Muscular dystrophy

Dystrophy

A disorder in which an organ or tissue of the body wastes away

The muscular dystrophies (MD) are a group of inherited genetic conditions that
gradually cause the muscles to weaken, leading to an increasing level of disability.

MD is a progressive condition, which means it gets worse over time. It often

begins by affecting a particular group of muscles, before affecting the muscles
more widely.

Some types of MD eventually affect the heart or the muscles used for breathing, at
which point the condition becomes life-threatening.

There's no cure for MD, but treatment can help to manage many of the symptoms.

Overview

Since the prefix dys- means "bad" or "difficult", dystrophy is always a negative
term. Originally it meant "a condition caused by improper nutrition", but today the
term is instead used for a variety of other conditions, particularly conditions that
noticeably affect the muscles. Of the many types of muscular dystrophy, the best
known is Duchenne's, a terrible disease that strikes about one in 3,300 males and
produces severe wasting of the muscles. However, the muscular dystrophies
generally affect many other organs and systems as well. And the other dystrophies,
which tend to involve the eyes or hands, don't much resemble the muscular
dystrophies.
Who might get muscular dystrophy?

Muscular dystrophy often runs in families. A child who has a parent with muscular
dystrophy may inherit a mutated (changed) gene that causes muscular dystrophy.
Some people have the mutated gene but don’t have muscular dystrophy. These
healthy adults (carriers) can pass the mutated gene to their child, who may develop
the disease.

What are the types of muscular dystrophy?

There are more than 30 different types of muscular dystrophy. Some of the more
common forms include:

 Duchenne muscular dystrophy (DMD): This condition tends to affect

boys between the ages of 2 to 5, but girls can get it, too. You may notice that
your toddler has a hard time running, walking or jumping. As the disease
progresses, it can affect a child’s heart and lungs. DMD is the most common
form of muscular dystrophy. It affects approximately six out of 100,000
children in North America and Europe.
 Becker muscular dystrophy (BMD): BMD is the second most common
muscular dystrophy. Symptoms of BMD can appear anytime between age 5
and 60, but typically come on during the teen years. Males are more likely to
get BMD. The disease affects the hip, thigh and shoulder muscles, and
eventually the heart. Approximately one out of 18,000 to 30,000 U.S. boys
develop BMD.
 Facioscapulohumeral muscular dystrophy (FSHD): FSHD is the third
most common muscular dystrophy. The disease affects muscles in the face,
 shoulder blades and upper arms. Symptoms tend to appear before age 20.
About four out of 100,000 people in the U.S. have this form.
 Congenital muscular dystrophies (CMD): Congenital conditions like
CMD are present at birth. An infant may have weak muscles, a curved spine
and joints that are too stiff or loose. Children with CMD may have learning
disabilities, seizures and vision problems.
 Emery-Dreiffus muscular dystrophy (EDMD): This condition tends to
affect children. Symptoms, such as weak shoulders, upper arms and calf
muscles, appear by age 10. EDMD also affects the heart.
 Limb-girdle muscular dystrophy (LGMD): This disease affects the
muscles closest to the body including the shoulders and hips. It affects
people of all ages. Approximately two out of 100,000 people in the U.S.
have LGMD.
 Myotonic dystrophy: People with myotonia have trouble relaxing their
muscles. For instance, you might find it difficult to let go of a loved one’s
hand. The disease also affects the heart and lungs. This condition tends to
affect adults of European descent and occurs in approximately 10 out of
100,000 people.

Oculopharyngeal muscular dystrophy (OPMD): This rare form of muscular

dystrophy weakens muscles in the eyelids and throat. Symptoms, such as droopy
eyelids (ptosis) and difficulty swallowing (dysphagia), often appear between the
40s and 60s. About one in 100,000 people have OPMD.
SYMPTOMS AND CAUSES

What causes muscular dystrophy?

Genetic mutations, or changes, cause most forms of muscular dystrophy. One or

both parents may pass a faulty gene to their child even if the parent doesn’t have
the condition. Rarely, a person develops muscular dystrophy spontaneously,
meaning there’s no known cause.

What are the symptoms of muscular dystrophy?

Muscle weakness is the primary symptom of muscular dystrophy. Depending on

the type, the disease affects different muscles and parts of the body. Other signs of
muscular dystrophy include:

Enlarged calf muscles.

Difficulty walking or running.

Unusual walking gait (like waddling).

Trouble swallowing.

Heart problems, such as arrhythmia and heart failure (cardiomyopathy).

Learning disabilities.

Stiff or loose joints.

Muscle pain.

Curved spine (scoliosis).

Breathing problems.
How is muscular dystrophy diagnosed?

If your healthcare provider suspects muscular dystrophy, you or your child may
undergo one or more of these diagnostic tests:

An enzyme and protein blood test checks for elevated levels of an enzyme called
creatine kinase. High levels can indicate muscle damage caused by muscular
dystrophy.

Electromyography (EMG) measures the electrical activity of muscles and nerves.

A muscle biopsy looks for cell changes in muscle tissue.

Genetic tests identify gene mutations linked to muscular dystrophy.

Complications of muscular dystrophy?

Muscular dystrophy affects your muscles, heart and lungs. As the disease
progresses, you may be more prone to:

Heart problems, such as arrhythmias and heart failure.

Respiratory infections, including pneumonia.

Breathing problems.

Choking.

Prognosis

Muscular dystrophy is a progressive disease. Symptoms get worse over time.

Physical and occupational therapy, and medical devices like walkers, can help you
maintain mobility and independence for as long as possible. Medical specialists
provide therapies and can offer recommendations to protect your heart and lungs.
OT MANAGEMENT

Evaluations

Evaluate self-care skills and make recommendations on techniques or equipment to

maximize functional independence.

Self-care skills could include: eating, grooming, dressing, bathing, toileting, and
mobility required for self-care tasks.

Equipment for self-care tasks: commode chairs, shower chair, hospital bed, hoyer
lift, standers, mobile arm supports.

Evaluate the need for a mobility device; manual wheelchair, power assist
wheelchair, or full power wheelchair.

Make recommendations on environmental access/controls.

Make recommendations for home modifications to improve access and functional

independence.

Upper extremity range of motion and strength; resting hand splints to maintain
wrist and finger range of motion, orthotics to better position a hand for function.

Make recommendations for school accommodations to improve access to learning;

school accommodations ; assist with writing or use of technology as an alternative
to handwriting.
Provide suggestions to help families advocate for their child, facilitate
developmental progression and promote outlets for creativity, social interactions,
and feelings of competency.

INTERVENTIONS

Interventions that may be initiated or assisted by an OT, may include: splinting,

adaptive equipment, assistive technology, accommodation programs for school
(504 or IEP), pain management, or assisted caregiver training.