Salbutamol Tolerability and Efficacy in Patients with Spinal Muscular Atrophy type II
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in the gene encoding survival motor neuron 1 (SMN1), which result in a degeneration of motor neurons in the spinal cord and brain stem [1]. It is the most common genetic cause of childhood mortality [2, 3], with an estimated incidence of 1 in 11,000 live births [4] and a carrier frequency of 1 in 40 –60 adults [5]. It is classified in several major phenotypes based on the age of onset and maximal motor capacity achieved [6-8].
Source: Neuromuscular Disorders - Category: Neurology Authors: A.L. Frongia, D. Natera-de Benito, C. Ortez, M. Alarc ón, A. Borrás, J. Medina, M. Vigo, N. Padrós, O. Moya, J. Armas, L. Carrera-García, J. Expósito-Escudero, D. Cuadras, S. Bernal, L. Martorell, J. Colomer, A. Nascimento Source Type: research