母系遗传性糖尿病和耳聋伴有记忆障碍和步态失调

Journal of the Korean Neurological Association Pub Date : 2024-02-01 DOI:10.17340/jkna.2023.0067

Jung Seok Lee

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摘要

母系遗传性糖尿病和耳聋（MIDD）是由线粒体 DNA 的点突变引起的一种疾病，其特征是在幼年时就出现糖尿病和听力障碍。MIDD 可伴有各种神经系统症状。在该患者中，记忆障碍和共济失调是主要的神经系统症状。在此，我们报告了 m.3243A>G 突变的 MIDD 患者，他们在 59 岁时出现认知能力下降和步态障碍。

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Maternally Inherited Diabetes and Deafness Presenting with Memory Impairment and Gait Disturbance

Maternally inherited diabetes and deafness (MIDD) is a disorder characterized by the occurrence of diabetes mellitus and hearing impairment at a young age, caused by point mutations in mitochondrial DNA. MIDD can be accompanied by various neurological symptoms. In this patient, memory impairment and ataxia were the predominant neurological symptoms. Herein, we report MIDD patients with the m.3243A>G mutation who present with cognitive decline and gait disturbance at the age of 59.

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Journal of the Korean Neurological Association

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