Distal myopathies

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15.

Abstract

In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize are also considered, because they show prominent distal limb weakness.

Keywords: Distal myopathy; Laing myopathy; Markesbery-Griggs myopathy; Myofibrillar myopathy; Myoshi myopathy; Nonaka myopathy; Udd distal myopathy; Welander myopathy.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Age of Onset
  • Disease Progression
  • Distal Myopathies / diagnosis*
  • Distal Myopathies / epidemiology
  • Distal Myopathies / genetics
  • Humans
  • Muscle Proteins / genetics
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation

Substances

  • Muscle Proteins