脊髓性肌萎缩症与进行性肌阵挛性癫痫：一种罕见的关联。
Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association.
作者信息
Radhakrishnan Divya M, Shree Ritu, Madhaw Govind, Manchanda Rajat, Mahadevan Anita, Kumar Niraj
机构信息
Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
出版信息
J Neurosci Rural Pract. 2021 Jan;12(1):210-212. doi: 10.1055/s-0040-1721543. Epub 2021 Jan 29.
The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as "SMA plus," is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.
脊髓性肌萎缩症（SMA）与进行性肌阵挛癫痫的关联，也被称为“SMA加”，是一种与非存活运动神经元（non-SMN）基因相关的独特综合征。该疾病始于儿童期，伴有肌肉进行性无力和萎缩；肌阵挛癫痫在运动症状出现后的儿童后期发展。在本报告中，我们描述了一例由电生理和神经病理学证据支持的与SMN基因无关的SMA和肌阵挛癫痫病例。
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