Mitochondrial diseases are one of the most common groups of neurogenetic disease, with an estimated prevalence of 1 in 4300.1 There have been many syndromic presentations of mitochondrial disease described over the last few decades, such as chronic progressive external ophthalmoplegia, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and neurogenic weakness, ataxia and retinitis pigmentosa (NARP).2 Despite their high prevalence and the seemingly classic clinical syndromes, diagnosing mitochondrial diseases is still challenging due to their variable clinical manifestations. Moreover, the clinical phenotype evolves with time; patients could develop additional neurological signs and symptoms or other organ involvement in addition to the presenting clinical syndromes. Most adult patients present to general neurology clinics with slowly progressive neurological symptoms, such as chronic progressive external ophthalmoplegia, myopathy, neuropathy and ataxia. However, neurologists need to be aware that the acute presentations of mitochondrial disease, such as stroke-like episodes and refractory focal-onset seizures,3 …

中文翻译：

---

何时考虑线粒体疾病

线粒体疾病是最常见的神经遗传疾病之一，估计患病率为 4300 分之一。1 在过去的几十年中，线粒体疾病有许多症状表现，例如慢性进行性外眼肌麻痹、Leigh 综合征、线粒体脑肌病、乳酸性酸中毒和中风样发作 (MELAS) 以及神经源性虚弱、共济失调和色素性视网膜炎 (NARP)。2 尽管线粒体疾病的患病率高且临床症状看似经典，但由于其多变的临床表现，诊断线粒体疾病仍然具有挑战性。此外，临床表型随时间演变；除了呈现的临床症状外，患者还可能出现其他神经系统体征和症状或其他器官受累。大多数成年患者就诊时出现缓慢进展的神经系统症状，例如慢性进行性外眼肌麻痹、肌病、神经病和共济失调。然而，神经科医生需要意识到线粒体疾病的急性表现，例如中风样发作和难治性局灶性癫痫发作，3 …