therapeuticЮжно-Российский журнал терапевтической практикиSouth Russian Journal of Therapeutic Practice2712-8156РостГМУ10.21886/2712-8156-2025-6-2-93-100therapeutic-621Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESМиотоническая дистрофия 2 типа: теории патогенеза и клинико-диагностические критерии (описание двух клинических случаев)Myotonic dystrophy type 2: theories of pathogenesis and clinical diagnostic criteria (description of two clinical cases)https://orcid.org/0000-0003-4246-2097Фомина-ЧертоусоваН. А.Fomina-ChertousovaN. A.

Фомина-Чертоусова Неонила Анатольевна, к.м.н., доцент кафедры нервных болезней и нейрохирургии

Ростов-на-Дону

Neonila A. Fomina-Chertousova, Cand. Sci. (Med.), associate professor

Rostov-on-Don

neo1966@yandex.ruhttps://orcid.org/0009-0002-3546-7914АшибоковаА. М.AshibokovaA. M.

Ашибокова Аурика Мурадиновна, студентка 6 курса педиатрического факультета

Ростов-на-Дону

Aurika M. Ashibokova

Rostov-on-Don

aurika.study@mail.ruhttps://orcid.org/0009-0005-3285-4320ПивачеваЕ. С.PivachevaE. S.

Пивачева Елена Сергеевна, ординатор 2-го года обучения кафедры нервных болезней и нейрохирургии

Ростов-на-Дону

Elena S. Pivacheva

Rostov-on-Don

Lenapivacheva@mail.ruФГБОУ ВО «Ростовский государственный медицинский университет» Минздрава РоссииРоссияRostov State Medical UniversityRussian Federation2025120720256293100Copyright © Фомина-Чертоусова Н.А., Ашибокова А.М., Пивачева Е.С., 20252025Фомина-Чертоусова Н.А., Ашибокова А.М., Пивачева Е.С.Fomina-Chertousova N.A., Ashibokova A.M., Pivacheva E.S.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.therapeutic-j.ru/jour/article/view/621

Миотоническая дистрофия 2 типа — это аутосомно-доминантное нейромышечное заболевание, характеризующееся медленно прогрессирующей мышечной слабостью и затруднением расслабления мышц после сокращения (миотония). Заболевание значительно влияет на психологическое состояние, экономическое положение и общее качество жизни пациентов. Рассмотрены два клинических случая миотонической дистрофии 2 типа. Отмечено, что основным симптомом, снижающим качество жизни, является миалгия.

Myotonic dystrophy type 2 is an autosomal dominant neuromuscular disease characterised by slowly progressive muscle weakness and difficulty in muscle relaxation after contraction (myotonia). The disease has a significant impact on the psychological well-being, economic status and overall quality of life of patients. Two clinical cases of myotonic dystrophy type 2 are considered. It is noted that myalgia is the main symptom reducing the quality of life.

