Миотоническая дистрофия: генетика и полиморфизм клинических проявлений

Ekaterina O. Ivanova1, Anna N. Moskalenko1, Ekaterina Yu. Fedotova1, Sergey A. Kurbatov2, Sergey N. Illarioshkin1
1ФГБНУ «Научный центр неврологии», Москва, Россия; 2АУЗ ВО «Воронежский областной клинический консультативно-диагностический центр», Воронеж, Россия

Аннотация


Миотоническая дистрофия — наиболее частая наследственная форма мышечной дистрофии у взрослых. Заболевание характеризуется прогрессирующим типом течения, аутосомно-доминантным наследованием и мультисистемным поражением (скелетные мышцы, миокард, эндокринная система, орган зрения и др.). В статье рассматриваются клинические проявления миотонической дистрофии 1-го и 2-го типов, а также анализируются генетические аспекты и современные подходы к диагностике миотонической дистрофии. Представлено собственное клиническое наблюдение заболевания в семье, демонстрирующее редкое сочетание миотонической дистрофии 1-го типа, сирингомиелии и проксимальной мышечной слабости, а также наглядный пример феномена антиципации.

Литература

  1. Harper P.S., Karpati G., Hilton-Jones D., Griggs R.C. (eds.) Myotonic dystrophy. Disorders of Voluntary Muscle. Cambridge: Cambridge University Press, 2001: 541–559.
  2. Meola G., Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta 2015; 1852: 594–606. DOI: 10.1016/j.bbadis.2014.05.019. PMID: 24882752.
  3. Brook J.D., McCurrach M.E., Harley H.G. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799–808. PMID: 1568252
  4. Udd B., Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012; 11: 891–905. DOI: 10.1016/S1474-4422(12)70204-1. PMID: 22995693.
  5. Savić Pavićević D., Miladinović J., Brkušanin M. et al. Molecular genetics and genetic testing in myotonic dystrophy type 1. BioMed Research International 2013; 2013: 391821. DOI: 10.1155/2013/391821. PMID: 23586035.
  6. Meola G., Cardani R. Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Neurol Sci 2017; 38: 535–546. DOI: 10.1007/s10072-016-2805-5. PMID: 28078562.
  7. Руденская Г.Е., Поляков А.В. Дистрофическая миотония 2 типа. Анналы клинической и экспериментальной неврологии 2012; 2: 55–60.
  8. Mankodi A., Takahashi M.P., Jiang H. et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell  2002; 10: 35–44. PMID: 12150905.
  9. Machuca-Tzili L., Brook D., Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005; 32: 1–18. DOI: 10.1002/mus.20301. PMID: 15770660.
  10. Ho G., Cardamone M., Farrar M.  Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr 2015; 4: 66–80. DOI: 10.5409/wjcp.v4.i4.66. PMID: 26566479.
  11. Echenne B., Bassez G. Congenital and infantile myotonic dystrophy. Handb Clin Neurol 2013; 113: 1387–1393. DOI: 10.1016/B978-0-444-59565-2.00009-5. PMID: 23622362.
  12. Douniol M., Jacquette A., Cohen D. et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012; 54: 905–911. DOI: 10.1111/j.1469-8749.2012.04379.x. PMID: 22861906.
  13. Ho G., Carey K.A., Cardamone M., Farrar M.A. Myotonic dystrophy type 1: clinical manifestations in children and adolescents. Arch Dis  Child  2019; 104: 48–52.   DOI: 10.1136/archdischild-2018-314837. PMID: 29871899.
  14. Montagnese F., Mondello S., Wenninger S. et al. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol 2017; 264: 2472–2480. DOI: 10.1007/s00415-017-8653-2. PMID: 29086017.
  15. Wenninger S., Montagnese F., Schoser B. Core clinical phenotypes in myotonic dystrophies. Front Neurol 2018; 9: 303. DOI: 10.3389/fneur.2018.00303. PMID: 29770119
  16. Jiménez-Moreno A.C., Raaphorst J., Babačić H. et al. Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Neuromuscul Disord  2018; 28: 229–235. DOI: 10.1016/j.nmd.2017.12.010. PMID: 29361394.
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  21. Pelargonio G., Dello Russo A., Sanna T. et al. Myotonic dystrophy and the heart. Heart 2002; 88: 665–670. PMID: 12433913.
  22. Groh W.J., Groh M.R., Groh W.J. et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008; 358: 2688–2697. DOI: 10.1056/NEJMoa062800. PMID: 18565861.
  23. Duboc D., Wahbi K. What is the best way to detect infra-Hisian conduction abnormalities and prevent sudden cardiac death in myotonic dystrophy? Heart 2012; 98: 433–434. DOI: 10.1136/heartjnl-2011-301407. PMID: 22350028.
  24. Meola G., Moxley R.T. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004; 251: 1173–1182. DOI: 10.1007/s00415-004-0590-1. PMID: 15503094.
  25. Schneider-Gold C., Beer M., Kostler H. et al. Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. Muscle Nerve 2004; 30: 636–644. DOI: 10.1002/mus.20156. PMID: 15452841.
  26. Smith C. A., Gutmann L. Myotonic dystrophy type 1 management and therapeutics. Curr Treat Options Neurol 2016; 18: 52. DOI: 10.1007/s11940-016-0434-1. PMID: 27826760.
