The erythrocyte membrane in human muscular dystrophy

More than 250 different forms of human neuromuscular diseases are known. They differ in age of onset, severity of weakness, rate of progression, type of inheritance, groups of muscles affected, frequency of incidence. Sometimes the clinical symptoms are not restricted to nervous and/or muscular tissue. The muscular dystrophies form an extensive subdivision of the neuromuscular diseases. This group of disorders is inheritable and it is accompanied by progressive weakness and degeneration of skeletal muscle. The aetiology is not known. The most progressive type of the dystrophies is the Duchenne form, first described in detail by Duchenne de Boulogne in 1868 (83) . Another representative, with several dissimilarities with the Duchenne type, is the myotonic dystrophy, also called dystrophia myotonica, myotonia atrophica or Steinert•s disease. This disorder shows, apart from dystrophic characteristics, myotonic symptoms, i.e. there exists a delay in relaxation of the affected muscles after contraction. The myotonic and Duchenne types are the most frequently occurring forms of human muscular dystrophy. These types of muscular dystrophy have been the subject of this thesis, and details of the disorders will be given first.