialists for
further evaluations.
A child may be sent to an orthopedic
surgeon to ascertain delay in motor development, record persistence
of primitive reflexes, examined for dislocated hips, and assessed for
abnormal posture.
Medical specialists are brought in to
test hearing, vision, and perception, as well as cognitive,
behavioral, and physical development.
A genetic specialist may be consulted
for hereditary components.
The pediatrician will document all
surveillance, screening, evaluation, and referral activities in the
child’s health record.
The lengthy and detailed process can
help rule out or confirm cerebral palsy. A formal diagnosis is
usually made once the brain is fully developed between 2 to 5 years
of age.
After the child has been diagnosed with
cerebral palsy, the doctors will ascertain the extent, location and
severity of the condition as well as any associative conditions or
co-mitigating factors. Cerebral palsy cannot be cured, however it can
be managed.
12-Step Diagnostic Process
The diagnosis process begins by
monitoring the child’s development and watching for possible signs
of impairment. If a baby is born prematurely, or at a low birth
weight, he or she is monitored closely at time of birth in the
hospital’s neonatal intensive care unit. If the infant attends
regularly scheduled well-baby visits, the pediatritian may be first
to notice signs of cerebral palsy. In some cases, it is parents who
notice symptoms they relay to the child’s doctor.
The steps include:
Risk Factors for Cerebral Palsy
Cerebral palsy risk factors are events,
substances or circumstances that increase the chances of a child
developing cerebral palsy. Events that create a greater risk for a
child to develop cerebral palsy include accidents, traumatic brain
injury, medical malpractice, and shaken-baby syndrome.
Events could also include infections,
complicated birth, maternal seizures, inflammation and improperly
managed chronic health conditions. Risks can be avoidable, or
unavoidable.
A mother’s intake of or exposure to
toxins from cigarette smoke, illegal drugs, pesticides, hair dye, and
even the use of some prescription medications during pregnancy can
increase the likelihood that a child conceived later will develop
cerebral palsy. An expectant mother’s exposure to illnesses such as
Rubella or the chicken pox virus also place the fetus at risk for
developing cerebral palsy.
Parental health and habits are known
contributing risk factors. For example, parents younger than 18 or
older than 34 are more likely to have a child with cerebral palsy.
Mothers with eating disorders that aren’t managed properly during
pregnancy can contribute risk.
A risk factor does not ensure a
child will develop cerebral palsy; it means chances are higher than
if that risk factor was not present. Likewise, the absence of
risk factors does not ensure that a child will not develop cerebral
palsy.
Cerebral palsy risk factors are often
confused with signs, symptoms or causes of cerebral palsy; they are
different. To clarify, risk factors increase the odds of cerebral
palsy occurring. They effect the causal pathway that leads to brain
injury or brain malformation. Symptoms, on the other hand, are the
experiences of the individual, which may indicate a condition exists,
and signs are clinical proof of the condition. The cause of cerebral
palsy is one of four types of brain damage:
- Periventricular Leukomalacia (PVL) – damage to white matter tissue in the brain
- Cerebral Dysgenesis - brain malformation or abnormal brain development
- Intracranial Hemorrhage (IVH) – brain hemorrhage
- Hypoxic-Ischemic Encephalopathy (HIE) or Intrapartum Asphyxia – lack of oxygen to the brain or asphyxia
Although risk factors increase chances
of a child developing cerebral palsy, the likelihood is still low.
Approximately two to four in every 1,000 infants develop cerebral
palsy in the United States. Even when risk factors are present, the
probability of a child developing cerebral palsy is low.
Treatments for Cerebral Palsy
Although the brain injury that causes
cerebral palsy cannot be healed, the resulting physical impairment
can be managed with a wide range of treatments and therapies. Each
child’s impairment is unique and therefore no universal treatment
for cerebral palsy exists. Instead, individuals with cerebral palsy
are independently assessed and treated for their unique needs.
While therapy and adaptive equipment
are the primary treatment for cerebral palsy, a child may also
require drug therapy and surgical interventions. Some families, with
caution and physician guidance, turn to complementary and alternative
medicine for additional assistance.
