STUDIES IN DISORDERS OF MUSCLE. I. THE PROBLEM OF PROGRESSIVE MUSCULAR DYSTROPHY

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Abstract
A review of the history of the clinical description of muscular dystrophy is presented. From these descriptions and study of about 175 cases a working classification is proposed dividing progressive muscular dystrophy into a childhood and facioscapulohumeral type. In considering the pathogenesis of these disorders 3 facts emerge as well documented: They are usually genetically detd.; the pattern of muscular atrophy bears a remarkable similarity to the ontogenetic age of the muscles with the oldest muscles atrophying first; and the only well substantiated metabolic abnormality is creatinuria. The possibility that the genetic mechanism is an abnormality in the enzymes of muscle is discussed in the light of hereditary metabolic defects in Neurospora and the newer knowledge about muscle metabolism.