Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan.
Laboratory of Molecular and Biochemical Research, Biomedical Research Core Facilities, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Genes (Basel). 2024 Sep 30;15(10):1294. doi: 10.3390/genes15101294.
Spinal muscular atrophy (SMA) is a genetic disease characterized by loss of motor neurons in the spinal cord and lower brainstem. The term "SMA" usually refers to the most common form, 5q-SMA, which is caused by biallelic mutations in (located on chromosome 5q13). However, long before the discovery of , it was known that other forms of SMA existed. Therefore, SMA is currently divided into two groups: 5q-SMA and non-5q-SMA. This is a simple and practical classification, and therapeutic drugs have only been developed for 5q-SMA (nusinersen, onasemnogene abeparvovec, risdiplam) and not for non-5q-SMA disease.
We conducted a non-systematic critical review to identify the characteristics of each SMA disease.
Many of the non-5q-SMA diseases have similar symptoms, making DNA analysis of patients essential for accurate diagnosis. Currently, genetic analysis technology using next-generation sequencers is rapidly advancing, opening up the possibility of elucidating the pathology and treating non-5q-SMA.
Based on accurate diagnosis and a deeper understanding of the pathology of each disease, treatments for non-5q-SMA diseases may be developed in the near future.
脊髓性肌萎缩症（SMA）是一种遗传性疾病，其特征是脊髓和下脑干中的运动神经元丧失。“SMA”一词通常是指最常见的 5q-SMA 形式，它是由位于 5q13 染色体上的 （SMN1 基因）的双等位基因突变引起的。然而，早在 发现之前，就已经知道存在其他形式的 SMA。因此，SMA 目前分为两组：5q-SMA 和非 5q-SMA。这是一种简单实用的分类，只有针对 5q-SMA（nusinersen、onasemnogene abeparvovec、risdiplam）的治疗药物被开发出来，而非 5q-SMA 疾病则没有。
我们进行了非系统性的批判性回顾，以确定每种 SMA 疾病的特征。
许多非 5q-SMA 疾病具有相似的症状，因此对患者进行 DNA 分析对于准确诊断至关重要。目前，使用下一代测序仪的基因分析技术正在迅速发展，为阐明非 5q-SMA 的病理学和治疗方法开辟了可能性。
基于准确的诊断和对每种疾病病理学的更深入了解，非 5q-SMA 疾病的治疗方法可能在不久的将来得到开发。
