Malek Naveed, Stewart William, Greene John
Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
Pract Neurol. 2015 Jun;15(3):164-71. doi: 10.1136/practneurol-2014-000994. Epub 2015 Feb 26.
Progressive myoclonic epilepsies are a group of disorders characterised by a relentlessly progressive disease course until death; treatment-resistant epilepsy is just a part of the phenotype. This umbrella term encompasses many diverse conditions, ranging from Lafora body disease to Gaucher's disease. These diseases as a group are important because of a generally poor response to antiepileptic medication, an overall poor prognosis and inheritance risks to siblings or offspring (where there is a proven genetic cause). A correct diagnosis also helps patients and their families to accept and understand the nature of their disease, even if incurable. Here, we discuss the phenotypes of these disorders and summarise the relevant specific investigations to identify the underlying cause.
进行性肌阵挛癫痫是一组以疾病进程持续进展直至死亡为特征的疾病；难治性癫痫只是其表型的一部分。这个统称涵盖了许多不同的病症，从拉福拉体病到戈谢病。作为一个群体，这些疾病很重要，因为对抗癫痫药物的反应通常较差，总体预后不良，且对兄弟姐妹或后代存在遗传风险（如果有已证实的遗传病因）。即使无法治愈，正确的诊断也有助于患者及其家人接受并理解疾病的本质。在此，我们讨论这些疾病的表型，并总结相关的特定检查以确定潜在病因。
