Spinal Muscular Atrophy.
Semin Pediatr Neurol
; 37: 100878, 2021 04.
Article
in En
| MEDLINE
| ID: mdl-33892848
ABSTRACT
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Muscular Atrophy, Spinal
/
Genetic Therapy
Type of study:
Diagnostic_studies
Limits:
Humans
/
Newborn
Language:
En
Journal:
Semin Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2021
Type:
Article