Kälviäinen Reetta
Kuopio Epilepsy Center/Neurocenter, Kuopio University Hospital, Kuopio, Finland.
Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10.
The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis of a PME depends on the specific disease. Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course. In contrast, Unverricht-Lundborg disease has a much slower progression, and with adequate care many patients have a normal life span. The specific diseases that cause PME are diagnosed by recognition of their age of onset, the associated clinical symptoms, the clinical course, the pattern of inheritance, and by special investigations such as enzyme measurement, skin/muscle biopsy, or gene testing.
进行性肌阵挛癫痫（PMEs）是一组罕见的异质性疾病，其定义为动作性肌阵挛、癫痫发作和进行性神经功能恶化同时存在。神经功能恶化可能包括进行性认知衰退、共济失调、神经病变和肌病。已确定了最常见类型的PME（翁韦里希特-伦德伯格病、拉福拉病、几种神经元蜡样脂褐质沉积症、伴有破碎红纤维的肌阵挛癫痫[MERRF]以及1型和2型唾液酸沉积症）的基因缺陷。PME的预后取决于具体疾病。拉福拉病、神经元蜡样脂褐质沉积症以及戈谢病的神经病变型都有不可避免的致命病程。相比之下，翁韦里希特-伦德伯格病进展要慢得多，在得到充分护理的情况下，许多患者能正常寿命。导致PME的具体疾病通过识别其发病年龄、相关临床症状、临床病程、遗传模式以及通过特殊检查如酶测定、皮肤/肌肉活检或基因检测来诊断。
