42 research outputs found
Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander): evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool
Amiotrofia espinal infantil com evolução atípica relato de dois casos: report of two cases
Unusual type of neural muscular atrophy with a possible X-chromosomal inheritance pattern
Of SMN in mice and men: a therapeutic opportunity
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI, two independent research groups report novel observations in mouse models of severe SMA that provide hope that this approach will afford meaningful benefit to individuals with SMA