远端型遗传性运动神经元病(dHMN)是少见的遗传性周围神经病,特征是由于脊髓前角运动神经元退行性变引起对称性的肌无力和肌萎缩。dHMN是遗传性异质性疾病,呈常染色体显性遗传(AD),也可呈常染色体隐性遗传(AR)或X连锁隐性遗传(XR)。dHMN的疾病基因已定位9型,其中5型已被克隆。 Distal hereditary motor neuron disease (dHMN) is a rare inherited peripheral neuropathy characterized by symmetrical myotonic and muscular atrophy due to the degenerative changes of motor neurons in the anterior horn of the spinal cord. dHMN is a hereditary heterogeneous disease with autosomal dominant (AD) or autosomal recessive (AR) or X-linked recessive inheritance (XR). The disease genes of dHMN have been mapped to type 9, of which type 5 has been cloned.