Nonaka肌病伴面部肌肉受累

目的 报道1个伴随面部肌肉受累及的Nonaka型远端性肌肉病家系的临床和病理特点，讨论其发病机制。方法 先证者在中年早期起病。主要临床表现为胫前肌为主的四肢远端肌无力和肌萎缩，伴随有面肌和胸锁乳突肌力弱以及眼睑下垂，股四头肌不受累。肌酶轻度升高。肌电图提示肌源性损害。对患者进行胫前肌活检，进行组织学，酶组织化学和超微结构检查。家族中其妹妹也具有相同的临床表现。出现下肢远端为主的肌无力和肌萎缩。结果 肌肉病理改变特点是出现肌纤维肥大和萎缩。伴随核内移和肌纤维分裂现象。在部分肌纤维内可见镶边空泡和胞浆体。电镜下可见肌纤维内和核内的管丝包涵体以及髓样小体，其中出现在膜下的管丝包涵体具有细胞核的轮廓，可以看到细胞核变性后形成致密破碎结构。结论 结合患者的家庭史，临床表现和病理学改变特点。此患者可以考虑为Nonaka肌病，我们证实此病可以伴随面部肌肉的受累及。其发病机制可能与肌核的变性有关。

Nonaka myopathy with facial muscle involvement

Objective To report the clinical and pathological features in a chinese family with Nonaka myopathy which showed facial muscle weakness,and discuss the pathogenesis of the disease. Methods The onset of disease in the proband was in early adulthood. She complained about slowly progressive distal weakness in the lower extremities,predominantly in anterior tibial muscle. Additionally,facial muscle weakness with ptosis was noted. The Serum creatine kinase level was mildly elevated and myopathic pattern was demonstrated by the EMG. The patient's sister had similar symptoms. Muscle biopsy was performed in left anterior tibial muscle on the proband.Results The characteristic myopathological changes were appearance of rimmed vacuoles in some fibers,accompanied with muscle fiber hypertrophy and atrophy,internal nuclei and fiber splitting. Ultrastructural examination revealed numerous intranuclear and intracytoplasmic tubulofilamentous inclusions. Some intracytoplasmic filamentous inclusions mimic nuclear profile which were rounded by myelin figure. Densed fragmented nuclear material indicated nuclear degeneration. Conclusion According to family history,clinical and myopathological features,Nonaka myopathy or autosomal recessive distal myopathy with rimmed vacuole was considered. We found that facial muscle weakness with ptosis also appeared in the disease. Nuclear degeneration may play an important role in the development of Nonaka myopathy.