Article: Childhood spinal muscular atrophy.
Handbook of clinical neurology
2023 Volume 196, Page(s) 43–58
Abstract: Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal ... ...
| Abstract | Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem. It is characterized by progressive proximally accentuated muscle weakness with loss of already acquired motor skills, areflexia and, depending on the phenotype, varying degrees of weakness of the respiratory and bulbar muscles. Over the past decade, disease-modifying therapies have become available based on splicing modulation of the SMN2 with SMN1 gene replacement, which if initiated significantly modifies the natural course of the disease. Newborn screening for SMA has been implemented in an increasing number of centers; however, available evidence for these new treatments is often limited to a small spectrum of patients concerning age and disease stage. |
|---|---|
| MeSH term(s) | Child ; Humans ; Muscular Atrophy, Spinal/genetics ; Motor Neurons ; Genes, Regulator ; Brain Stem ; Motor Skills |
| Language | English |
| Publishing date | 2023-07-14 |
| Publishing country | Netherlands |
| Document type | Review ; Journal Article |
| ISSN | 0072-9752 |
| ISSN | 0072-9752 |
| DOI | 10.1016/B978-0-323-98817-9.00030-2 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.