What is Muscular Dystrophy?

Muscular Dystrophy (MD) is a disease in which the muscles that control movement (called voluntary muscles) gradually weaken. MD is a family of diseases with varying severity. Many forms are familial. There are nine major forms of muscular dystrophy:

· myotonic
· Duchenne
· Becker
· congenital
· distal
· limb-girdle
· facioscapulohumeral
· oculopharyngeal
· Emery-Dreifuss

The most common form of MD (particularly in adults) is Myotonic Muscular Dystrophy, which in its severest form can make a newborn profoundly weak, and in its mildest form can cause mild hand and facial weakness as an adult.

The best-known form is Duchenne Muscular Dystrophy, which affects boys between 2-6 years of age. Duchenne MD initially presents itself in the form of leg weakness. It is caused by the absence of a protein called Dystrophin, which maintains the integrity of the muscle membrane. Although the progression varies, many who suffer from Duchenne MD may eventually need a wheelchair as the spine, arms and legs become incapacitated.

How do we diagnose Muscular Dystrophy?

After a careful history and physical examination, the neurologist will order diagnostic tests to establish the diagnosis. These tests include blood enzyme levels and genetic tests that show abnormalities in DNA. Some patients require electrophysiologic testing such as electromyography where a needle is inserted into several muscles to record the electrical activity. Other patients may require a biopsy where a tiny amount of muscle tissue is surgically removed for study under a microscope.

How do we treat patients with Muscular Dystrophy?

Patients with muscular dystrophy need to be identified so that family members can be given genetic counseling and therapeutic interventions can be carried out. Currently occupational therapy and physical therapy have been shown to be of value. Orthopedic surgical intervention to correct spinal and joint deformities can also help.

  CSSD Division of Neurology