Mahjneh I, Haravuori H, Paetau A, Anderson L V B, Saarinen A, Udd B, Somer H
Department of Neurology, Oulu University Hospital, Finland.
Neurology. 2003 Jul 8;61(1):87-92. doi: 10.1212/01.wnl.0000073618.91577.e8.
The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family.
The disease showed autosomal dominant inheritance. Age at onset ranged from 32 to 45 years. The first symptoms for referral were clumsiness with the hands and frequent stumbling from a steppage gait. Muscle weakness was characterized by early involvement of the small muscles of the hands, gluteus medium, and both anterior and posterior muscle compartments of the legs. The disease progressed to involve other intrinsic muscles of the hands, as well as the forearm muscles, triceps and infraspinatus, and proximal lower limbs. Asymmetry of muscle involvement was common. EMG showed myopathic features, serum CK was normal or slightly elevated, and muscle biopsy showed many rimmed vacuoles and dystrophic changes. There was no evidence of linkage to Welander distal myopathy or tibial muscular dystrophy loci.
These patients may have a distinct distal myopathy. Genome-wide scan is undertaken in order to identify the disease locus.
作者对一个芬兰家族的7例远端肌病患者进行了临床、组织病理学、免疫细胞化学、电生理、影像学检查及分子遗传学分析。
该疾病呈常染色体显性遗传。发病年龄在32至45岁之间。最初引起就诊的症状是手部动作笨拙以及因跨阈步态而频繁绊倒。肌肉无力的特点是手部小肌肉、臀中肌以及小腿前后肌群早期受累。疾病进展后累及手部其他固有肌、前臂肌、肱三头肌和冈下肌以及下肢近端。肌肉受累不对称很常见。肌电图显示肌病特征，血清肌酸激酶正常或轻度升高，肌肉活检显示许多镶边空泡和营养不良性改变。没有证据表明与韦兰德远端肌病或胫骨型肌营养不良基因座存在连锁关系。
这些患者可能患有一种独特的远端肌病。进行全基因组扫描以确定疾病基因座。
