进行性肌无力

[背景与目的]腓骨肌萎缩症（Charcot-Marie-Tooth，CMT）亦称为遗传性运动感觉神经病，具有明显的遗传异质性，临床主要特征是四肢远端进行性的肌无力、肌萎缩以及感觉障碍。

[ Background and objective ] Charcot-Marie-Tooth ( CMT ) disease , also known as hereditary motor and sensory neuropathies ( HMSN ), is genetically heterogeneous and characterized by slowly progressive distal muscle wasting and weakness with sensory loss .

结论1.晚发型Pompe病临床主要表现为慢性进行性的骨骼肌无力，多为对称性，下肢重于上肢，近端重于远端。

Late-onset Pompe patients mainly presented with chronic progressive skeletal muscle weakness , always in a symmetric pattern , lower extremities worse than upper extremities , proximal muscles worse than distal muscles .

临床特点为进行性四肢远端肌无力、肌萎缩，末梢型感觉障碍，腱反射减弱或消失，足部畸形（高弓足）。

The clinical features were slowly progressive distal muscle weakness , atrophy and end-brush form sensory decrement , diminished or absent tendon reflexes , foot deformity ( pes cavus ) .