Presentation (CTI)

OBJECTIVES: Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease that has become a priority for healthcare policymakers in Türkiye owing to the country’s relatively high rate of consanguineous marriages and the strong advocacy of patient organizations. This scoping review aims to provide a comprehensive overview of SMA in Türkiye by examining its epidemiology, patient demographics and clinical characteristics, diagnostic approaches, treatment strategies, and the findings of clinical studies conducted within the country.
METHODS: The review covered the period from 01.01.2000 to 31.12.2025. PubMed, Science Direct, and Google Scholar were searched with the selected keywords. To ensure comprehensive coverage of Turkish language publications, Turkish databases including TRDizin, Dergipark and Turkmedline were also searched.
RESULTS: A total of 2,376 publications were identified during the initial research. After removing 1,655 duplicate records, 721 publications remained for screening. Following assessment against the predefined inclusion and exclusion criteria, 659 non-relevant publications were excluded. Nine articles were not accessible. Ultimately, 53 articles were included in the review. Among the selected studies, SMA type 1 was more commonly observed in girls, accounting for 50-64% of cases, and mean age at disease onset ranged from 2 to 6 months. More than 60% of the parents of patients with SMA type 1 were reported to be in consanguineous marriages. In Türkiye, the Social Security Institution currently reimburses nusinersen and risdiplam for treatment of SMA. Nusinersen was reimbursed for many years through the named patient program and was added to the positive list in 2023. The reviewed clinical studies primarily focused on nusinersen and generally reported positive effect on patients’ motor function outcomes.
CONCLUSIONS: The substantial economic burden of disease management, combined with relatively high prevalence of consanguineous marriages in Türkiye -particularly in certain regions- has made SMA an important public health concern for the country.