Salbutamol Tolerability and Efficacy in Patients with Spinal Muscular Atrophy type II

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]., 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]., admin,