Age at diagnosis of spinal muscular atrophy in Peru, 2024

Martínez-Esteban P.C.; Jara-Velásquez C.; Sotelo-Muñoz M. · Horizonte Medico (2025) · DOI: 10.24265/horizmed.2025.v25n4.02

Resumen

Objective: To determine the age at genetic diagnosis and the interval between symptom onset and diagnostic confirmation, as well as to identify the factors influencing this diagnostic process in the Peruvian context. Materials and methods: A cross-sectional study was conducted in patients with a confirmed diagnosis of spinal muscular atrophy (SMA). Data were collected through surveys administered to patients or caregivers at a pediatric tertiary care center, and through a SMA patient association between October and December 2024. Results: Fifty-one patients (56.86 % female) with a confirmed genetic diagnosis of SMA, aged between 10 months and 75 years, were included. Of these, 92.16 % were younger than 18 years, and 47.06 % came from regions outside Lima Metropolitan Area. The distribution by SMA type was 21.57 % for type I, 37.25 % for type II, and 41.18 % for type III. The median age at definitive diagnosis was six months (range: 4-12) for SMA type I, 23 months (range: 9-139) for SMA type II, and 60 months (range: 31-906) for SMA type III. The interval between the first medical consultation and definitive diagnosis was four months (range: 1-9) for type I, 12 months (range: 3-127) for type II, and 36 months (range: 15-714) for type III. In most cases, the symptoms were first recognized by the parents; however, only 5.88 % of patients were referred for genetic testing at the first visit. The initial response of the health professionals was referral to a specialist in 41.18 % of cases, observation and follow-up in 29.41 %, and dismissal of symptoms in 15.69 %. A total of 74.51 % of patients were diagnosed within the public health system, and only 15.69 % received disease-specific treatment. Conclusions: This study revealed a delay in the age at diagnosis of SMA in Peru, particularly in cases of type III SMA.