Sma clinical data, outcome measures and registries

Spinal muscular atrophy (SMA) refers to a group of autosomal recessive disorders characterized by degeneration of anterior horn cells in the spinal cord resulting in a progressive muscular weakness and atrophy. Our study is focused on the assessment of clinical course in patients with SMA types. To characterize the natural history of SMA 2 patients to gain further insight into the clinical course, we conducted a prospective observational cohort study of children and young adults with SMA 2. Patients were evaluated every 6 months over an 18 moth period.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: D. Natera - de Benito, A. Frongia, M. Alarc ón, A. Borras, J. Armas, J. Exposito, L. Carrera, L. Martorell, D. Moya, N. Padros, S. Roca, M. Vigo, J. Medina, J. Colomer, C. Ortez, A. Nascimento Source Type: research