Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes

Neuromuscul Disord. 2001 Jul;11(5):485-8. doi: 10.1016/s0960-8966(00)00218-2.

Abstract

Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. The variability of disease expression in these two siblings suggests that a proximal myotonic dystrophy-like variant may occur in proximal myotonic myopathy.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Family Health
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Myotonic Disorders / classification*
  • Myotonic Disorders / genetics
  • Myotonic Disorders / pathology*
  • Myotonic Dystrophy / classification*
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / pathology*
  • Nuclear Family
  • Phenotype