Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Spinal muscular atrophy (SMA) is one of the most common rare diseases with 1 in 10,000 people worldwide affected. It is an autosomal-recessive disorder caused by mutations in the survival motor neuron 1 gene (SMN1) leading to motor neuron degeneration. Clinically, SMA manifests in various ranges of severity including progressive muscle weakness and loss of motor function. Several therapeutic strategies, including modulation of SMN2 splicing and SMN1 replacement by gene therapy, are currently under investigation.

Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. Chabanon, Y. Pereon, A. Daron, C. Cances, C. Vuillerot, S. Fontaine, N. Goemans, L. De Waele, V. Laugel, J. Cuisset, U. Schara, A. Gangfuss, T. Gidaro, E. Gargaun, A. Marquet, M. Villeret, A. Phelep, M. Annoussamy, L. Servais Source Type: research