Clinical Characteristics and Management of Adult Patients with Spinal Muscular Atrophy: Experience in a Ventilation Unit

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Introduction: Spinal muscular atrophy (SMA) is a rare neurodegenerative genetic disease causing proximal muscle weakness, in advanced stages, respiratory failure. Historically, SMA had high mortality in childhood. However, new pharmacological treatments, scoliosis surgery and the use of non-invasive mechanical ventilation (NIMV) have improved survival, allowing more patients to reach adulthood. Nevertheless, their clinical course and management remain poorly understood. Aim: To analyze adult SMA patients under follow-up in the ventilation unit of a tertiary hospital. Material and methods: A descriptive cross-sectional study was conducted in November 2024 on adults with SMA followed in the multidisciplinary neuromuscular disease unit at “Hospital Universitari de Bellvitge” Demographic and clinical variables were collected, the differences between patients were analyzed based on if they were using NIMV. Results: 47 patients were included, 17 (36%) using NIMV. These patients were more frequently diagnosed with SMA type 2, had a higher frequency of scoliosis surgery, lower pulmonary function and greater need for cough assistance. No differences were found in blood gas variables, nocturnal oximetry or respiratory exacerbations. The mean age at NIMV initiation was 15 years, primarily due to severe respiratory infections. Conclusions: Despite SMA being rare in adults, this study includes a substantial sample. Patients requiring NIMV present a more severe phenotype, however, once initiated NIMV proves to be an effective intervention. The typical age of NIMV initiation is during childhood. Advances in treatment will likely increase this population in adults home ventilation units.

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