FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY IN THE DUTCH POPULATION

Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at pre sent 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 fou nd in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low freq uencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant f amilies. The clinical pictures in the linked and nonlinked families we re identical. (C) 1995 John Wiley and Sons, Inc.