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Novikova E.S.

Moscow Regional Research and Clinical Institute («MONIKI»)

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

Authors:

Novikova E.S.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(5): 138‑141

DOI: 10.17116/jnevro2024124051138

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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
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

To cite this article:

Novikova ES. 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. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(5):138‑141. (In Russ.)
https://doi.org/10.17116/jnevro2024124051138

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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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.

Keywords:

spinal muscular atrophy
SMN1 gene
SMN2 gene
treatment
risdiplam

Authors:

Novikova E.S.

Moscow Regional Research and Clinical Institute («MONIKI»)

Received:

13.02.2024

Accepted:

14.02.2024

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References:

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