Williams D R, Reardon K, Roberts L, Dennet X, Duff R, Laing N G, Byrne E
St. Vincent's Hospital, Melbourne, Australia.
Neurology. 2005 Apr 12;64(7):1245-54. doi: 10.1212/01.WNL.0000156524.95261.B9.
To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior.
Twelve affected and two possibly affected members from an Australian kindred were examined and investigated by EMG, imaging studies, histopathology, and genetic analysis.
Affected patients had a slowly progressive condition with symmetric, distal weakness and wasting of the anterior upper and posterior lower limbs, with sparing of tibialis anterior, even in advanced disease. All patients remained ambulant and there was no evidence of cardiac or respiratory muscle involvement. Serum creatine kinase levels were either normal or mildly elevated. Imaging studies showed widespread involvement of the posterior and lateral leg compartments. Proximal muscles were radiologically abnormal only in advanced disease. Muscles that were mildly affected clinically appeared normal on imaging. EMG in nine patients showed widespread myopathic changes. Muscle histopathology in four patients showed either end stage muscle or nonspecific myopathic findings without inflammation or vacuoles. Microsatellite markers for distal myopathy loci were analyzed and all known distal myopathy phenotype genes and linkage regions were formally excluded by multipoint analysis.
The affected patients in this kindred display a clinically distinct myopathy, with selective involvement of posterior lower and anterior upper limb muscles. The genetic analysis suggests the existence of one more distal myopathy locus.
报告一种以胫前肌未受累为特征的显性、缓慢进展性早发型远端肌病。
对来自一个澳大利亚家族的12名受累成员和2名可能受累成员进行了检查，并通过肌电图、影像学检查、组织病理学和基因分析进行了研究。
受累患者病情进展缓慢，表现为对称性、远端无力以及上肢前部和下肢后部肌肉萎缩，即使在疾病晚期胫前肌也未受累。所有患者仍可行走，且无心脏或呼吸肌受累的证据。血清肌酸激酶水平正常或轻度升高。影像学检查显示小腿后侧和外侧肌间隔广泛受累。仅在疾病晚期近端肌肉在影像学上出现异常。临床上轻度受累的肌肉在影像学上表现正常。9例患者的肌电图显示广泛的肌病性改变。4例患者的肌肉组织病理学检查显示为终末期肌肉或非特异性肌病表现，无炎症或空泡形成。对远端肌病基因座的微卫星标记进行了分析，通过多点分析正式排除了所有已知的远端肌病表型基因和连锁区域。
该家族中的受累患者表现出一种临床上独特的肌病，以下肢后部和上肢前部肌肉选择性受累为特征。基因分析提示存在一个以上的远端肌病基因座。
