Ullrich's congenital atonic sclerotic muscular dystrophy. A case report

J Neurol. 1989 Feb;236(2):108-10. doi: 10.1007/BF00314406.

Abstract

A 5-year old girl with Ullrich's atonic-sclerotic muscular dystrophy is reported and 16 previously reported cases are reviewed. The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and hyperhidrosis, allow recognition of this subtype of congenital muscular dystrophy, which has no specific pathological characteristics. There is evidence in favour of an autosomal recessive mode of inheritance.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / physiopathology