Facioscapulohumeral muscular dystrophy

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A decade's progress in facioscapulohumeral muscular dystrophy genetics has been marked by the discovery of novel genetic phenomena such as crossover of subtelomeric DNA between chromosomes 4 and 10 in normal individuals and by the recognition that the facioscapulohumeral muscular dystrophy deletion-mutation may cause a position variegation effect on more proximal DNA. The mutated DNA itself is probably not transcribed. Larger deletions tend to cause more severe disease. Antenatal diagnosis, based on detection of the short fragment of mutated DNA, is possible in between 95 and 100% of cases, depending on the precise nature of the parental facioscapulohumeral muscular dystrophy mutation. Yet remarkably, the nature of the gene product(s) of the affected proximal gene(s), as well as of the molecular pathogenesis of facioscapulohumeral muscular dystrophy muscle, retinal and cochlear disease, is completely unknown. Marked perivascular inflammation is often present in facioscapulohumeral muscular dystrophy muscle biopsies. The expression of facioscapulohumeral muscular dystrophy within reported monozygotic twinships differs greatly. This raises the question of whether variations in expression of the T-cell receptor gene repertoire or of other immune genes play an important modifying role in determining the severity of facioscapulohumeral muscular dystrophy. A focus on traditional scientific disciplines may now be appropriate. Symptomatic treatments, for instance of scapular winging and of lagophthalmos, are important, and timely photocoagulation of the retinal exudates which are a very rare, but real, complication of retinal telangiectasis can curtail visual loss. The results of collobarative trials of pharmacological agents such as albuterol which affect muscle mass and development are awaited.

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