Article
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.
Drug design, development and therapy - 1 Jan 2022
Hjartarson Helgi Thor, Nathorst-Böös Kristofer, Sejersen Thomas
Abstract excerpt
SMA (5q SMA) is an autosomal recessive neuromuscular disease with an estimated incidence of approximately 1 in 11,000 live births, characterized by progressive degeneration and loss of α-motor neurons in the spinal cord and brain stem, resulting in progressive muscle weakness. The disease spectrum is wide, from a serious congenital to a mild adult-onset disease. SMA is caused by biallelic mutations in the SMN1...
Topics
- Humans
- Motor Neurons
- Muscular Atrophy, Spinal
- Phenotype
- Prognosis