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Please be advised that this information was generated on 2016-05-10 and may be subject to change. 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 clin ical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an ab normal 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. © 1995 John Wiley & Sons, Inc. Key words: facioscapulohum eral m uscular dystrophy • infancy-childhood • hearing loss • retinal vasculopathy * DNA rearrangemen