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Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Genes - 30 Sept 2024

Nishio Hisahide, Niba Emma Tabe Eko, Saito Toshio, Okamoto Kentaro, Lee Tomoko, Takeshima Yasuhiro, Awano Hiroyuki, Lai Poh-San

Abstract excerpt

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...

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Identifiers

PMID: 39457418
DOI: 10.3390/genes15101294
PMCID: PMC11506990

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