Advances and limitations for the treatment of spinal muscular atrophy.
Apitegromab
Myostatin
Nusinersen
Onasemnogene abeparvovec-xioi
Risdiplam
SRK-015
Spinal muscular atrophy
Survival motor neuron
Survival motor neuron-1 gene
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
03 Nov 2022
03 Nov 2022
Historique:
received:
12
12
2021
accepted:
16
10
2022
entrez:
4
11
2022
pubmed:
5
11
2022
medline:
8
11
2022
Statut:
epublish
Résumé
Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein. The highly homologous SMN2 gene primarily expresses a rapidly degraded isoform of SMN protein that causes anterior horn cell degeneration, progressive motor neuron loss, skeletal muscle atrophy and weakness. Severe cases result in limited mobility and ventilatory insufficiency. Untreated SMA is the leading genetic cause of death in young children. Recently, three therapeutics that increase SMN protein levels in patients with SMA have provided incremental improvements in motor function and developmental milestones and prevented the worsening of SMA symptoms. While the therapeutic approaches with Spinraza
Identifiants
pubmed: 36329412
doi: 10.1186/s12887-022-03671-x
pii: 10.1186/s12887-022-03671-x
pmc: PMC9632131
doi:
Substances chimiques
Myostatin
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
632Informations de copyright
© 2022. The Author(s).
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