Early onset facioscapulohumeral muscular dystrophy.

  title={Early onset facioscapulohumeral muscular dystrophy.},
  author={Oebele F. Brouwer and George W. Padberg and E Bakker and Cisca Wijmenga and Rune R. Frants},
  journal={Muscle & nerve. Supplement},
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… CONTINUE READING