Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases
Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases
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DOI：
10.4103/0028-3886.63804
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发表时间：
2010-03-01
期刊：
影响因子：
2.7
通讯作者：
Dawn, Rose
中科院分区：
文献类型：
--
作者：
Nalini, A.;Gayathri, N.;Dawn, Rose
背景资料：边缘空泡远端肌病（DMRV）是一种常染色体隐性遗传（AR）肌病，临床特征为胫骨前肌优先受累，主要在日本人群中报告。材料与方法：一项在印度南部一家三级国家神经系统疾病转诊中心接受为期3年的DMRV患者病例系列研究。结果如下：我们描述了23例患者的临床特征、肌肉磁共振成像（MRI）表现和典型的组织病理学特征。有12名男性和11名女性。平均发病年龄为27.04 ± 6.35岁（10-39岁）。大多数患者在第二或第三个十年发病。就诊时的平均年龄为33.95 ± 6.35岁（25-48岁）。平均病程为6.74 +/- 4.8年（1-18年）。8例（34.8%）患者报告有血缘关系。所有患者均以双侧足下垂为首发表现。肌肉MRI显示小腿前室肌和大腿后室肌的典型受累，股四头肌均正常。肌肉组织病理学显示大量含有镶边空泡的纤维。坏死纤维或吞噬作用或再生纤维很少注意到或不存在。结论：DMRV是一种罕见的AR肌病。这种疾病表现为进行性足下垂，因此有许多鉴别诊断。它很容易被误认为是遗传性神经病，因此识别优先肌肉受累和表征表型是非常重要的。这是来自印度的第一份报告，患者具有Nonaka/AR遗传性包涵体肌病的特征表型，股四头肌保留，所有病例均经组织病理学证实。
Background: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive (AR) myopathy characterized clinically by the preferential involvement of the tibialis anterior and has been reported predominantly in the Japanese population. Materials and Methods: A case series of DMRV patients seen over a period of 3 years at a tertiary national referral center for neurological disorders in south India. Results: We describe the clinical characteristics, muscle magnetic resonance imaging (MRI) findings and classical histopathological feature in 23 patients. There were 12 men and 11 women. Mean age of onset was 27.04 +/- 6.35 years (10-39 years). Onset was in the second or third decade in a majority. Mean age at presentation was 33.95 +/- 6.35 years (25-48 years). Mean duration of illness was 6.74 +/- 4.8 years (1-18 years). Consanguinity was reported in eight (34.8%) patients. The predominant and initial manifestation was bilateral foot drop in all patients. Muscle MRI demonstrated classical involvement of the anterior compartment muscles of the lower legs and the posterior compartment muscles of the thighs and the quadriceps was normal in all. Muscle histopathology showed numerous fibers containing rimmed vacuoles. Necrotic fibers or phagocytosis or regenerating fibers were rarely noted or were absent. Conclusions: DMRV is a rare AR myopathy. The disorder presents as progressive foot drop and hence has many differential diagnoses. It is easily mistaken as neuropathy of hereditary nature and hence it is extremely important to recognize the preferential muscle involvement and characterize the phenotype. This is the first report from India with patients having characteristic phenotype of Nonaka's/AR hereditary inclusion body myopathy with quadriceps sparing, and all were confirmed by histopathology.