  27. Orngreen M.C., Arlien-Soborg P., Duno M. et al. Endocrine function in 97 patients with myotonic dystrophy type 1. J Neurol 2012; 259: 912– 920. DOI: 10.1007/s00415-011-6277-5. PMID: 22349862.
  28. Turner C., Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry 2010; 81: 358–367. DOI: 10.1136/jnnp.2008.158261. PMID: 20176601.
  29. Savkur R.S., Philips A.V., Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29: 40–47. DOI: 10.1038/ng704. PMID: 11528389.
  30. Passeri E., Bugiardini E., Sansone V.A. et al. Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.  J Neurol Sci  2013; 331: 132–135. DOI: 10.1016/j.jns.2013.06.008. PMID: 23809192.
  31. Angeard N., Jacquette A., Gargiulo M. et al.  A new window on neurocognitive dysfunction in the childhood form of Myotonic Dystrophy Type 1 (DM1).  Neuromuscul Disord 2011; 21: 468–476. DOI: 10.1016/j.nmd.2011.04.009. PMID: 21592796.
  32. Ekström A.B., Hakenäs-Plate L., Tulinius M., Wentz E. Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.  Dev Med Child Neurol 2009; 51: 982–990. DOI: 10.1111/j.1469-8749.2009.03300.x. PMID: 19459914.
  33. Douniol M., Jacquette A., Cohen D. et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012; 54: 905–911. DOI: 10.1111/j.1469-8749.2012.04379.x. PMID: 22861906.
  34. Douniol M., Jacquette A., Guilé J.M. et al. Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.  Eur Child Adolesc Psychiatry 2009; 18: 705–715. DOI: 10.1007/s00787-009-0037-4. PMID: 19543792.
  35. Schneider-Gold C., Bellenberg B., Prehn C. et al. Cortical and subcortical grey and white matter atrophy in myotonic dystrophies type 1 and 2 is associated with cognitive impairment, depression and daytime sleepiness. PLoS One 2015; 10: e0130352. DOI: 10.1371/journal.pone.0130352. PMID: 26114298.
  36. Peric S., Stojanovic V.R., Nikolic A. et al. Peripheral neuropathy in patients with myotonic dystrophy type 1. Neurol Res 2013; 35: 331–335.   DOI: 10.1179/1743132812Y.0000000144. PMID: 23336676.
  37. Leonardis L. Peripheral neuropathy in patients with myotonic dystrophy type 2. Acta Neurol Scand 2016; 135: 568–575.   DOI: 10.1111/ane.12635. PMID: 27401721.
  38. Ronnblom A., Andersson S., Hellstrom P.M., Danielsson A. Gastric emptying in myotonic dystrophy. Eur J Clin Invest 2002; 32: 570–574. PMID: 12190956.
  39. Turner C., Hilton-Jones D. Myotonic dystrophy:  diagnosis,  management  and new therapies. Curr Opin Neurol  2014; 27: 599–606. DOI: 10.1097/WCO.0000000000000128. PMID: 25121518.
  40. Zampetti A., Silvestri G., Manco S. et al. Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study.  J Am Acad Dermatol  2015; 72: 85–91. DOI: 10.1016/j.jaad.2014.09.038. PMID: 25440959.
  41. Campanati A., Giannoni M., Buratti L. et al. Skin features in myotonic dystrophy type 1: an observational study.  Neuromusc Disord  2015; 25: 409–413. DOI: 10.1016/j.nmd.2015.02.013. PMID: 25813338.
  42. Win A.K., Perattur P.G., Pulido J.S. et al. Increased cancer risks in myotonic dystrophy.  Mayo Clin Proc  2012; 87: 130–135. DOI: 10.1016/j.mayocp.2011.09.005. PMID: 22237010.
  43. Gadalla S.M., Lund M., Pfeiffer R.M. et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011; 306: 2480–2486. DOI: 10.1001/jama.2011.1796. PMID: 22166607.
  44. Van Vliet J., Tieleman A.A., van Engelen B.G.M. et al.  Hearing impairment in patients with myotonic dystrophy type 2.  Neurology 2018; 90: e615–е622.10.1212. DOI: 10.1212/WNL.0000000000004963. PMID: 29343467.
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  47. Okkersen K., Monckton D.G., Le N. et al. Brain imaging in myotonic dystrophy type 1: A systematic review. Neurology 2017; 89: 960–969.   DOI: 10.1212/WNL.0000000000004300. PMID: 28768849.
  48. Kornblum C., Reul J., Kress W. et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol 2004; 251: 710–714. DOI: 10.1007/s00415-004-0408-1. PMID: 15311347.
  49. Wattjes M.P., Kley R.A., Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010; 20: 2447–2460. DOI: 10.1007/s00330-010-1799-2. PMID: 20422195.
  50. Vihola A., Bassez G., Meola G. et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003; 60: 1854–1857. PMID: 12796551.
  51. Levisky R.B., Vianna-Morgante A.M., Frota-Pessoa O. et al. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.  J Med Genet  1977; 14: 51–53. PMID: 839501.
  52. Mascalchi M., Padovani R., Taiuti R., Quilici N. Syringomyelia in myotonic dystrophy due to spinal hemangioblastoma. Surg Neurol 1998; 50: 446–448. PMID: 9842869.
  53. Yu X.L., ., Jia R.Z., ., Shan P.Y. . et al. Myotonic dystrophy type 1 with syringomyelia in a young patient. Chin Med J (Engl) 2016; 129: 487–489. DOI: 10.4103/0366-6999.176070. PMID: 26879026

