Spinal and Bulbar Muscular Atrophy, X-Linked 1 (SMAX1)

X-连锁脊髓延髓肌萎缩症(来自ICD-11)

别称:

Kennedy Disease

Sbma

Spinal and Bulbar Muscular Atrophy

Kennedy's Disease

X-Linked Spinal and Bulbar Muscular Atrophy

Smax1

Kennedy Spinal and Bulbar Muscular Atrophy

Spinal and Bulbar Muscular Atrophy of Kennedy

Bulbospinal Neuronopathy, X-Linked Recessive

Bulbospinal Muscular Atrophy, X-Linked

X-Linked Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinobulbar Muscular Atrophy

X-Linked Bsma

Xbsn

Atrophy, Muscular, Spinal and Bulbar, Kennedy Type

Spinal and Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Neuronopathy X-Linked Recessive

X-Linked Spinal Bulbar Muscular Atrophy

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Amyotrophy, X-Linked

Spinal Bulbar Muscular Atrophy

Atrophy, Muscular, Spinobulbar

X-Linked Bulbo-Spinal Atrophy

Bulbospinal Neuronopathy

Kennedy Syndrome

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊髓和延髓肌萎缩症，X连锁1型，也被称为肯尼迪病，与肌肉萎缩和运动神经元疾病有关，症状包括肌肉抽搐、肌肉痉挛和震颤。与脊髓和延髓肌萎缩症，X连锁1型有关的重要基因是AR（雄激素受体），其相关通路/超级通路包括巨噬细胞中的CCR5通路和神经科学。在该疾病的背景下，已提到的药物有戈舍瑞林和睾酮。附属组织包括脊髓和舌，相关表型为言语障碍和步态障碍。

查看原文参与反馈