PDF(Pubmed)
Abstract：
Spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (PME) affects the nervous system. Symptoms appear in early childhood and include muscle weakness, difficulty walking, seizures, and cognitive decline. Despite introducing various therapies to restore acid ceramidase function or reduce ceramide accumulation and gene therapy to correct genetic mutations, there are still unknown underlying molecular mechanisms related to this disorder. This article reports a novel variant c.118G>C in the ASAH1 gene. The patient presented with clinical manifestations such as progressive muscle weakness and myoclonic convulsions. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epileptic discharge. A significant temporal interval was observed between the initial diagnosis of SMA and the subsequent manifestation of myoclonic seizures. The proband was genetically assessed through whole exome sequencing (WES) followed by variant confirmation and bioinformatics analysis. According to this article\'s findings and previous research, further diagnostic testing and management are needed to determine the severity and progression of the patient\'s condition.
摘要：
脊髓性肌萎缩症（SMA）伴进行性肌阵挛性癫痫（PME）影响神经系统。症状出现在儿童早期，包括肌肉无力，行走困难,癫痫发作,和认知能力下降。尽管引入了各种疗法来恢复酸性神经酰胺酶功能或减少神经酰胺积累和基因治疗来纠正基因突变，与这种疾病相关的潜在分子机制仍然未知。本文报道了ASAH1基因中一个新的变异体c.118G>C。患者出现进行性肌无力和肌阵挛性惊厥等临床表现。临床特征和电生理检查显示运动神经元疾病和全身性癫痫放电。在SMA的初始诊断与随后的肌阵挛性癫痫发作表现之间观察到明显的时间间隔。先证者通过全外显子组测序（WES）进行遗传评估，然后进行变体确认和生物信息学分析。根据本文的研究结果和前人的研究,需要进一步的诊断测试和管理，以确定患者病情的严重程度和进展。