Ключевые слова

миотоническая дистрофия; миопатия; мультисистемное поражение; экспансия микросателлитных повторов; антиципация; сирингомиелия

Полный текст:

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Литература

Harper P.S., Karpati G., Hilton-Jones D., Griggs R.C. (eds.) Myotonic dystrophy. Disorders of Voluntary Muscle. Cambridge: Cambridge University Press, 2001: 541–559.

Meola G., Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta 2015; 1852: 594–606. DOI: 10.1016/j.bbadis.2014.05.019. PMID: 24882752.

Brook J.D., McCurrach M.E., Harley H.G. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799–808. PMID: 1568252

Udd B., Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012; 11: 891–905. DOI: 10.1016/S1474-4422(12)70204-1. PMID: 22995693.

Savić Pavićević D., Miladinović J., Brkušanin M. et al. Molecular genetics and genetic testing in myotonic dystrophy type 1. BioMed Research International 2013; 2013: 391821. DOI: 10.1155/2013/391821. PMID: 23586035.

Meola G., Cardani R. Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Neurol Sci 2017; 38: 535–546. DOI: 10.1007/s10072-016-2805-5. PMID: 28078562.

Rudenskaya G.E., Polyakov A.V. [Myotonic dystrophy type 2]. Annals of clinical and experiental neurology 2012; 2: 55–60. (In Russ.)

Mankodi A., Takahashi M.P., Jiang H. et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002; 10: 35–44. PMID: 12150905.

Machuca-Tzili L., Brook D., Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005; 32: 1–18. DOI: 10.1002/mus.20301. PMID: 15770660.

Ho G., Cardamone M., Farrar M. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr 2015; 4: 66–80. DOI: 10.5409/wjcp.v4.i4.66. PMID: 26566479.

