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首页> 外文期刊>Orphanet journal of rare diseases >The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study
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The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

机译：改良的阿特金斯饮食对北海进行性肌阵挛性癫痫的疗效：一项观察性前瞻性研究

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BackgroundNorth Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy. ResultsFour North Sea Progressive Myoclonus Epilepsy patients (aged 7–20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures.Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients. ConclusionsThis observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.
机译：背景北海进行性肌阵挛性癫痫是一种罕见且严重的疾病，由GOSR2基因突变引起。其临床特征是进行性肌阵挛，癫痫发作，早期发作的共济失调和反射障碍。与其他进行性肌阵挛癫痫一样，抗癫痫药的疗效在北海进行性肌阵挛癫痫中令人失望地受到限制。生酮饮食和限制性较低的改良阿特金斯饮食已被证明对其他耐药性癫痫综合征（包括肌阵挛性癫痫综合征）有效。我们的目的是评估改良的阿特金斯饮食对北海进行性肌阵挛性癫痫患者的疗效。结果4名北海进行性肌阵挛性癫痫患者（年龄7至20岁）参加了一项关于改良Atkins饮食疗效的观察性，前瞻性，开放标签研究。在基线时以及参与者饮食三个月后再次评估了几个临床参数。主要结局指标是与健康相关的生活质量，以癫痫发作频率和盲目性肌阵挛严重程度为次要结局指标。在2周内出现酮症，所有患者均在改良的Atkins饮食下完成了3个月。四名患者对饮食的耐受性良好。尽管该病具有渐进性，但一名患者的与健康相关的生活质量得到了显着改善，并且在长期随访中显示出持续的改善。其他三名患者的健康相关生活质量大致保持不变，他们没有继续饮食。癫痫发作频率保持稳定，肌阵挛的盲目评分在所有患者中均得到改善，尽管程度适中。结论这项观察性，前瞻性研究表明，某些北海进行性肌阵挛性癫痫患者可以从改良的阿特金斯饮食中受益，并持续改善与健康相关的生活质量。并非我们所有的患者都继续饮食，但尽管如此，我们证明，改良的阿特金斯饮食可能被认为是这种破坏性疾病的一种可能的治疗方法。

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