腓骨肌萎缩症(CMT)亦称为遗传性运动感觉神经病(HMSN),具有明显的遗传异质性,临床表现为四肢远端进行性的肌无力和萎缩伴感觉障碍。主要特征是发病年龄早,常在儿童期起病,神经传导速度减慢,周围神经有髓纤维髓鞘脱失或减少。随着分子遗传学的进展,发现多个疾病基因位点。此病在呼吸系统的表现较少,如累及呼吸肌诊断困难,易误诊。 Charcot-Marie-Tooth Disease (CMT), also known as hereditary motor-sensory neuropathy (HMSN), has significant genetic heterogeneity and is characterized by progressive myasthenia and atrophy with sensory disturbances distal to the extremities. The main feature is the onset of early age, often onset in childhood, nerve conduction velocity slowed, peripheral nerve myelinated fiber loss or loss of myelination. With the progress of molecular genetics, multiple disease gene loci were found. The disease in the respiratory system less performance, such as the diagnosis of respiratory muscle involvement difficulties, easily misdiagnosed.