Oliveira Santos Miguel, Gromicho Marta, Pronto-Laborinho Ana, de Carvalho Mamede
Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-028 Lisbon, Portugal.
Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1648-028 Lisbon, Portugal.
Brain Sci. 2023 Jan 28;13(2):220. doi: 10.3390/brainsci13020220.
Amyotrophic lateral sclerosis (ALS) and myopathy have been already described as part of a common genetic syndrome called multisystem proteinopathy. They may occur together or not, and can be associated with other clinical features such as frontotemporal dementia and Paget's bone disease. In addition, primary skeletal muscle involvement has been also reported in inherited forms of lower motor neuron disease, in spinal-bulbar muscular atrophy and in spinal muscular atrophy. We aim to characterize three sporadic, spinal-onset ALS patients, one with a concurrent non-specific myopathy, and two with a previous diagnosis of myopathy before upper and lower motor neuron signs emerged. Perhaps our sporadic ALS cases associated with myopathy share a common, but still unknown, pathogenic background. These cases raise the paradigm of a possible interplay between skeletal muscle degeneration and motor neuron damage.
肌萎缩侧索硬化症（ALS）和肌病已被描述为一种称为多系统蛋白病的常见遗传综合征的一部分。它们可能同时出现，也可能不出现，并且可能与其他临床特征相关，如额颞叶痴呆和佩吉特骨病。此外，在遗传性下运动神经元疾病、脊髓延髓性肌萎缩症和脊髓性肌萎缩症中也有原发性骨骼肌受累的报道。我们旨在对三名散发性、脊髓起病的ALS患者进行特征描述，其中一名同时患有非特异性肌病，另外两名在上下运动神经元体征出现之前曾被诊断患有肌病。也许我们与肌病相关的散发性ALS病例有一个共同的、但仍未知的致病背景。这些病例引发了骨骼肌变性与运动神经元损伤之间可能存在相互作用的范例。
