Department of Medical Genetics, University of Athens, School of Medicine, Aghia Sophia Children's Hospital, Athens, Greece.
Neuromuscul Disord. 2012 Apr;22(4):339-49. doi: 10.1016/j.nmd.2011.11.001. Epub 2012 Feb 21.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic myopathy with a remarkable intra- and inter-familial clinical heterogeneity. This study reports the clinical and genetic analysis of 133 individuals from 71 unrelated Greek families based on a revised clinical severity score (rCSS) index which was developed for clinical assessment regarding the disease progression. A high ratio (31/62, 50%) of probands' family members was found to be asymptomatic or minimally affected gene carriers of a contracted 4q allele. Moreover, a notable clinical variability of FSHD is reported concerning the detection of an identical de novo 13 b EcoRI fragment in monozygotic twins, as well as indications of founder effect. This is the first survey that presents data of FSHD families from an East Mediterranean country supporting the speculation that the prevalence of disease might be significantly underestimated and that synergistic factors could play an essential role on the progression of the disease.
面肩肱型肌营养不良症（FSHD）是一种具有显著的家族内和家族间临床异质性的遗传性肌病。本研究报告了基于修订后的临床严重程度评分（rCSS）指数对 71 个无关希腊家族的 133 名个体进行的临床和遗传分析，该指数是为评估疾病进展而开发的。结果发现，31/62（50%）的先证者家族成员是无症状或仅有轻微影响的收缩 4q 等位基因携带者。此外，还报道了 FSHD 的显著临床变异性，包括在同卵双胞胎中检测到相同的从头 EcoRI 13b 片段，以及存在创始效应的迹象。这是首次从东地中海国家报告 FSHD 家族的数据，支持了这样一种推测，即疾病的流行可能被严重低估，协同因素可能在疾病的进展中发挥重要作用。