Echenne B., Bassez G. Congenital and infantile myotonic dystrophy. Handb Clin Neurol 2013; 113: 1387–1393. DOI: 10.1016/B978-0-444-59565-2.00009-5. PMID: 23622362.

Douniol M., Jacquette A., Cohen D. et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012; 54: 905–911. DOI: 10.1111/j.1469-8749.2012.04379.x. PMID: 22861906.

Ho G., Carey K.A., Cardamone M., Farrar M.A. Myotonic dystrophy type 1: clinical manifestations in children and adolescents. Arch Dis Child 2019; 104: 48–52. DOI: 10.1136/archdischild-2018-314837. PMID: 29871899.

Montagnese F., Mondello S., Wenninger S. et al. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol 2017; 264: 2472–2480. DOI: 10.1007/s00415-017-8653-2. PMID: 29086017.

Wenninger S., Montagnese F., Schoser B. Core clinical phenotypes in myotonic dystrophies. Front Neurol 2018; 9: 303. DOI: 10.3389/fneur.2018.00303. PMID: 29770119

Jiménez-Moreno A.C., Raaphorst J., Babačić H. et al. Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Neuromuscul Disord 2018; 28: 229–235. DOI: 10.1016/j.nmd.2017.12.010. PMID: 29361394.

Boentert M., Wenninger S., Sansone V.A. Respiratory involvement in neuromuscular disorders. Curr Opin Neurol 2017; 30: 529–537. DOI: 10.1097/WCO.0000000000000470. PMID: 28562381.

Kornblum C., Lutterbey G., Bogdanow M. et al. Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2. J Neurol 2006; 253: 753–761. DOI: 10.1007/s00415-006-0111-5. PMID: 16511650.

Colding-Jorgensen E. Electromyography and diagnosis of muscular diseases. Ugeskr Laeger 2005; 167: 3070. PMID: 16109264.

Suokas K.I., Haanpää M., Kautiainen H. et al. Pain in patients with myotonic dystrophy type 2: A postal survey in Finland. Muscle Nerve 2011; 45: 70–74. DOI: 10.1002/mus.22249. PMID: 22190310.

Pelargonio G., Dello Russo A., Sanna T. et al. Myotonic dystrophy and the heart. Heart 2002; 88: 665–670. PMID: 12433913.

Groh W.J., Groh M.R., Groh W.J. et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008; 358: 2688–2697. DOI: 10.1056/NEJMoa062800. PMID: 18565861.

Duboc D., Wahbi K. What is the best way to detect infra-Hisian conduction abnormalities and prevent sudden cardiac death in myotonic dystrophy? Heart 2012; 98: 433–434. DOI: 10.1136/heartjnl-2011-301407. PMID: 22350028.

Meola G., Moxley R.T. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004; 251: 1173–1182. DOI: 10.1007/s00415-004-0590-1. PMID: 15503094.

Schneider-Gold C., Beer M., Kostler H. et al. Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. Muscle Nerve 2004; 30: 636–644. DOI: 10.1002/mus.20156. PMID: 15452841.

Smith C. A., Gutmann L. Myotonic dystrophy type 1 management and therapeutics. Curr Treat Options Neurol 2016; 18: 52. DOI: 10.1007/s11940-016-0434-1. PMID: 27826760.

Orngreen M.C., Arlien-Soborg P., Duno M. et al. Endocrine function in 97 patients with myotonic dystrophy type 1. J Neurol 2012; 259: 912– 920. DOI: 10.1007/s00415-011-6277-5. PMID: 22349862.

Turner C., Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry 2010; 81: 358–367. DOI: 10.1136/jnnp.2008.158261. PMID: 20176601.

Savkur R.S., Philips A.V., Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29: 40–47. DOI: 10.1038/ng704. PMID: 11528389.

Passeri E., Bugiardini E., Sansone V.A. et al. Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies. J Neurol Sci 2013; 331: 132–135. DOI: 10.1016/j.jns.2013.06.008. PMID: 23809192.

Angeard N., Jacquette A., Gargiulo M. et al. A new window on neurocognitive dysfunction in the childhood form of Myotonic Dystrophy Type 1 (DM1). Neuromuscul Disord 2011; 21: 468–476. DOI: 10.1016/j.nmd.2011.04.009. PMID: 21592796.

