Clinical characteristics of different forms of myotonic dystrophy type 1
https://doi.org/10.17650/2073-8803-2023-18-1-22-37
Abstract
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.
About the Authors
E. K. Erokhina
N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Elizaveta Konstantinovna Erokhina
Ostrovityanova St., Moscow 117997
E. A. Melnik
N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Research Center of Neurology
Russian Federation
Russian Federation
Ostrovityanova St., Moscow 117997;
80 Volokolamskoe Shosse, Moscow 125367
D. V. Vlodavets
N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Ostrovityanova St., Moscow 117997
References
1. Zabnenkova V.V., Galeeva N.M., Chukhrova A.L. et al. Myotonic dystrophies 1 and 2: fifteen years of experience of DNA diagnostics at FSBI RCMG. Meditsinskaya genetika = Medical Genetics 2018;17(12):44–51. (In Russ.). DOI: 10.25557/2073-7998.2018.12.44-51
2. Ivanova E.O., Moskalenko A.N., Fedotova E.Yu. et al. Myotonic dystrophy: genetics and clinical polymorphism. Annaly klinicheskoy i eksperimentalnoy nevrologii = Annals of Clinical and Experimental Neurology 2019;13(1):15–25. (In Russ.). DOI: 10.25692/ACEN.2019.1.2
3. Nogovitsyna A.N. 20th anniversary of medical genetics in RS (Yakutia). Yakutskiy meditsinskiy zhurnal = Yakut Medical Journal 2009;2(26):10–3. (In Russ.)
4. Сайфуллина Е.В., Мухаметова Р.Р., Магжанов Р.В. и др. Анализ статистики диагностики миотонической дистрофии и типа в Башкортостане. Медицинский вестник Башкортостана 2016;6(66):28–31.
5. Saifullina E.V., Mukhametova R.R., Magzhanov R.V. et al. Analysis of primary diagnosis of myotonic dystrophy type I in the republic of Bashkortostan. Meditsinskiy vestnik Bashortostana = Medical Bulletin of Bashkortostan 2016;6(66):28–31. (In Russ.)
6. Alsaggaf R., Diane Marie M., Min Z. et al. Cancer risk in myotonic dystrophy type I: evidence of a role for disease severity. JNCI Cancer Spectr 2018;2(4):1–7. DOI: 10.1093/jncics/pky052
7. Angeard N., Huerta E., Jacquette A. et al. Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? Neuromusc Disord 2018;3(28):216–21. DOI: 10.1016/j.nmd.2017.12.006
8. Antonio M., Dogan C., Hamroun D. et al. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Rev Neurol 2016;10(172):572–80. DOI: 10.1016/j.neurol.2016.08.003
9. Ballester-Lopez A., Koehorst E., Linares-Pardo I. et al. Preliminary findings on CTG expansion determination in different tissues from patients with DM type1. Genes (Basel) 2020;11(11):1–8. DOI: 10.3390/genes11111321
10. Bucci E., Testa M., Licchelli L. A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre. J Neurol 2018;4(265):885–95. DOI: 10.1007/s00415-018-8773-3
11. Cabada T., Díaz J., Iridoy M. et al. Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances. Neuroradiology 2021;63(7):1019–29. DOI: 10.1007/s00234-020-02611-9
12. Campanati A., Giannoni M., Buratti L. et al. Skin features in myotonic dystrophy type 1: An observational study. Neuromusc Disord 2015;5(25):409–13. DOI: 10.1016/j.nmd.2015.02.013
13. Campbell C., Sherlock R., Jacob P. et al. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics 2004;113(4):811–6. DOI: 10.1542/peds.113.4.811
14. Campione E., Botta A., Prete M.D. et al. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. Neuromusc Disord 2017;2(27):163–9. DOI: 10.1016/j.nmd.2016.11.004
15. Dauvilliers Y.A., Laberge L. Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. Sleep Med Rev 2012;6(16): 539–45. DOI: 10.1016/j.smrv.2012.01.001
16. Douniol M., Jacquette A., Cohen D. et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Devel Med Child Neurol 2012;10(54):905–11. DOI: 10.1111/j.1469-8749.2012.04379.x
17. Douniol M., Jacquette A., Guile J.M. et al. Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.Eur Child Adolesc Psychiatry 2009;12(18):705–15. DOI: 10.1007/s00787-009-0037-4
18. Echenne B., Bassez G. Congenital and infantile myotonic dystrophy. Handbook of Clin Neurol 2013;113:1387–93. DOI: 10.1016/B978-0-444-59565-2.00009-5
19. Echenne B., Rideau A., Roubertie A. et al. Myotonic dystrophy type I in childhood. Long-term evolution in patients surviving the neonatal period. Eur J Paediatric Neurol 2008;3(12):210–23. DOI: 10.1016/j.ejpn.2007.07.014
20. Ekström A.B., Tulinius M., Sjöström A. et al. Visual function in congenital and childhood myotonic dystrophy type 1. Ophthalmology 2010;5(117):976–82. DOI: 10.1016/j.ophtha.2010.01.055
21. Fontinha C., Engvall M., Sjögreen L. et al. Occlusal traits and longitudinal dental changes in children and adolescents with congenital or childhood onset myotonic dystrophy. Eur J Orthodontics 2020:1–7. DOI: 10.1093/ejo/cjaa068
22. Gadalla S.M.J.E., Hilbert W.B. Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. Eur J Neurol 2017;5(24):713–8. DOI: 10.1111/ene.13276
23. Gagnon C., Kierkegaard M., Blackburn C. et al. Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review. Dev Med Child Neurol 2017;3(59):291–6. DOI: 10.1111/dmcn.13282
