Spastic Paraplegia 20, Autosomal Recessive (SPG20)

常染色体隐性痉挛性截瘫20型(来自ICD-11)

别称:

Troyer Syndrome

Spg20

Autosomal Recessive Hereditary Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia Type 20

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting

Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting

Autosomal Recessive Spastic Paraplegia Troyer Type

Spastic Paraplegia Autosomal Recessive Troyer Type

Spastic Paraplegia Hereditary Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 20

Hereditary Spastic Paraplegia 20

Spastic Paraplegia, Hereditary

Hereditary Spastic Paraplegia

Spastic Paraplegia Type 20

Cross-Mckusick Syndrome

Spastic Paraplegia 20

Trs

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

脊髓性肌萎缩症20，常染色体隐性，也被称为特洛伊综合征，与脊髓性肌萎缩症7，常染色体隐性和脊髓性肌萎缩症63，常染色体隐性有关，症状包括腿部抽筋、下肢疼痛和小脑体征。与脊髓性肌萎缩症20，常染色体隐性有关的重要基因是SPART（Spartin）。在该疾病的背景下，已提到的药物包括乙酰胆碱和胆碱能药物。相关组织包括脊髓和大脑，相关表型为痉挛和高反射。

查看原文参与反馈