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Health Information

Muscular Dystrophy

Definition

Muscular dystrophy is a group of inherited, progressive muscle disorders. All forms cause progressive weakness and degeneration of the muscles that control movement. Some also affect the heart or other organs. Age of onset is between infancy to adulthood. The different forms include:

  • Duchenne dystrophy, which is the most common
  • Becker dystrophy, which is a milder form of Duchenne dystrophy
  • Myotonic muscular dystrophy, which can begin in late adulthood
  • Facioscapulohumeral muscular dystrophy, which affects the muscles of the face, shoulder blades, and upper arms
  • Congenital muscular dystrophy, which is diagnosed on or near birth and results in overall muscle weakness
  • Distal muscular dystrophy, which affects the distal muscles of the lower arms, hands, lower legs, and feet
  • Emery-Dreifuss muscular dystrophy, which affects the muscles of the shoulders, upper-arms, and calf muscles
  • Limb-girdle muscular dystrophy, which affects the muscles around the hips and shoulders
  • Oculopharyngeal muscular dystrophy, which affects swallowing and the ability to keep the eyes open

Causes

This condition is caused by defects in genes that control muscle development and function. In some cases, the genes are passed from parent to child. In other cases, the genetic mutation occurs spontaneously.

Risk Factors

These factors increase your chance of developing muscular dystrophy. Tell your doctor if you have any of these risk factors:

  • Family member with muscular dystrophy
  • Sex: males are at increased risk for Duchenne dystrophy and Becker dystrophy

Symptoms

Each type of muscular dystrophy has its own unique symptoms. For example, the muscles that are affected may differ depending upon the type.

Symptoms common to most forms of muscular dystrophy may include:

Initial symptoms:

  • Progressive weakening of muscles
  • Enlargement of muscles as they weaken
  • Muscle cramping
  • Clumsiness
  • Frequent falling and difficulty getting up

Later symptoms:

  • Muscle contraction and stiffening
  • Muscle deterioration
Severe Muscle Contraction of the Hand
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Symptoms specific to Duchenne and Becker dystrophy include:

  • Initial symptoms:
    • Usually muscles closest to the trunk become weak first. Then, muscles further away weaken as the disease advances.
    • Enlargement of calf muscles as they weaken
  • Later symptoms
    • Abnormally curved spine
    • Respiratory infections
    • Severe muscle deterioration, usually leading to use of a wheelchair
    • Difficulty breathing
    • Muscle contraction and stiffening—often severe
    • Distortion of the body
    • Reduced intelligence

Symptoms specific to myotonic muscular dystrophy include:

  • Difficulty letting go after a handshake
  • Reduced intelligence
  • Excessive sleeping

Symptoms usually become worse over time. In many forms, life expectancy is shortened.

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done.

Your blood may be tested for evidence of muscle damage

A muscle biopsy will identify the type of muscular dystrophy

Your muscles and nerves may be tested. This can be done with:

Treatment

There is no cure for muscular dystrophy. However, treatment may help improve the symptoms.

Treatment may consist of:

Physical Therapy and Exercise

Physical therapy and exercise can help prevent the muscles from permanently contracting and stiffening.

Braces

In earlier stages, wearing braces may improve your ability to move around. A back brace may slow curvature of the spine.

Medication

Medicines may include:

  • Corticosteroids to relieve muscle weakness in Duchenne muscular dystrophy
  • Creatine supplements may reduce fatigue and increase strength
  • Drugs for heart problems if muscular dystrophy affects the heart

Surgery

In severe cases, surgery may be needed to release muscles that are painfully tight. If there are heart problems, a pacemaker may be needed.

Prevention

Muscular dystrophy is an inherited disease. Get genetic counseling if you are concerned about having a child with muscular dystrophy, especially if you:

  • Have muscular dystrophy or a family history of the disease
  • May be a carrier of the gene for muscular dystrophy
  • Have a partner with a family history of the disease

Revision Information

  • Muscular Dystrophy Association

    http://www.mdausa.org

  • Muscular Dystrophy Family Foundation

    http://www.mdff.org

  • Canadian Institutes of Health Research

    http://www.cihr-irsc.gc.ca

  • Muscle Dystrophy Canada

    http://www.muscle.ca

  • Aartsma-Rus A, den Dunnen JT, et al. New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann NY Acad Sci. 2010;1214:199-212.

  • Amato AA, Griggs RC. Overview of the muscular dystrophies. Handb Clin Neurol. 2011;101:1-9.

  • Congenital muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/search/site/congenital. Accessed October 7, 2013.

  • Distal muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/distal-muscular-dystrophy. Accessed October 7, 2013.

  • Duchenne muscular dystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated March 15, 2013. Accessed July 25, 2013.

  • Emery-dreifuss muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/emery-dreifuss-muscular-dystrophy. Accessed October 7, 2013.

  • Escolar DM, Hache LP, et al. Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. Neurology. 2011;77(5):444-452.

  • Facioscapulohumeral muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/fsh-muscular-dystrophy. Accessed October 7, 2013.

  • Limb-girdle muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/limb-girdle-muscular-dystrophy. Accessed October 7, 2013.

  • NINDS muscular dystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/md/md.htm. Updated February 14, 2013. Accessed July 25, 2013.

  • Oculopharyngeal muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/oculopharyngeal-muscular-dystrophy/overview. Accessed October 7, 2013.