Clinical features of facioscapulohumeral muscular dystrophy 2
نویسندگان
چکیده
منابع مشابه
Facioscapulohumeral 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 کاملWhat's in a name? The clinical features of facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle disorder. Although its name suggests otherwise, it comprises weakness of the facial, shoulder and upper arm muscles, and also of the trunk and leg muscles. Its severity and disease course vary greatly and mild or early FSHD can be difficult to recognise. Knowledge of its subtle signs and symptoms can lead direc...
متن کاملTreatment of facioscapulohumeral muscular dystrophy with Denosumab
BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is the 3(rd) most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment. CASE REPORT A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously by both genetic ...
متن کاملFacioscapulohumeral Muscular Dystrophy: The Molecular Signaling Pathway
Submit Manuscript | http://medcraveonline.com Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy found in adults, with an overall incidence of more than 1:20000 (source: Orphanet). It is classified among progressive muscular dystrophies, characterized by muscular fiber necrosis and degeneration giving rise to progressive muscular weakness and atrophy. Weakness usual...
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ژورنال
عنوان ژورنال: Neurology
سال: 2010
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3181f96175