Muscular dystrophy is a rare group of genetic disorders that cause muscle weakness and loss of muscle tissue, which get worse over time.
There are many different types of muscular dystrophy:
- Becker muscular dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Limb-girdle muscular dystrophy
- Oculopharyngeal muscular dystrophy
More than 50,000 people in the United States have 1 of the various forms of muscular dystrophy.
The rate of the progression or pattern depends on the type of dystrophy. Some can progress slowly and others confine the patient to a wheelchair within a few years.
Muscular Dystrophy Symptoms
Muscular dystrophy symptoms usually start in childhood or early adolescence. Symptoms generally start by affecting the voluntary muscles, which gradually get weaker.
Children may be slow to walk or to master certain motor activities. They may have weakness initially in the muscles closer to the body and then gradually develop problems in their hands and feet, as well as in the respiratory and cardiac muscles.
Other symptoms include:
- Frequent falling
- Problems walking
- Eyelid drooping
- Muscle and skeletal deformities
Certain muscular dystrophies, such as Duchenne dystrophy, may ultimately be fatal, while others have muscle weakness that causes the person little disability.
Muscular Dystrophy Diagnosis
A physical examination, neurological examination and your medical history will help the doctor determine the type of muscular dystrophy you may have. Specific muscle groups are affected by different types of muscular dystrophy.
Other testing may be required:
- Blood tests
- Electromyography (EMG) to test single muscle fibers
- Nerve conduction studies
- Electrocardiography to monitor cardiac changes
- Muscle biopsy
Muscular Dystrophy Treatment
There are no known cures for the various muscular dystrophies. Controlling the symptoms and maximizing the quality of life are the goals of treatment.
Physical therapy may help maintain muscle strength and function, as can orthopaedic appliances like braces and wheelchairs. Activity is usually encouraged, depending on the patient.
Steroids can sometimes help slow the progression of the disorder.
Muscular dystrophy gradually worsens and can eventually cause mental impairment.
Muscular Dystrophy Investigation
A major jump in the research of muscular dystrophy came in 1986 with the identification of the gene for a specific type of muscular dystrophy.
Since then scientists have been working to identify the genes and the proteins that cause other muscular dystrophies. Studies are working to figure out ways to insert new genes or to compensate for the gene defect.
Steroids are also being investigated to slow or reverse the progression of the disease.
Muscular Dystrophy Association Clinic
The Muscular Dystrophy Association (MDA) sponsors a monthly clinic that provides comprehensive medical services to patients with certain neuromuscular diseases.
Patients who participate in the MDA clinic will receive a neurological examination, appropriate testing necessary to achieve diagnosis, physical therapy assessments and follow-up care from our neuromuscular specialists.
They may also be eligible for evaluation by cardiologists, orthopedists and other specialists at the Medical Center for problems related to their MDA diagnosis.
Once a patient is affiliated with the MDA, a patient is eligible for direct services that may include the purchase and repair of wheelchairs and braces, recreation at an MDA summer camp and selected transportation needs.