Neuromuscular Diseases
"Neuromuscular Diseases" — scientific and practical journal. Established in 2011.
Impact factor in RusSCI: 1,000.
Official journal of the Regional Public Organization “Association of Neuromuscular Disorders Specialists”.
Is included into the List of the leading scientific journals and publications defined by the Higher Attestation Commission (HAC).
From May 2017 included in Scopus.
Chief editor — Sergey S. Nikitin.
The journal is devoted to modern diagnostic tools and treatment of neuromuscular diseases.
Recommended reading for neurologists, EDX and specialists in visualization in neurological and muscle diseases, geneticists, pedeiatricians, rehabilitation specialists and all interested.
Reviews, outcomes of original studies, clinical cases, diagnostic guidelines, treatment options, reports on significant events in the field of neuromuscular diseases as well as historical aspects are presented.
Frequency: 4 issues per year.
Format: А4.
Volume: 60–80 pages.
Circulation: 7500 copies.
Disrtibution: addressed on the territory of the Russian Federation and CIS countries.
Index of subscription: in the “Press of Russia” catalogue — 90986.
Anyone can subscribe to the Journal in the site of the «ABV-press» Publishing house.
Information about types of advertising in the printed publications can be found in «Cooperate» section.
Current Issue
Vol 15, No 3 (2025)
- Year: 2025
- Published: 24.12.2025
- Articles: 5
- URL: https://nmb.abvpress.ru/jour/issue/view/55
Full Issue
ORIGINAL REPORTS
Nosological structure and frequency of autosomal dominant spinocerebellar ataxias associated with nucleotide repeat expansions in Russia
Abstract
Background. Expansion-based autosomal dominant spinocerebellar ataxias (ADSСA-E) represent a clinically and genetically heterogeneous group of inherited neurodegenerative disorders characterized by cerebellar atrophy. According to global population data, they account for approximately 61 % of all autosomal dominant spinocerebellar ataxias. The number of nucleotide repeats is a key determinant of penetrance, expressivity, and age of onset, necessitating precise molecular genetic analysis. Significant differences in the structure of ADSСA-E across populations underscore the need for regional studies.
Aim. Analysis of the molecular structure and frequency of ADSCA-E in a sample of Russian patients with cerebellar ataxias.
Materials and methods. DNA samples from 1272 patients with clinical signs of ataxia (2017–2024) were analyzed. The number of repeats in the ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATXN10, PPP2R2B, NOP56, and ATXN8OS genes was determined using fluorescent polymerase chain reaction and fragment analysis. The age at referral to the laboratory was considered an indirect marker of disease aggressiveness. Statistical analysis was performed using GraphPad Prism 10. Differences were considered statistically significant at p <0.05. Pearson’ correlation coefficient was used to calculate correlation.
Results. A pathological expansion was identified in 102 (8 %) patients. The most frequent form was spinocerebellar ataxia (SCA) type 1 (62.7 %), followed by SCA type 2 (17.6 %), SCA type 3 (5.9 %), and SCA type 6 (3.9 %); other types were rare. A case of combined SCA type 1 and SCA type 8 mutations was recorded in one patient. For SCA type 1 and SCA type 2, a significant negative correlation was established between the expansion size and the age at referral (p <0.0001; r = –0.6839 and –0.8838, respectively).
Conclusion. Data on the frequency and spectrum of ADSCA-E in the Russian Federation, including rare forms, were obtained. The prognostic significance of the repeat number was confirmed, and the necessity of molecular genetic testing, taking into account regional disease prevalence patterns, was emphasized.
10-21
Fall risk associated with motor function in patients with hereditary cerebellar ataxias
Abstract
Background. The main clinical manifestation of hereditary cerebellar ataxias is a progressive loss of motor coordination and balance, leading to a reduced quality of life increased risk of falls. Balance impairments in patients are assessed using both general clinical and specialized scales, which allow for a detailed characterization of symptoms.
Aim. To investigate the clinical and stabilometric parameters of balance and risk factors for falls in patients with hereditary cerebellar ataxias.
Materials and methods. The study included 38 patients with hereditary cerebellar ataxias and 22 healthy volunteers in the control group. To assess balance impairments, mobility, and fall risk, general clinical scales (the Timed Up and Go (TUG) test, the Berg Balance Scale (BBS), the 10-meter walk test) and specific scales (the Scale for the Assessment and Rating of Ataxia (SARA), the International Cooperative Ataxia Rating Scale (ICARS)) were used. Stabilometric parameters were recorded using the ST-150 platform. Based on the clinical scales, patients were stratified according to their risk of falls.