Ekström A.B., Hakenäs-Plate L., Tulinius M., Wentz E. Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms. Dev Med Child Neurol 2009; 51: 982–990. DOI: 10.1111/j.1469-8749.2009.03300.x. PMID: 19459914.

Douniol M., Jacquette A., Cohen D. et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012; 54: 905–911. DOI: 10.1111/j.1469-8749.2012.04379.x. PMID: 22861906.

Douniol M., Jacquette A., Guilé J.M. et al. Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy. Eur Child Adolesc Psychiatry 2009; 18: 705–715. DOI: 10.1007/s00787-009-0037-4. PMID: 19543792.

Schneider-Gold C., Bellenberg B., Prehn C. et al. Cortical and subcortical grey and white matter atrophy in myotonic dystrophies type 1 and 2 is associated with cognitive impairment, depression and daytime sleepiness. PLoS One 2015; 10: e0130352. DOI: 10.1371/journal.pone.0130352. PMID: 26114298.

Peric S., Stojanovic V.R., Nikolic A. et al. Peripheral neuropathy in patients with myotonic dystrophy type 1. Neurol Res 2013; 35: 331–335. DOI: 10.1179/1743132812Y.0000000144. PMID: 23336676.

Leonardis L. Peripheral neuropathy in patients with myotonic dystrophy type 2. Acta Neurol Scand 2016; 135: 568–575. DOI: 10.1111/ane.12635. PMID: 27401721.

Ronnblom A., Andersson S., Hellstrom P.M., Danielsson A. Gastric emptying in myotonic dystrophy. Eur J Clin Invest 2002; 32: 570–574. PMID: 12190956.

Turner C., Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol 2014; 27: 599–606. DOI: 10.1097/WCO.0000000000000128. PMID: 25121518.

Zampetti A., Silvestri G., Manco S. et al. Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study. J Am Acad Dermatol 2015; 72: 85–91. DOI: 10.1016/j.jaad.2014.09.038. PMID: 25440959.

Campanati A., Giannoni M., Buratti L. et al. Skin features in myotonic dystrophy type 1: an observational study. Neuromusc Disord 2015; 25: 409–413. DOI: 10.1016/j.nmd.2015.02.013. PMID: 25813338.

Win A.K., Perattur P.G., Pulido J.S. et al. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc 2012; 87: 130–135. DOI: 10.1016/j.mayocp.2011.09.005. PMID: 22237010.

Gadalla S.M., Lund M., Pfeiffer R.M. et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011; 306: 2480–2486. DOI: 10.1001/jama.2011.1796. PMID: 22166607.

Van Vliet J., Tieleman A.A., van Engelen B.G.M. et al. Hearing impairment in patients with myotonic dystrophy type 2. Neurology 2018; 90: e615–е622.10.1212. DOI: 10.1212/WNL.0000000000004963. PMID: 29343467.

Fedotov V.P., Kurbatov S.A., Ivanova E.A., et al. [Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes]. ]. Nervno-myshechnyye bolezni 2012; (3): 55–66. (In Russ.)

Logigian E.L., Ciafaloni E., Quinn L.C. et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve 2007; 35: 479–485. DOI: 10.1002/mus.20722. PMID: 17230537.

Okkersen K., Monckton D.G., Le N. et al. Brain imaging in myotonic dystrophy type 1: A systematic review. Neurology 2017; 89: 960–969. . DOI: 10.1212/WNL.0000000000004300. PMID: 28768849.

Kornblum C., Reul J., Kress W. et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol 2004; 251: 710–714. DOI: 10.1007/s00415-004-0408-1. PMID: 15311347.

Wattjes M.P., Kley R.A., Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010; 20: 2447–2460. DOI: 10.1007/s00330-010-1799-2. PMID: 20422195.

Vihola A., Bassez G., Meola G. et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003; 60: 1854–1857. PMID: 12796551.

Levisky R.B., Vianna-Morgante A.M., Frota-Pessoa O. et al. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family. . J Med Genet 1977; 14: 51–53. PMID: 839501.

Mascalchi M., Padovani R., Taiuti R., Quilici N. Syringomyelia in myotonic dystrophy due to spinal hemangioblastoma. Surg Neurol 1998; 50: 446–448. PMID: 9842869.

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DOI: http://dx.doi.org/10.25692/ACEN.2019.1.2