Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy
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DOI：
10.1097/00019052-199910000-00003
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发表时间：
1999-10-01
影响因子：
4.8
通讯作者：
Fitzsimons, RB
中科院分区：
文献类型：
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作者：
Fitzsimons, RB
面肩肱型肌营养不良症遗传学十年来的进展的标志是发现了新的遗传现象，例如正常个体中 4 号和 10 号染色体之间的亚端粒 DNA 交叉，以及认识到面肩肱型肌营养不良症缺失突变可能会导致更近端 DNA 的位置变异效应。突变的 DNA 本身可能不会被转录。较大的缺失往往会导致更严重的疾病。基于突变 DNA 短片段的检测，可以在 95% 到 100% 的病例中进行产前诊断，具体取决于父母面肩肱型肌营养不良症突变的确切性质。然而值得注意的是，受影响的近端基因的基因产物的性质，以及面肩肱型肌营养不良症、视网膜和耳蜗疾病的分子发病机制，是完全未知的。面肩肱型肌营养不良症肌肉活检中经常出现明显的血管周围炎症。已报道的同卵双胞胎中面肩肱型肌营养不良症的表达差异很大。这就提出了一个问题：T 细胞受体基因库或其他免疫基因的表达变化是否在确定面肩肱型肌营养不良症的严重程度方面发挥重要的调节作用。现在关注传统科学学科可能是合适的。对症治疗，例如肩胛翼和兔眼的治疗很重要，及时对视网膜渗出物进行光凝治疗可以减少视力丧失，这是一种非常罕见但真实的视网膜毛细血管扩张并发症。正在等待影响肌肉质量和发育的药物（例如沙丁胺醇）的合作试验结果。当前神经学观点 12：501-511。 (C) 1999 年利平科特·威廉姆斯和威尔金斯。
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. Curr Opin Neurol 12:501-511. (C) 1999 Lippincott Williams & Wilkins.