Pharmacological and respiratory treatment in three patients with Spinal Muscular Atrophy type 1

Abstract

Spinal muscular atrophy type 1 (SMA 1) is a progressive neuromuscular disease with high morbidity and mortality, especially due to respiratory and nutritional complications.

Objective: To present 3 patients who managed to diverge from the natural history described for this disease due to the implementation of standards of care and disease-modifying therapies.

Clinical Case: We report three female patients with SMA 1 from the Fundación Hospital Pediátrico la Misericordia (HOMI), Colombia, with diagnosis and treatment before 6 months of age. Two of them managed to overcome respiratory failure and all 3 have been maintained without invasive respiratory support and with oral feeding, without gastrostomy.

Conclusions: Pediatric patients with SMA 1 have a serious disease that leads to respiratory failure and a high probability of early death. The implementation of multidisciplinary management strategies allows for preserving respiratory function, initiating specific disease-modifying therapies, improving their survival, and decreasing associated morbidity.