Muscular dystrophy (MD) refers to a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The major forms of Muscular Dystrophy include myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal and Emery-Dreifuss. Duchenne is the most common form of muscular dystrophy affecting children, and myotonic muscular dystrophy is the most common form affecting adults. Muscular dystrophy can affect people of all ages.
Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later.
“For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin protein is missing or abnormal, and DNA testing is used to analyze the condition of the related gene. Genetic testing also is available for facioscapulohumeral and myotonic muscular dystrophies” (Web, 1).
Forms and Symptoms
In the Duchenne form of the disease, symptoms usually are noted before age five. The muscles first affected are those of the pelvis and trunk, resulting in spinal deformity and a waddling gait. Wasting of almost all muscle groups may be advanced by the late teens. Death may result from respiratory weakness or from involvement of the heart muscle. Because inheritance of this form is by an X-linked recessive mechanism, virtually all patients are boys. Becker muscular dystrophy is a milder form of Duchenne muscular dystrophy.
The facio-scapulo-humeral form of the disease affects both sexes equally and results in weakness and wasting of the shoulder girdle and upper arms. It is usually noted around the onset of puberty. The characteristic weakness of the facial muscles may occasionally be seen during the first years of life.......
