Muscular Dystrophy

Muscular dystrophy (MD) is a group of disorders, many inherited, which involve progressive muscle weakness and loss of muscle tissue. The muscles affected vary, but can affect the pelvis, shoulder, face or elsewhere. Adults can have the disease but the more severe forms occur in early childhood. Symptoms vary with the different types of the disorder. Some types, such as Duchenne muscular dystrophy, are deadly, while other types cause little disability and are associated with normal life span.

Common symptoms include: muscle weakness that slowly gets worse, frequent falls, delayed development of muscle motor skills, walking problems, eyelid drooping and drooling. Some types of the condition are also associated with mental retardation, irregular heartbeat, scoliosis or club foot. A muscle biopsy, EMG (electromyography) and ECG (electrocardiography) may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed. The goal of treatment is to control symptoms and may include physical therapy and orthopedic appliances such as braces and wheelchairs to aid mobility. In some cases, surgery on the spine or legs may help improve function. Genetic counseling is advised when there is a family history of muscular dystrophy. Women with no symptoms may still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.

Contact us to learn more about muscular dystrophy and related conditions.