Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO)

感觉性共济失调性神经病-构音障碍-眼肌麻痹(来自ICD-11)

别称:

Sando

Mitochondrial Recessive Ataxia Syndrome

Recessive Mitochondrial Ataxia Syndrome

Progressive Myoclonic Epilepsy Type 5

Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

Spinocerebellar Ataxia with Epilepsy

Miras

Epm5

Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive

Autosomal Recessive Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions

Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive

Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy

Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis

Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

Progressive Myoclonus Epilepsy Type 5

Epilepsy, Progressive Myoclonic, 5

Epilepsy, Progressive Myoclonic 5

Ataxia Neuropathy Spectrum

Pme Type 5

Mscae

Scae

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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

感觉性共济失调性神经病变、运动障碍和眼肌麻痹，也称为桑多，与肌阵挛性癫痫、肌病、感觉性共济失调和眼睑下垂有关，其症状包括眼肌麻痹。与感觉性共济失调性神经病变、运动障碍和眼肌麻痹有关的重要基因是POLG（DNA聚合酶γ，催化亚基），其相关通路/超级通路包括初级卵巢功能不全和线粒体生物发生转录激活。相关组织包括骨骼肌和脊髓，相关表型为癫痫和眼睑下垂。

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