Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 (HMNR1)

常染色体隐性远端型运动神经病1型(来自ICD-11)

别称:

Spinal Muscular Atrophy with Respiratory Distress 1

Smard1

Severe Infantile Axonal Neuropathy with Respiratory Failure

Hmn Vi

Sianrf

Dsma1

Dhmn6

Hmn6

Neuronopathy, Severe Infantile Axonal, with Respiratory Failure

Severe Infantile Axonal Neuronopathy with Respiratory Failure

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 1

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Neuronopathy, Distal Hereditary Motor, Harding Type Vi

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Distal Hereditary Motor Neuropathy Type Vi

Atrophy, Muscular, Spinal, Distal, Type 1

Neuronopathy, Distal Hereditary Motor, 6

Spinal Muscular Atrophy, Diaphragmatic

Diaphragmatic Spinal Muscular Atrophy

Dhmn Vi

Hmnr1

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

神经病，远端遗传性运动，常染色体隐性1型，也称为脊髓性肌萎缩合并呼吸困难1型，与远端脊髓性肌萎缩1型和Charcot-Marie-Tooth病，轴突型2e有关，症状包括便秘和吸气性喉喘鸣。与神经病，远端遗传性运动，常染色体隐性1型相关的基因是IGHMBP2（免疫球蛋白μDNA结合蛋白2）。相关组织包括神经管、脊髓和骨骼肌，相关表型为新生儿肌张力低下和膈肌膨出。

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