Distal myopathies in Finnish patients

Duodecim. 2016;132(18):1635-44.

Abstract

Distal myopathies are a group of rare muscular dystrophies comprising more than 20 different genetic entities. The first distal myopathy in Finland, tibial muscular dystrophy, was identified more than 20 years ago. Muscle weakness predominantly affects the feet and hands, although variable weakness can be detected clinically and on muscle MRI in the proximal muscles in the later stages of the disease. Advanced molecular genetic techniques have enabled identification of several distinct distal myopathies in Finland. The clinical findings of different distal myopathies overlap, but there are also distinguishable differences that might help final genetic diagnostics.

Publication types

  • Review

MeSH terms

  • Distal Myopathies / epidemiology*
  • Distal Myopathies / genetics*
  • Finland / epidemiology
  • Humans