Spinal muscular atrophy type 2 treated with risdiplam at the Instituto Nacional de Salud del Niño-San Borja: a case report

• Autores: Martínez-Esteban, Peggy Carol, Morales Brañes, Richard Christian, Florez Zamora, Juan Victor, Cornejo Gallegos, Cinthya Tatiana
• Formato: artículo
• Fecha de Publicación: 2024
• Institución: Instituto Nacional de Salud del Niño San Borja
• Repositorio: INSNS - Revistas
• Lenguaje: español
• OAI Identifier: oai:ojs.pkp.sfu.ca:article/103
• Enlace del recurso: https://investigacionpediatrica.insnsb.gob.pe/index.php/iicqp/article/view/103
• Nivel de acceso: acceso abierto
• Materia: Atrofia Muscular Espinal; Pediatría; Muscular Atrophy, Spinal; Pediatrics

Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disease characterized by progressive muscle weakness, hypotonia, and symmetrical muscle atrophy. In Peru, the treatment of SMA primarily involves the use of the drugs risdiplam and nusinersen. We present the case of a seven-year-old boy with SMA type 2 treated with risdiplam. The patient was referred to the cardiology department of a national pediatric referral center in Lima, Peru. The patient exhibited quadriparesis, hypotonia, preserved osteotendinous reflexes, intact sensory function, and the ability to stand with support. Risdiplam treatment was initiated under compassionate use. The response to treatment was favorable, with improvements in motor function scale scores and noticeable clinical enhancements in movement quality and speed. Follow-up radiographs revealed mild dorsal scoliosis (10° Cobb angle), while pulmonary function was preserved (FVC = 85 %). Despite its efficacy, access to risdiplam remains challenging for SMA patients due to its high cost, highlighting the importance of sharing this case with the scientific community.