Muscular Dystrophy
Muscular dystrophy is a term that describes a genetic group of more than 30 genetic and hereditary muscle diseases; It is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In some forms of muscular dystrophy, cardiac and smooth muscles are affected. Muscular dystrophy is the most well known of hereditary diseases.
The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In some cases, a DNA blood test may be all that is needed. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Often, there is a loss of muscle mass, which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
There is no known cure for muscular dystrophy. Inactivity can worsen the disease. Physical therapy and orthopedic instruments may be helpful. There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures, orthoses and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine.
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Muscular Dystrophy
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