миотоническая дистрофия 2 типаген ZNF9ген CNBPбелок цинкового пальцаCCTG-повторымиотонический феноменmyotonic dystrophy type 2ZNF9 geneCNBP genezinc finger protein 9CCTG repeatsmyotonic phenomenonReferencesMarzullo M, Coni S, De Simone A, Canettieri G, Ciapponi L. Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster. Int J Mol Sci. 2023;24(18):14182. https://doi.org/10.3390/ijms241814182Marzullo M, Coni S, De Simone A, Canettieri G, Ciapponi L. Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster. Int J Mol Sci. 2023;24(18):14182. https://doi.org/10.3390/ijms241814182Liao Q, Zhang Y, He J, Huang K. Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis. Neuroepidemiology. 2022;56(3):163-173. https://doi.org/10.1159/000524734Liao Q, Zhang Y, He J, Huang K. Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis. Neuroepidemiology. 2022;56(3):163-173. https://doi.org/10.1159/000524734Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials. 2012;33(2):302-311. https://doi.org/10.1016/j.cct.2011.11.016Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials. 2012;33(2):302-311. https://doi.org/10.1016/j.cct.2011.11.016Meola G. Myotonic dystrophy type 2: the 2020 update. Acta Myol. 2020;39(4):222-234. https://doi.org/10.36185/2532-1900-026Meola G. Myotonic dystrophy type 2: the 2020 update. Acta Myol. 2020;39(4):222-234. https://doi.org/10.36185/2532-1900-026Забненкова В.В., Галеева Н.М., Чухрова А.Л., Руденская Г.Е., Поляков А.В. Миотонические дистрофии 1 и 2 типа: 15-летний опыт ДНК-диагностики в ФГБНУ МГНЦ ФАНО России. Медицинская генетика. 2018;17(12):44-51.Zabnenkova V.V., Galeeva N.M., Chukhrova A.L., Rudenskaya G.E., Polyakov A.V. Myotonic dystrophies 1 and 2: fifteen years of experience of DNA diagnostics at FSBI RCMG. Medical Genetics. 2018;17(12):44-51. (In Russ.) https://doi.org/10.25557/2073-7998.2018.12.44-51Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, et al. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018;13(1):155. Erratum in: Orphanet J Rare Dis. 2019;14(1):199. https://doi.org/10.1186/s13023-018-0889-0Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, et al. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018;13(1):155. Erratum in: Orphanet J Rare Dis. 2019;14(1):199. https://doi.org/10.1186/s13023-018-0889-0Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011;19(7):776-782. https://doi.org/10.1038/ejhg.2011.23Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011;19(7):776-782. https://doi.org/10.1038/ejhg.2011.23Руденская Г.Е., Поляков А.В. Миотоническая дистрофия 2-го типа. Анналы клинической и экспериментальной неврологии. 2012;6(2):55-60.Rudenskaya G.E., Polyakov A.V. Myotonic dystrophy type 2. Annals of Clinical and Experimental Neurology. 2012;6(2):55-60. (In Russ.) eLIBRARY ID: 17789116 EDN: NMJDIXPeric S, Rakocevic-Stojanovic V, Meola G. Cerebral involvement and related aspects in myotonic dystrophy type 2. Neuromuscul Disord. 2021;31(8):681-694. https://doi.org/10.1016/j.nmd.2021.06.002Peric S, Rakocevic-Stojanovic V, Meola G. Cerebral involvement and related aspects in myotonic dystrophy type 2. Neuromuscul Disord. 2021;31(8):681-694. https://doi.org/10.1016/j.nmd.2021.06.002Soltanzadeh P. Myotonic Dystrophies: A Genetic Overview. Genes (Basel). 2022;13(2):367. https://doi.org/10.3390/genes13020367Soltanzadeh P. Myotonic Dystrophies: A Genetic Overview. Genes (Basel). 2022;13(2):367. https://doi.org/10.3390/genes13020367Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A. 2011;108(1):260-265. https://doi.org/10.1073/pnas.1013343108Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A. 2011;108(1):260-265. https://doi.org/10.1073/pnas.1013343108Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, et al. RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017;95(6):1292-1305.e5. https://doi.org/10.1016/j.neuron.2017.08.039Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, et al. RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017;95(6):1292-1305.e5. https://doi.org/10.1016/j.neuron.2017.08.039Cleary JD, Pattamatta A, Ranum LPW. Repeat-associated non-ATG (RAN) translation. J Biol Chem. 2018;293(42):16127-16141. https://doi.org/10.1074/jbc.R118.003237Cleary JD, Pattamatta A, Ranum LPW. Repeat-associated non-ATG (RAN) translation. J Biol Chem. 2018;293(42):16127-16141. https://doi.org/10.1074/jbc.R118.003237Czubak K, Taylor K, Piasecka A, Sobczak K, Kozlowska K, Philips A, et al. Global Increase in Circular RNA Levels in Myotonic Dystrophy. Front Genet. 