Muscular Dystrophy

Muscular Dystrophy

Muscular dystrophy is a genetic diseases that progressively weakens and degenerates the skeletal muscles. Congenital muscular dystrophy is discovered at birth, while becker usually developes during adolescence. There are several forms of muscular dystrophy.

The 3 most common types of MD are Duchenne, Facioscapulohumeral, and Myotonic. Each of these differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness.

Duchenne usually affects boys and is the result of mutations in the gene that regulates dystrophin. Dystrophin is a protein involved in maintaining the integrity of muscle fiber. Duchenne usually begins between the ages of 3 and 5, and progresses very rapidly. Most patients become unable to walk at around age 12 and by age 19 need a respirator.

Facioscapulohumeral is usually onset in adolescence years. Facioscapulohumeral causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling.

Myotonic can be onset at any age and is characterized by myotonia. Myotonia is a prolonged muscle spasm in the fingers and facial muscles. Symptoms of myotonic MD are an unusual high stepping gait, cataracts, cardiac abnormalities and endocrine disturbances. Individuals with myotonic are prone to have long faces and drooping eyelids.

Currently there is no cure or specific treatment for muscular dystrophy. Respiratory therapy and physical therapy can help prevent painful muscle contractures. Orthopedic equipment can be used for support. Often corrective orthopedic surgery may be used to improve the quality of life. Also corticosteroids such as prednisone can help slow the rate of muscle deterioration. Myotonia is usually treated with medications such as mexiletine or quinine.