A Case of Ullrich's Disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie)

Brain Dev. 1979;1(1):61-7. doi: 10.1016/s0387-7604(79)80036-4.

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.

Publication types

  • Case Reports

MeSH terms

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