Muscular Dystrophy

The facio-scapulo-humeral form of the disease affects both sexes equally and results in weakness and wasting of the shoulders, upper arms and facial muscles. It is usually distinguished around the commencement of puberty. The majority of patients remain able to walk until an advanced age, this means that the disease can spand a few decades. The disease progresses slowly with some periods of rapid deterioration.

The limb-girdle type of the disease also affects both sexes. Muscles of either the shoulder or hip girdle may be involved. The disease may commence early or late in life, and more often than not the course is slow with cardiopulmonary complications often occurring in later stages of the disease. Most of the muscles of the body may be affected later on. 

In myotonic muscular dystrophy, delayed relaxation of the muscles accompanies wasting and weakness of the face, neck, feet and hands. Cataracts of both eyes may occur, and reproductive functions may be disturbed. The age of onset and harshness of symptoms are unpredictable, but the disease is inclined to occur earlier and is more severe in later generations of an affected family. Myotonic muscular dystrophy, as well as the two previous, affects both sexes, but children of affected mothers are more likely to become heir to a severe form of the disease than children of affected fathers. The disease progresses slowly, spanning 50 to 60 years sometimes.

Muscular dystrophy is caused by genetic mutations, but the biochemical steps by which this genetic defect manifests itself in the degenerative process in the muscle are not recognized. since specific treatment is not available, general measures, including physical and occupational therapy, are used. Genetic tests for mutations in the different genes causing muscular dystrophy provide rapid and accurate diagnosis for patients. In the case of the X-linked Duchenne muscular dystrophy, these tests allow the detection of the female carrier.