Facioscapulohumeral muscular dystrophy in the Dutch population

Muscle Nerve Suppl. 1995;2:S81-4.


Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4
  • Face
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Variation
  • Humans
  • Humerus
  • Male
  • Mosaicism
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Mutation
  • Netherlands
  • Scapula
  • Sex Characteristics