Definition:
Referring to a group of genetic and hereditary muscle disease that cause progressive muscle weakness, muscular dystrophies are characterized by progressive skeletal muscle weakness defects in muscle proteins, and the death of muscle cells and tissue. There are nine diseases that are classified as muscular dystrophies namely Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss.
Diagnosis:
Results of a muscle biopsy are the basis for the diagnosis of muscular dystrophy. A DNA blood test may be all that is needed in some cases though.
Treatment:
The disease has no known cure and inactivity can worsen a patient's condition. Orthopedic instruments and physical therapy may be helpful though. The latter can prevent contractures and orthoses. Corrective orthopedic surgery may be considered necessary to improve the quality of life in some cases. For Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy, a pacemaker may be required.
Symptoms and Signs:
Principal symptoms of any form of muscular dystrophy are progressive muscular wasting (weakness), poor balance, frequent falls, walking difficulty, waddling gait, calf pain, respiratory difficulty, muscle contractures, drooping eyelids, gonadal atrophy, scoliosis, and inability to walk. There some types of the disorder that can affect the heart that may cause cardiomyopathy or arrhythmias.
Causes:
Muscular dystrophy conditions are genetic and follow various inheritance patterns. Duchenne muscular dystrophy (DMD) for one is inherited in an X-linked recessive pattern, which means that the mutated gene that causes the disorder is located on the X chromosome, and is considered sex-linked.
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