Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant (SMALED1)

下肢受累的常染色体显性脊髓性肌萎缩1型(来自ICD-11)

别称:

Smaled1

Dync1h1-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Without Contractures

Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atro

Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 1

Autosomal Dominant Childhood Proximal Spinal Muscular Atrophy

Autosomal Dominant Juvenile Proximal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad

Kugelberg-Welander Syndrome, Autosomal Dominant

Autosomal Dominant Kugelberg-Welander Syndrome

Sma-Led

Smaled

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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

脊髓性肌萎缩症，下肢为主型1，常染色体显性，也称为smaled1，与脊髓性肌萎缩症，下肢为主型2a，儿童期发病，常染色体显性，以及脊髓性肌萎缩症，下肢为主型2b，妊娠期发病，常染色体显性有关，症状包括鸭步。与脊髓性肌萎缩症，下肢为主型1，常染色体显性相关的重要的基因是DYNC1H1（动力蛋白胞质1重链1）。相关组织包括脊髓和大脑，相关表型是全球发育延迟和鸭步。

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