Genetic counselling in facioscapulohumeral muscular dystrophy.
نویسندگان
چکیده
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.
منابع مشابه
Creatine phosphokinase in facioscapulohumeral muscular dystrophy.
Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
متن کاملFacioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.
A questionnaire about the interest in and demand for preclinical diagnosis for facioscapulohumeral muscular dystrophy (FSH) was sent to 46 patients. Most stated that they would have liked to have known their diagnosis earlier in order to seek more efficient help, to avoid strenuous activities, to prepare themselves emotionally, or to choose an appropriate profession. Similar arguments were used...
متن کاملEstimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.
In any family study using information gathered retrospectively, the influence of the method of ascertainment on the observed segregation ratio in sibships needs careful consideration. The study of kindred members from outside the area of primary ascertainment is invaluable in providing segregation data with minimal ascertainment bias. For facioscapulohumeral muscular dystrophy (FSHD), using thi...
متن کاملElderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. This case is one of the oldest onset of weakness in genetically con...
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BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an e...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 10 شماره
صفحات -
تاریخ انتشار 1991