A non-systematic critical review highlighted that non-5q-SMA diseases share similar symptoms with 5q-SMA, making DNA analysis essential for accurate diagnosis and potential future treatments.
DNA analysis using next-generation sequencing is essential for accurate diagnosis of non-5q-SMA diseases, which may lead to future targeted treatments.
Background: 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 SMN1 (located on chromosome 5q13). However, long before the discovery of SMN1, 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. Methods: We conducted a non-systematic critical review to identify the characteristics of each SMA disease. Results: 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. Conclusion: 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.
Nishio et al. (Mon,) conducted a review in Spinal muscular atrophy (SMA). Genetic analysis for 5q- and non-5q-SMA was evaluated. A non-systematic critical review highlighted that non-5q-SMA diseases share similar symptoms with 5q-SMA, making DNA analysis essential for accurate diagnosis and potential future treatments.