Genetic counselling in facioscapulohumeral muscular dystrophy.
Open Access
- 1 October 1991
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (10) , 655-664
- https://doi.org/10.1136/jmg.28.10.655
Abstract
Clinical data are presented from a survey of 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) in which over 500 family members were examined, including 168 affected subjects. New mutation could account for six isolated cases. Results suggest that 33% of heterozygotes over 40 years are mildly affected and a majority develop significant lower limb weakness; 19% over 40 years require wheelchairs. Presymptomatic testing of serum creatine kinase level (CK) is limited as a raised level occurs in only 80% of affected males under 40 years and 48% of affected women. Distribution of weakness, severity, age at onset, and CK varied between subjects, but provided no clinical evidence for genetic heterogeneity in a comparison between the 11 largest families. The conclusion of genetic homogeneity in FSHD, including subjects previously diagnosed as FSH type spinal muscular atrophy, is strongly supported by recent genetic linkage data.Keywords
This publication has 26 references indexed in Scilit:
- The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: Clinical study and geneticsClinical Genetics, 2008
- DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral diseaseThe Lancet, 1990
- Location of facioscapulohumeral muscular dystrophy gene on chromosome 4The Lancet, 1990
- Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.Journal of Medical Genetics, 1989
- Xp21 DNA PROBE IN DIAGNOSIS OF MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHYThe Lancet, 1989
- Infantile facioscapulohumeral muscular dystrophy: new observationsActa Neurologica Scandinavica, 1986
- Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafnessAnnals of Neurology, 1985
- Chronic spinal muscular atrophy of facioscapulohumeral type.Journal of Medical Genetics, 1976
- The Facio-Scapulo-Limb (or the Facioscapulohumeral) Type of Muscular DystrophyEuropean Neurology, 1974
- Creatine Phosphokinase in Facioscapulohumeral Muscular DystrophyBMJ, 1971