Mitochondrial Disorders | National Institute of Neurological …
2024年7月19日 · Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) typically begins before age 20 and is characterized by PEO, ptosis, limb weakness, and digestive problems, including vomiting, chronic diarrhea, and abdominal pain.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke …
2001年2月27日 · Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Explore symptoms, inheritance, genetics of …
Melas Syndrome - StatPearls - NCBI Bookshelf
2024年1月25日 · Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare maternally inherited mitochondrial disorder that predominantly affects the nervous system and muscles. MELAS typically appears in childhood after a period of normal early development.
中国线粒体脑肌病伴高乳酸血症和卒中样发作的诊治专家共识 - 中 …
线粒体脑肌病伴高乳酸血症和卒中样发作（mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes，MELAS）是一种由线粒体DNA（mitochondrial DNA，mtDNA）或核DNA（nuclear DNA，nDNA）突变导致的多系统代谢性疾病 [1,2] ，以卒中样发作、癫痫发作、认知与精神障碍、高 ...
线粒体脑肌病伴乳酸血症和卒中样发作 - 知乎 - 知乎专栏
线粒体脑肌病伴乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes，MELAS)是最常见的线粒体病之一。 该病具有母系遗传、多系统受累的特点[1]。
线粒体脑肌病 - 百度百科
线粒体 脑肌病（ME）是一组少见的线粒体结构和（或）功能异常所导致的以脑和肌肉受累为主的多系统疾病。 其肌肉损害主要表现为 骨骼肌 极度不能耐受疲劳， 神经系统 主要表现有眼外肌麻痹、 卒中 、 癫痫 反复发作、 肌阵挛 、 偏头痛 、 共济失调 、 智能障碍 以及 视神经病变 等，其他系统表现可有 心脏传导阻滞 、 心肌病 、 糖尿病 、 肾功能不全 、 假性肠梗阻 和 身材矮小 等。 2018年5月11日，国家卫生健康委员会等5部门联合制定了《第一批罕见病 目录》，线粒体脑 …
线粒体神经胃肠型脑肌病 - 百度百科
线粒体神经胃肠型脑肌病 ( Mitochondrial Neurogastrointestinal Encephalopathy Disease，MNGIE) 是一种特殊类型的线粒体肌病，又被称为“多发性神经病伴眼肌麻痹、白质脑病、假性肠梗阻 ( POLIP) ”，“眼部及胃肠肌营养不良 ( OGIMD) ”，“线粒体脑肌病伴多发周围神经病、眼肌麻痹和假性肠梗阻 ( MEPOP) ”。 MNGIE是最常见的缩写名称。 主要临床表现为胃肠道动力障碍、眼肌麻痹、 周围神经病，头部MRI表现为广泛的白质脑病，肌肉活检示 线粒体肌病 的 …
Encephalomyopathy - an overview | ScienceDirect Topics
Numerous mitochondrial mutations affecting various protein coding, tRNA or rRNA genes result in various forms of mitochondrial diseases collectively referred to as encephalomyopathies or cardiomyopathies (See Table 1).
Encephalomyopathy - an overview | ScienceDirect Topics
LS (subacute necrotizing encephalomyopathy) has an average age of onset of about 1.5 years, with a mean duration of illness until death of about 5 years. Clinical manifestations include ataxia, hypotonia, spasticity, developmental delay and regression, optic atrophy, nystagmus, respiratory abnormalities, and ophthalmoplegia.
Mitochondrial encephalomyopathy (Concept Id: C0162666)
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course.
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