2019;10:649. https://doi.org/10.3389/fgene.2019.00649Czubak K, Taylor K, Piasecka A, Sobczak K, Kozlowska K, Philips A, et al. Global Increase in Circular RNA Levels in Myotonic Dystrophy. Front Genet. 2019;10:649. https://doi.org/10.3389/fgene.2019.00649Chen W, Wang Y, Abe Y, Cheney L, Udd B, Li YP. Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol. 2007;368(1):8-17. https://doi.org/10.1016/j.jmb.2007.01.088Chen W, Wang Y, Abe Y, Cheney L, Udd B, Li YP. Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol. 2007;368(1):8-17. https://doi.org/10.1016/j.jmb.2007.01.088Ursu SF, Alekov A, Mao NH, Jurkat-Rott K. ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. Acta Myol. 2012;31(2):144-153. PMID: 23097607; PMCID: PMC3476861.Ursu SF, Alekov A, Mao NH, Jurkat-Rott K. ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. Acta Myol. 2012;31(2):144-153. PMID: 23097607; PMCID: PMC3476861.Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, et al. Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. J Neurol. 2012;259(10):2090-2099. https://doi.org/10.1007/s00415-012-6462-1Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, et al. Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. J Neurol. 2012;259(10):2090-2099. https://doi.org/10.1007/s00415-012-6462-1Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, et al. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. Neuromuscul Disord. 2015;25(4):301-307. https://doi.org/10.1016/j.nmd.2015.01.006Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, et al. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. Neuromuscul Disord. 2015;25(4):301-307. https://doi.org/10.1016/j.nmd.2015.01.006Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol. 2017;264(12):2472-2480. https://doi.org/10.1007/s00415-017-8653-2Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol. 2017;264(12):2472-2480. https://doi.org/10.1007/s00415-017-8653-2Papadopoulos C, Kekou K, Xirou S, Kitsiou-Tzeli S, Kararizou E, Papadimas GK. Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. Eye (Lond). 2018;32(3):622-625. https://doi.org/10.1038/eye.2017.280Papadopoulos C, Kekou K, Xirou S, Kitsiou-Tzeli S, Kararizou E, Papadimas GK. Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. Eye (Lond). 2018;32(3):622-625. https://doi.org/10.1038/eye.2017.280Montagnese F. Current Treatment Options for Patients with Myotonic Dystrophy Type 2. Curr Treat Options Neurol. 2021;23:31. https://doi.org/10.1007/s11940-021-00686-0Montagnese F. Current Treatment Options for Patients with Myotonic Dystrophy Type 2. Curr Treat Options Neurol. 2021;23:31. https://doi.org/10.1007/s11940-021-00686-0Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 2. Neurol Clin Pract. 2019;9(4):343-353. https://doi.org/10.1212/CPJ.0000000000000645Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 2. Neurol Clin Pract. 2019;9(4):343-353. https://doi.org/10.1212/CPJ.0000000000000645Minnerop M, Luders E, Specht K, Ruhlmann J, Schneider-Gold C, Schröder R, et al. Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2. J Neurol. 2008;255(12):1904-1909. https://doi.org/10.1007/s00415-008-0997-1Minnerop M, Luders E, Specht K, Ruhlmann J, Schneider-Gold C, Schröder R, et al. Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2. J Neurol. 2008;255(12):1904-1909. https://doi.org/10.1007/s00415-008-0997-1van Vliet J, Tieleman AA, van Engelen BGM, Bassez G, Servais L, Béhin A, et al. Hearing impairment in patients with myotonic dystrophy type 2. Neurology. 2018a;90:e615-22. https://doi.org/10.1212/WNL.0000000000004963van Vliet J, Tieleman AA, van Engelen BGM, Bassez G, Servais L, Béhin A, et al. Hearing impairment in patients with myotonic dystrophy type 2. Neurology. 2018a;90:e615-22. https://doi.org/10.1212/WNL.0000000000004963Romigi A, Maestri M, Nicoletta C, Vitrani G, Caccamo M, Siciliano G, et al. Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. Curr Neurol Neurosci Rep. 2019;19(2):9. https://doi.org/10.1007/s11910-019-0924-0Romigi A, Maestri M, Nicoletta C, Vitrani G, Caccamo M, Siciliano G, et al. Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. Curr Neurol Neurosci Rep. 2019;19(2):9. https://doi.org/10.1007/s11910-019-0924-0Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60(4):657-664. https://doi.org/10.1212/01.wnl.0000054481.84978.f9Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60(4):657-664. https://doi.org/10.1212/01.wnl.0000054481.84978.f9

The authors declare that there are no conflicts of interest present.