Primary Myopathies

Recent favorable therapeutic reports1have revived interest in the muscular dystrophies. A brief historical review, however, revealed that this condition has been recognized at least for over a century. Bell2in 1830 first described cases in which the disease resembled pseudohypertrophic muscular dystrophy; Meryon,3Duchenne,4Erb5and Landouzy and Dejerine6greatly advanced knowledge of the subject through clinical and postmortem observations. It remained for Erb,7however, to give the first clear conception and differentiation of the myopathies. Shortly thereafter, Batten8suggested the following classification, which I have employed in this study: Simple atrophic type (Leyden-Moebius) (amyotonia congenita) Pseudohypertrophic type (Duchenne) Juvenile type (Erb) Facioscapulohumeral type (Landouzy-Dejerine) Distal type (Gowers and Spiller) Myotonia atrophica Mixed and transitional types To this list Spiller9would have added the true hypertrophic type. These forms have the common characteristics of being familial or hereditary and usually