Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000 Bordeaux, France; National reference center 'maladies neuromusculaires du grand sud-ouest', CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000 Bordeaux, France.
Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria; Laboratoire de Neurosciences, University of Algiers 1, Algiers, Algeria.
J Neurol Sci. 2018 Jan 15;384:50-54. doi: 10.1016/j.jns.2017.10.051. Epub 2017 Nov 2.
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders. Based on our observations and our recent proposals in other neurogenetic conditions and informal discussions with specialists of neuromuscular disorders, the prerequisite for a simple and sound classification for inherited muscular disorders should encompass the clinical and pathological phenotypes (described in a simple and clear manner), the mode of inheritance, and the mutated gene. We think that the denomination of the different subtypes could be simplified considerably, although any new proposal of classification of muscular disorders will need to be discussed in the neurological and genetic communities.
遗传性肌肉疾病的广泛谱系导致其分类不可避免地存在困难，即使是专家也不例外。因此，需要提出新的建议，最终用更简单的结构取代我们目前相当复杂的分类。我们的建议将仅限于肌营养不良症和非肌营养不良症（不包括代谢紊乱、线粒体疾病和通道病），因为类似的建议也适用于这些疾病。现在已经对各种基因（编码与肌细胞膜、核膜蛋白相关的结构蛋白和参与肌纤维代谢的蛋白）进行了测序，并将突变归因于特定形式的遗传性肌肉疾病。基于我们的观察结果和我们在其他神经遗传疾病中的最新建议，以及与神经肌肉疾病专家的非正式讨论，遗传性肌肉疾病简单合理的分类的前提应包括临床和病理表型（以简单明了的方式描述）、遗传模式和突变基因。我们认为，不同亚型的命名可以大大简化，尽管任何新的肌肉疾病分类建议都需要在神经科和遗传科进行讨论。
