Early onset facioscapulohumeral muscular dystrophy

Muscle Nerve Suppl. 1995;(2):S67-72.


We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclude that early onset FSHD does not differ from regular FSHD clinically or genetically. However, the precise mechanisms involved in the extensive clinical variability of the disease are still unknown.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Chromosomes, Human, Pair 4
  • Deoxyribonuclease EcoRI*
  • Face
  • Humans
  • Muscle Weakness
  • Muscular Dystrophy, Facioscapulohumeral*


  • Deoxyribonuclease EcoRI