Mitochondrial Dna Depletion Syndrome 7 (MTDPS7)

线粒体DNA耗竭综合征7型(来自ICD-11)

别称:

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Spinocerebellar Ataxia 8

Mtdps7

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis

Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis

Spinocerebellar Ataxia Infantile with Sensory Neuropathy

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome , Type 7

Iosca, Mitochondrial Dna Depletion Syndrome 7

Pure Spinocerebellar Ataxia Japanese Type

Spinocerebellar Ataxia, Infantile-Onset

Spinocerebellar Ataxia Infantile-Onset

Spinocerebellar Ataxia 8, Formerly

Sca4 Pure Japanese Type

Sca8, Formerly

Sca8

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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

线粒体DNA耗竭综合症7，也被称为Ohaha综合症，与脊髓小脑共济失调8型和帕金森病有关，症状包括肌肉痉挛、震颤和异常锥体征。与线粒体DNA耗竭综合症7有关的重要基因是TWNK（Twinkle MtDNA Helicase），其相关通路/超级通路包括原发性卵巢功能不全和Valproic Acid通路，药理学。附属组织包括肝脏和脊髓，相关表型为共济失调和听力障碍。

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