A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance

Neuromuscul Disord. 1994 Mar;4(2):139-42. doi: 10.1016/0960-8966(94)90005-1.

Abstract

We describe a Danish family of five generations showing a slowly progressive autosomal dominant limb-girdle myopathy with onset in early childhood. Three patients from two generations were examined and showed weakness predominantly of the proximal muscles of upper and lower extremities. Early contractures of wrist, tight heel cords, metacarpophalangeal and interphalangeal joints were present. Walking ability was partly preserved. Serum creatine kinase activity was normal or slightly elevated. EMG and biopsy showed mildly myopathic changes. Magnetic resonance images of the thigh showed severe atrophy of all compartments but with musculus semimembranosus, sartorius, and gracilis relatively preserved. This myopathy has a clinical picture similar to the Bethlem myopathy.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child, Preschool
  • Creatine Kinase / blood
  • Electromyography
  • Female
  • Genes, Dominant*
  • Heart / physiopathology
  • Humans
  • Muscles / pathology
  • Muscles / physiopathology
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology

Substances

  • Creatine Kinase