A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie).
An unique myopathy described by Ullrich in 1930 was reported in a 4-year-old Japanese boy. Major clinical findings included proximal joint contracture, muscle hypotonia, prominent calcaneus, high-arched palate, and normal intelli gence. Muscle biopsy showed rather small muscle fivers with variations in size and proliferation of connective tissue. A review of 15 cases in the literature revealed this type of myopathy as a distinctive entity to be classified as a myopathic arthrogryposis multiplex congenita, rather than in the group of muscular dystrophies.
D001176:Arthrogryposis / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital* / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000473:pathology