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Petrokovskaia A.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Gilvanova O.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Degterev D.A.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Tkachenko V.D.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Lebedev V.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Frequency of 5q spinal muscular atrophy in adults with unspecified neuromuscular diseases

Authors:

Petrokovskaia A.V., Gilvanova O.V., Degterev D.A., Tkachenko V.D., Lebedev V.V.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(3): 68‑73

DOI: 10.17116/jnevro202612603168

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Table of contents

FREQUENCY OF 5Q SPINAL MUSCULAR ATROPHY IN ADULTS WITH UNSPECIFIED NEUROMUSCULAR DISEASES
FREQUENCY OF 5Q SPINAL MUSCULAR ATROPHY IN ADULTS WITH UNSPECIFIED NEUROMUSCULAR DISEASES

To cite this article:

Petrokovskaia AV, Gilvanova OV, Degterev DA, Tkachenko VD, Lebedev VV. Frequency of 5q spinal muscular atrophy in adults with unspecified neuromuscular diseases. S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(3):68‑73. (In Russ.)
https://doi.org/10.17116/jnevro202612603168

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:

OBJECTIVE

To assess the prevalence of 5q spinal muscular atrophy (SMA) among adult patients with undifferentiated neuromuscular disorders.

MATERIAL AND METHODS

Prospective study of 50 patients (19—78 years) presenting ≥1 feature of 5q SMA: areflexia, proximal weakness, fasciculations, neurogenic EMG changes, atrophy, calf hypertrophy, or elevated creatine kinase (CK). Molecular testing (MLPA/melting curve analysis of SMN1/SMN2) was performed.

RESULTS

5q SMA was confirmed in one female patient (2% [95% CI 0.05—10.6]), who was found to have a homozygous deletion of exons 7—8 in the SMN1 gene. Her clinical presentation included proximal lower limb weakness and neurogenic EMG changes, but she lacked areflexia and had normal CK levels. For 29 years, she had been misdiagnosed with «unspecified myopathy»(G72.9).

CONCLUSION

The findings highlight the need to include 5q SMA in the differential diagnosis of adult patients with undifferentiated neuromuscular disorders. Optimizing diagnostic algorithms and enhancing epidemiological monitoring in this age group are essential to reduce diagnostic delays.

Keywords:

spinal muscular atrophy
5q SMA
SMN1
neuromuscular disorders
delayed diagnosis

Authors:

Petrokovskaia A.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Gilvanova O.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Degterev D.A.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Tkachenko V.D.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Lebedev V.V.

Loginov Moscow Clinical Scientific Center, Moscow, Russia

Received:

26.01.2026

Accepted:

30.01.2026

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References:

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