[Experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the SMN1 gene and the same copy number of the SMN2 gene]. / Opyt primeneniya risdiplama pri semeinom sluchae spinal'noi myshechnoi atrofii 5q u patsientov s gomozigotnoi deletsiei gena SMN1 i odinakovym kolichestvom kopii gena SMN2.
Zh Nevrol Psikhiatr Im S S Korsakova
; 124(5): 138-141, 2024.
Article
en Ru
| MEDLINE
| ID: mdl-38884441
ABSTRACT
Advances in the treatment of spinal muscular atrophy (SMA) have revolutionized the field. SMA is a rare autosomal recessive neurodegenerative motor neuron disease in which wide phenotypic variability has been described. The rate of increase in neurological deficit and the severity of the disease is mainly determined by the amount of functional SMN (Survival of Motor Neuron) protein. However, the clinical picture may differ significantly in patients carrying homozygous deletions of the SMN1 gene (Survival of Motor Neuron 1) and an identical number of copies of the SMN2 gene (Survival of Motor Neuron 2). A family clinical case of adult patients with spinal muscular atrophy 5q with a homozygous deletion of the SMN1 gene and the same number of copies of the SMN2 gene, having a different clinical picture of the disease, is presented, and the dynamics of the condition against the background of oral pathogenetic therapy is presented.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Atrofia Muscular Espinal
/
Proteína 1 para la Supervivencia de la Neurona Motora
/
Proteína 2 para la Supervivencia de la Neurona Motora
Límite:
Adult
/
Female
/
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