Download Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical by David N. Cooper PDF

By David N. Cooper

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic sickness concerning slowly innovative muscle degeneration during which the muscle groups of the face, shoulder blades and top hands are one of the so much significantly affected. it's the 3rd most typical inherited muscular dystrophy, affecting 1 in 20,000. the hunt for the molecular foundation of the illness is of curiosity to all genetic researchers, regarding a deletion outdoors a coding area leading to over-expression of adjoining genes. This quantity summarizes the present knowing of the affliction, together with medical, molecular and healing facets.

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Extra resources for Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical Medicine and Molecular Cell Biology

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E. (1996) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat. Genet. 9:132–140. , Arahata, K. (1998) Epilepsy and mental retardation in a subset of early onset 4q35- facioscapulohumeral muscular dystrophy. Neurology 50:1791–1794. , Tupler, R. (2002) Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110:339–348. R. (2003) Transcriptional derepression as a cause of genetic diseases. Curr.

Upper limb involvement Involvement of the face occurs at an early age but since the majority of patients are unaware of their weakness, it is often only noticed if particularly looked for. Many years later the patient notices difficulty abducting the arms. The main effects of this are to cause difficulty in putting objects onto shelves above shoulder height, difficulty in combing hair, and easy fatigue. At this stage, the involvement of the muscle of the FSHD facioscapulohumeral muscular dystrophy 22 shoulder can be so specific that the patient has little or no difficulty with any other activity.

1995) noted hearing impairment appeared to show a familial association. , 1994, 1995). More than 50 cases had been reported, 63% of which had hearing impairment. They acknowledged that infantile FSHD only accounts for 5% of FSHD cases and that selective reporting and ascertainment bias will almost certainly affect the publication of cases. Although many cases reported in the literature were undoubtedly familial, all of their own patients with hearing impairment were sporadic cases. , 2002). In fact, statistical analysis suggested better hearing when compared to age- and gender-matched controls.

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