5q spinal muscular atrophy in adults

Parastaeva D.A.; Zinovyeva O.E.; Safiulina E.I.; Strokov I.A.; Popovskaya K.A.

doi:https://doi.org/10.17116/jnevro2025125031142

Parastaeva D.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0009-0001-7024-8373

Zinovyeva O.E.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0001-5937-9463

Safiulina E.I.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0002-1233-7626

Strokov I.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0001-6950-7166

Popovskaya K.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0002-7199-7501

5q spinal muscular atrophy in adults

Authors:

Parastaeva D.A., Zinovyeva O.E., Safiulina E.I., Strokov I.A., Popovskaya K.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(3): 142‑147

DOI: 10.17116/jnevro2025125031142

Read: 1127 times

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To cite this article:

Parastaeva DA, Zinovyeva OE, Safiulina EI, Strokov IA, Popovskaya KA. 5q spinal muscular atrophy in adults. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(3):142‑147. (In Russ.)
https://doi.org/10.17116/jnevro2025125031142

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

Autosomal recessive spinal muscular atrophy (SMA), linked to chromosome 5q, is an orphan neuromuscular disease caused by mutations in the SMN1 gene (Survival Motor Neuron gene) on the long arm of chromosome 5. It is more common in males, especially at the onset of the disease in the interval from 37 months to 18 years. Since SMA is usually associated with rapid onset early in life, it is sometimes challenging to diagnose adolescents and adults as SMA symptoms are non-specific. Type IV SMA is uncommon. The onset of the disease can occur at the age of 15—50 years. The disease develops rather slowly, essentially with no effect on life duration. With this type of SMA, overall muscle strength gradually decreases, eventually causing the loss of the ability to move independently. We present our case of 5q SMA with the onset in adulthood.

Keywords:

spinal muscular atrophy

motor neuron survival gene

differential diagnosis

pathogenetic therapy

Authors:

Parastaeva D.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0009-0001-7024-8373

Zinovyeva O.E.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0001-5937-9463

Safiulina E.I.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0002-1233-7626

Strokov I.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0001-6950-7166

Popovskaya K.A.

Sechenov First Moscow State Medical University (Sechenov University)

ORCID: 0000-0002-7199-7501

Received:

15.11.2024

Accepted:

26.11.2024

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References:

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