Chronic spinal muscular atrophy of facioscapulohumeral type.
Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.
D000200:Action Potentials; D000293:Adolescent; D000328:Adult; D002908:Chronic Disease; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000503:physiopathology*; D009133:Muscular Atrophy / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree