Muscular Dystrophy

What is Muscular Dystrophy?

Muscular dystrophies are neuromuscular diseases that are usually—but not always—inherited. They cause progressive muscle weakness and degeneration.

Muscular dystrophies are caused by abnormal genes that interfere with the production of proteins needed to form healthy muscle.

While there are more than 30 different types of muscular dystrophies, there are nine primary forms of the disease:

Becker
Congenital
Distal
Duchenne (DMD)
Emery-Dreifuss
Facioscapulohumeral (FSHD)
Limb-girdle
Myotonic
Oculopharyngeal

Muscular Dystrophy Symptoms

Muscular weakness is the first sign of muscular dystrophies. This muscle weakness can cause the following symptoms:

Difficulty getting up from a seated position
Difficulty raising arms to wash hair
Exercise intolerance; excessive muscle pain after exercising
Protruding shoulder blades
Muscle enlargement

Certain forms of muscular dystrophies may lead to the following:

Spinal curvature
Respiratory insufficiency and shortness of breath
Intellectual disabilities
Learning disabilities
Eye defects
Seizures

Some forms may lead to weakness of the heart and respiratory muscles as the disease progresses.

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Muscular Dystrophy Treatments

Treatment for muscular dystrophy aims to maximize quality of life and enable patients to live as independently as possible. Yearly visits to assess for complications of muscular dystrophy are important. Adaptive devices, mobility equipment, genetic counseling, and other strategies give patients the best possible chance at maintaining independence.

A few rare types of muscular dystrophy have specific treatments available that target the underlying disease with enzyme replacement therapy or other novel treatment techniques.

Although there is no cure for muscular distrophy, the following treatments may be used to relieve symptoms:

Occupational therapy
Orthotics
Physical therapy
Respiratory therapy
Speech therapy

What is being done about muscular dystrophy?

Finding treatments for muscular dystrophy has been a challenge because of the genetic nature of these diseases. Recently, the ability to manipulate genes and even the ability to insert missing genes has spurned a new era of gene therapy.

Money dedicated to this type of research is more available than ever. As a result, medications that can slow certain types of muscular dystrophy are on the horizon and will hopefully be helping patients in the next few years.

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Additional Information

How common are muscular dystrophies?

Muscular dystrophies are rare neuromuscular diseases.The most common form of muscular dystrophy is Duchenne muscular dystrophy, which manifests in early childhood and almost exclusively affects boys.