Facioscapulohumeral muscular dystrophy in the dutch population

✍ Scribed by Dr. G. W. Padberg; Dr. R. R. Frants; O. F. Brouwer; C. Wijmenga; E. Bakker; L. A. Sandkuijl

• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Weight: 404 KB
• Volume: 18
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.880181315

✦ Synopsis

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 autosomaldominant families. The clinical pictures in the linked and nonlinked families were identical. 0 1995 John Wiley & Sons, Inc.