Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA displays significant variability in severity, mainly due to copy number variation of the nearly homologous SMN2 gene. The clinical classification that distinguishes SMA types (i.e. types 1, 2, 3, and 4), based on age at onset and motor milestones achieved, captures the severity spectrum. Despite recent successes in the development of SMN augmenting therapies [1], SMA is in essence a disorder of developmental arrest followed by progressive weakness [2].

Source: Neuromuscular Disorders - March 1, 2019 Category: Neurology Authors: C.H. Cremers, M.J. Fischer, E.T. Kruitwagen-van Reenen, R.I. Wadman, J.J. Vervoordeldonk, M. Verhoef, J.M. Visser-Meily, W.L. van der Pol, C.D. Schr öder Source Type: research