Ophthalmological findings in facioscapulohumeral dystrophy
نویسندگان
چکیده
منابع مشابه
Ophthalmological findings in myotonic dystrophy.
Dear Editor, We read with great interest the article by Ikeda et al. concerning ophthalmological findings in myotonic dystrophy (MD)1. We would like to thank the authors, because they cited a study we published in 2009, where we tried to understand the reasons for low intraocular pressure (IOP) in these patients. Our first goal was to check if this was a real hypotony or if it was related to an...
متن کاملFacioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...
متن کاملEarly onset facioscapulohumeral muscular dystrophy.
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 clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...
متن کاملThoracoscapular fusion for facioscapulohumeral dystrophy.
Eleven thoracoscapular fusion operations have been done on six patients. The indication is symptomatic winging of the scapula caused by thoracoscapular muscle paresis with intact function in the deltoid. This situation almost exclusively occurs in facioscapulohumeral dystrophy. The operation is successful in achieving stability of the scapula and in greatly improving function and cosmesis. Alth...
متن کاملGenetic counselling in facioscapulohumeral muscular dystrophy.
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% ...
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ژورنال
عنوان ژورنال: Brain Communications
سال: 2019
ISSN: 2632-1297
DOI: 10.1093/braincomms/fcz023