散发性迟发性杆状体肌病是年轻成人起病的缓慢进行性肌肉无力的罕见病因。
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset.
作者信息
Maeda Meiko Hashimoto, Ohta Hikari, Izutsu Koji, Shimizu Jun, Uesaka Yoshikazu
机构信息
Department of Neurology, Federation of National Public Service Personnel Mutual Aid Associations Toranomon Hospital, Tokyo, Japan; Department of Neurology, University of Tokyo, Graduate School of Medicine, Tokyo, Japan; Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
出版信息
Muscle Nerve. 2015 May;51(5):772-4. doi: 10.1002/mus.24509. Epub 2015 Jan 16.
INTRODUCTION
Sporadic late-onset nemaline myopathy (SLONM) is a rare intractable acquired myopathy characterized by progressive muscle weakness and atrophy, usually with middle to late adult onset. Autologous peripheral blood stem cell transplantation (auto-PBSCT) has been reported to be a promising treatment for SLONM.
METHODS
In this study we performed clinical characterization, muscle histopathological analysis, and muscle power monitoring after auto-PBSCT in a 27-year-old HIV-negative man with monoclonal gammopathy.
RESULTS
He showed improved muscle strength after treatment with high-dose melphalan and auto-PBSCT.
CONCLUSIONS
Considering the recent reports of successful treatment of SLONM, early and correct diagnosis of this condition in association with monoclonal gammopathy is important. SLONM should be added to the list of diseases to consider in the differential diagnosis of progressive muscle weakness with young adult onset.
引言
散发性迟发性杆状体肌病（SLONM）是一种罕见的难治性获得性肌病，其特征为进行性肌肉无力和萎缩，通常在成年中期至晚期发病。据报道，自体外周血干细胞移植（auto-PBSCT）是治疗SLONM的一种有前景的方法。
方法
在本研究中，我们对一名患有单克隆丙种球蛋白病的27岁HIV阴性男性进行了自体外周血干细胞移植后的临床特征分析、肌肉组织病理学分析和肌肉力量监测。
结果
他在接受大剂量美法仑和自体外周血干细胞移植治疗后，肌肉力量有所改善。
结论
鉴于近期关于成功治疗SLONM的报道，早期正确诊断这种与单克隆丙种球蛋白病相关的疾病很重要。在对成年早期进行性肌肉无力的鉴别诊断中，应将SLONM列入需考虑的疾病清单。
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