A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie).

Abstract

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.

• Authors: K Nihei, S Kamoshita, T Atsumi
• Journal: Brain & development (Brain Dev) Vol. 1 Issue 1 Pg. 61-7 ( 1979) ISSN: 0387-7604 [Print] Netherlands
• PMID: 551739 (Publication Type: Case Reports, Journal Article)

Topics

• Arthrogryposis (diagnosis, pathology)
• Biopsy
• Child, Preschool
• Humans
• Male
• Muscle Hypotonia (congenital, pathology)
• Muscles (pathology)
• Muscular Dystrophies (congenital, pathology)