[Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen]. / Opyt lecheniya nusinersenom spinal'noi myshechnoi atrofii 3-go tipa Kugel'bergaVelander.
Zh Nevrol Psikhiatr Im S S Korsakova
; 124(4): 153-158, 2024.
Article
en Ru
| MEDLINE
| ID: mdl-38676690
ABSTRACT
Before the advent of pathogenetic therapy, the diagnosis of spinal muscular atrophy (SMA) meant the loss of all hopes for recovery and the patient's setting on the path of a steady decline in motor functions, a deterioration in the quality of life and, ultimately, inevitable early death. Currently, new methods of pathogenetic therapy with nusinersen and risdiplam, as well as etiological therapy with onasemnogene abeparvovec, are available in the Russia. Nusinersen is an antisense oligonucleotide that modifies splicing of the SMN2 gene to increase production of normal full-length motor neuron survival protein, which is deficient in SMA. The mechanism of action of Nusinersen is based on the activation of the disabled exon 7 of the SMN2 gene. The article describes an example of long-term effective treatment using pathogenetic therapy of a patient diagnosed with SMA type 3.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Oligonucleótidos
/
Atrofias Musculares Espinales de la Infancia
/
Proteína 2 para la Supervivencia de la Neurona Motora
Límite:
Humans
/
Male
Idioma:
Ru
Revista:
Zh Nevrol Psikhiatr Im S S Korsakova
Asunto de la revista:
NEUROLOGIA
/
PSIQUIATRIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Rusia
Pais de publicación:
Rusia