Although each medical specialist may
have specific care goals related to their specialty, the overriding
treatment goal for those with cerebral palsy is to:
- Optimize mobility
- Manage primary conditions
- Control pain
- Prevent and manage complications, associative conditions and co-mitigating factors
- Maximize independence
- Enhance social and peer interactions
- Foster self-care
- Maximize ability to communicate
- Maximize learning potential
- Enhance quality-of-life
Common conventional methods of
treatment, complementary and alternative methods of treatment, and a
comprehensive treatment plan process are detailed below:
Therapeutic Recreation
Implications
Therapeutic recreation is an important
step in helping an individual with cerebral palsy become a
well-rounded individual afforded the benefits that physical, mental,
and social experiences provide. Recreation therapy focuses on
inclusion, not exclusion, by allowing the individual to participate
and be an integral part of activities they enjoy and learn from.
However, recreation therapy also has
another purpose – to enhance the ability of a child with cerebral
palsy to plan, strategize and perform tasks in an effort to achieve
improved physical functioning and encourage emotional well-being by
facilitating inclusion into activities they benefit by and enjoy.
This provides quality of life.
Recreation therapy is a treatment that
helps children with cerebral palsy develop and expand physical and
cognitive capabilities while participating in recreational
activities. Though a child may participate in other therapies that
specifically address physical function need, recreation therapy is
specifically designed to allow children to partake in leisure
pursuits by eliminating the roadblocks that impede the pursuit of
sports, arts, crafts, games and other life-enhancing activities.
‘Where there is a will, there is a
way’ montra applies to recreation therapy. When children with
impairment are presented with an obstacle to perform a life-enhancing
activity, recreation therapists work to identify the interest level,
capabilities, adaptive approaches, and in some cases modified
processes required to complete the activity successfully.
Recreation opportunities have advanced
through the years. Sports like rugby, soccer and tennis have been
modified for individuals in wheelchairs. Hockey can be played using
an innovative, custom-designed sled and extreme sports, such as
modified downhill bike racing, prove that those with impairment have
more sporting options – and fewer limits – than ever before.
Recreation therapy also addresses arts
and cultural pursuits. Children with compromised fine motor hand
strength can use softer than average clay to make ceramic pots.
Organized painting instruction using vibrant colors can help children
build crucial neurological connections. Artwork can be created by
using specialized applications and assistive equipment. Children are
participating in dance recitals using adaptive equipment, modified
movements and accepted grace.
The goals of
recreation therapy include:
- Determining a child’s capacity for recreational performance
- Minimizing a child’s disability by teaching him or her adaptive strategies
- Motivating a child to take part in activities with encouragement and support
- Modifying process and procedures to enhance inclusion
- Expanding a child’s ability to socialize and make friends
- Enhancing a child’s self-concept and self-confidence
- Helping a child develop interests
What are the Benefits of Recreation
Therapy?
Recreation therapy has numerous
benefits for children with cerebral palsy – it can improve physical
functionality, improve neurological connections associated with
processing activities, and provide opportunities for inclusion.
Children involved with recreation therapy benefit within both group
or solitary environments. The time spent within activities of
interest decreases opportunities for depression, loneliness and
frustration. In fact, recreation therapy provides a greater sense of
self-worth and accomplishment.
Another benefit that a child will enjoy
is the ability to take part in activities with his or her family,
neighborhood children, school mates and others with like interests.
When an individual is accepted into a group, other members of that
group are exposed to the ever-increasing capabilities of those with
impairment. Often siblings, friends, and co-workers would like to
interact with individuals with cerebral palsy, but are discouraged by
their ability to know how. Those trained in recreation that
participate in activities often become the examples of human
possibility, understanding and inspiration for those with and without
impairment.
Physical benefits
of recreation therapy include:
- Improved physical adeptness
- Increased strength and flexibility
- Improved physical fitness and health
- Improved athletic prowess
- Improved coordination
Psychological
benefits of recreation therapy include:
- Acceptance of disability
- Increased social skills
- Increased ability to manage stress and depression
- Decreased anger and anxiety
- Diminished social isolation
- Improved body image
- Improved well-being and relaxation
Cognitive
benefits of recreation therapy include:
- Improved behavior
- Increased analytical and decision-making skills
- Improved confidence
- Increased organization
- Increased perception
Sources
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