Results. When stratifying patients by fall risk, the use of general clinical scales led to different risk level classifications: according to the TUG test, the majority of patients (65 %) had a low risk, while according to the BBS, 76 % were classified as high-risk. Gait analysis confirmed a decrease in comfortable and fast walking speed with an increase in fall risk, which was more pronounced when stratified by the TUG test, reflecting dynamic balance impairments. The use of specific scales (SARA and ICARS) established that ataxia symptoms worsen with an increase in fall risk, especially when grouped by the TUG test, which better reflects the clinical features of patients associated with fall risk. Stabilometric analysis revealed significant changes in static and static-dynamic balance parameters even in patients with no fall risk according to the TUG test, and also showed that the BBS is the most sensitive to these impairments.
Conclusion. The combined use of the BBS and the TUG test allows for a comprehensive assessment of balance disorders and enables the personalization of rehabilitation and fall prevention programs for this patient group.
22-37
LECTURES AND REVIEWS
Targets of epigenetic regulation in Duchenne muscular dystrophy: pathogenetic and clinical background for myoprotective anti-inflammatory and antifibrotic therapy
Abstract
Duchenne muscular dystrophy is an inherited X-linked disorder characterized by progressive muscle wasting, loss of mobility, and death from cardiorespiratory complications. The absence of functional dystrophin triggers a cascade of pathological events in muscles including chronic inflammation, impaired regeneration, and substitutive fibroadipose degeneration. New approaches aimed at restoring or replacing dystrophin synthesis increased the delay in loss of ambulation achieved with standard corticosteroid therapy, but high demand for a different mechanism of action regardless of the DMD mutation variant remains. Givinostat is the first histone deacetylase inhibitor for Duchenne muscular dystrophy treatment, showing a positive myoprotective effect on key pathogenetic consequences of dystrophin dysfunction regardless of the mutation in the DMD gene. In clinical studies, givinostat improves motor function, reduces inflammatory infiltration and fibroadipose degeneration of muscle tissue, and allows to delay the loss of ambulatory function by almost 3 years.
38-46
Neuroimaging in hereditary neuromuscular disorders: a literature review and clinical case reports
Abstract
Hereditary neuromuscular disorders (NMDs) comprise a clinically and genetically heterogeneous group of conditions characterized by the involvement of the peripheral nervous system and skeletal muscles. This work presents a literature review focusing on brain neuroimaging findings in hereditary NMDs detected by magnetic resonance imaging.
The aim of this work was to describe and synthesize current data on brain magnetic resonance imaging abnormalities across various hereditary NMDs, based on a literature review and a clinical case series, and to evaluate potential clinico-radiological correlations.
A literature search was conducted in the PubMed database from 1984 to 2025 July using keywords including (white matter lesion) AND (myotonic dystrophy), (white matter lesion) AND (hereditary neuropathy), (white matter lesion) AND (Charcot–Marie–Tooth), (white matter lesion) AND (muscular dystrophy), (white matter lesion) AND (myasthenic syndrome), and (white matter lesion) AND (motor neuron disease). A total of 107 publications were included in the final review. A clinical case series with magnetic resonance imaging data is also presented, including Charcot–Marie–Tooth disease type 1X, myotonic dystrophy types 1 and 2, merosin-deficient congenital muscular dystrophy, and limb-girdle muscular dystrophy type 23.
The reviewed literature indicates that brain magnetic resonance imaging can have both diagnostic and prognostic clinical significance in some hereditary NMDs, especially in myotonic dystrophies, merosin-deficient muscular dystrophy, and Charcot–Marie–Tooth disease type 1X. The presented case series illustrates the variety of magnetic resonance imaging patterns and their association with clinical manifestations, underscoring the importance of integrating neuroimaging into the diagnostic workup for hereditary NMDs.
47-63
Diversity of clinical manifestations of diseases associated with the RFC1 gene
Abstract
Biallelic pentanucleotide AAGGG expansion in the RFC1 gene is the molecular basis of сerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), one of the most common causes of late-onset ataxias. The phenotypic spectrum of RFC1-associated pathology has significantly expanded in recent years: it includes motor neuron disease, parkinsonism, cognitive impairment, and isolated manifestations of CANVAS symptoms (polyneuropathy, bilateral vestibulopathy, and chronic cough). This review summarizes current information on the phenotypic diversity of RFC1-associated diseases, which changes the understanding of diagnostic tactics and differential diagnostic algorithms for CANVAS and a number of other forms of neurodegenerative pathology.
64-71
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