Facioscapulohumeral Muscular Dystrophy: The Molecular Signaling Pathway
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چکیده
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 usually progresses very slowly, allowing FSHD patients to adapt and compensate muscular deficiencies, at least at the functional level [1].
منابع مشابه
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
Facioscapulohumeral muscular dystrophy is a dominantly inherited myopathy associated with chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4. DUX4 is encoded within each unit of the D4Z4 array where it is normally transcriptionally silenced and packaged as constitutive heterochromatin. Truncation of the array to less than 11 D4Z4 units (FSHD1) or mutations in SMCHD1 (FSHD2) r...
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Facioscapulohumeral dystrophy (FSHD) is the third most common type of muscular dystrophy after Duchenne and myotonic dystrophy with an incidence of 12 per 100,000 worldwide [1,2]. FSHD is an autosomal dominant disease with an insidious onset and development, characterized by progressive weakness and atrophy of facial, shoulder girdle and upper arm muscles [1]. Currently FSHD diagnosis is mainly...
متن کاملبررسی اثر مدل های ساده و پیچیده یادگیری حرکتی روی عملکرد اندام فوقانی بیماران دچار Facioscapulohumeral muscular dystrophy حین فعالیت های روزمره
مقدمه: عمده مشکل بیماران دیستروفی انجام فعالیتهای روزمره می باشد که به دلیل ضعف عضلات اندام فوقانی موجب وابستگی آنها می گردد. هدف توانبخشی این بیماران افزایش کارایی اندام فوقانی در جهت ایجاد استقلال در زندگی شخصی است. در این مطالعه اثر یادگیری حرکتی روی کارایی اندام فوقانی بررسی شد. روش کار: دو مطالعه مختلف برای بررسی اثر یادگیری حرکتی و پیچیدگی مدل یادگیری روی عملکرد اندام فوقانی طراحی و دو مد...
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متن کاملPii: S0960-8966(02)00014-7
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