PP09.2 – 2584: Spinal muscular atrophy: Review of clinical characteristics and treatment in the last 25 years

Abstract

Objective Spinal muscular atrophy (SMA) include a group of disorders that produce disabilities in all patients. Our aim is to review the epidemiological and clinical characteristics, genetic distribution and to analyze the care and development of the SMA in our area. Methods Retrospective descriptive study of patients diagnosed in our hospital during the past 25 years (1987–2013), with clinical and neurophysiological diagnosis of SMA. Results 37 patients were found, representing an incidence of 1 case per 10,000 live births in our reference population. The male/female ratio was 1.6/1. The type of SMA diagnosed more frequently was type I (26 cases), followed by type II with 9 cases, 1 case of SMA type III, and 1 case of SMA with respiratory distress (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of the SMN1 gene (31 cases). 25 patients were followed in our centre, 7 by the Pediatric Home Hospitalisation Unit. Most of them received motor rehabilitation (15), breathing physiotherapy in 8 cases or basic respiratory care in 5. 2 cases received oxygen by low-flow nasal cannula, non-invasive ventilation in 1 case and invasive ventilation with tracheostomy in 2 cases. In 4 cases a nasogastric tube and in 1 case a gastrostomy was prescribed. The median survival for type I was 8.0 months and 15.8 years for type II. Conclusion The incidence in our population remains stable at around 1/10.000. Most cases presented a typical genetic alteration and were predominantly male. In approximately 1/10 patients the genetic alteration was different from the classical to the SMN gene. The caring level has increased in line with social and welfare demands in recent years. We improve our work with consensus statement for standard of care in spinal muscular atrophy.