24. Hahn C., Salajegheh M.K. Myotonic disorders: A review article. Iran J Neurol 2016;15(1):46–53.
25. Heskamp L., Nimwegen M., Ploegmakers M.J. et al. Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. Neurology 2019. DOI: 10.1212/WNL.0000000000007648
26. Hilbert J.E., Ashizawa T., Day J.W. et al. diagnostic odyssey of patients with myotonic dystrophy. J Neurol 2013;260(10). DOI: 10.1007/s00415-013-6993-0
27. Ho G., Cardamone M., Farrar M. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr 2015;4(4):66. DOI: 10.5409/wjcp.v4.i4.66
28. Ho G., Carey K.A., Cardamone M. et al. Myotonic dystrophy type 1: Clinical manifestations in children and adolescents. Arch Dis Childhood 2019;1(104):48–52. DOI: 10.1136/archdischild-2018-314837
29. Itoh H., Hisamatsu T., Tamura T. et al. Cardiac conduction disorders as markers of cardiac events in myotonic dystrophy type 1. J Am Heart Assoc 2020;17(9):e015709. DOI: 10.1161/JAHA.119.015709
30. Johnson N.E. Myotonic muscular dystrophies. Continuum Lifelong Learn Neurol 2019;6(25):1682–95. DOI: 10.1212/CON.0000000000000793
31. Johnson N.E., Butterfield R.J., Mayne K. et al. Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program. Neurology 2021;96(7): e1045–e1053. DOI: 10.1212/WNL.0000000000011425
32. Joosten I.B.T., Lohuizen RV., Uijl D.W. et al. Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1. Europace 2021;2(23):298–304. DOI: 10.1093/europace/euaa256
33. Joosten I.B.T., Hellebrekers D.M.E.I., Greef B.T.A. et al. Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. Eur J Hum Genet 2020;28(7):956–62. DOI: 10.1038/s41431-020-0601-4
34. Kentley J., Nasir S., Lloyd K. et al. Multiple pilomatrixomas as a presentation of myotonic dystrophy. Clin Exp Dermatol 2019;44(4):e149–e150. DOI: 10.1111/ced.13946
35. Kim W., Jeong J.Y., Doo S.W. et al. Myotonic dystrophy type 1 presenting as male infertility. Korean J Urol 2012;53(2):134–6. DOI: 10.4111/kju.2012.53.2.134
36. Labayru G., Aliri J., Zulaica M. et al. Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study. J Neuropsychol 2020;1(14):121–34. DOI: 10.1111/jnp.12192
37. Lagrue E., Dogan C., De Antonio M. et al. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. Neurology 2019;8(92):E852–E865. DOI: 10.1212/WNL.0000000000006948
38. Leddy S., Serra L., Esposito D. et al. Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis. NeuroImage 2021;102562:29. DOI: 10.1016/j.nicl.2021.102562
39. Lindberg C., Bjerkne F. Prevalence of myotonic dystrophy type 1 in adults in western Sweden. Neuromusc Disord 2017;27(2):159–62. DOI: 10.1016/j.nmd.2016.12.005
40. Liu J., Guo Z.N., Yan X.L. et al. Brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1. Front Aging Neurosci 2021;13:786. DOI: 10.3389/fnagi.2021.755392
41. Marcovala J., Olivéb M., Bonfill-Ortía M. et al. Cutaneous neoplasms in myotonic dystrophy type 1. Dermatology 2016;232(6):700–3. DOI: 10.1159/000456074
42. Mathieu J., Prévost C. Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. Neuromusc Disord 2012;22(11):974–9. DOI: 10.1016/j.nmd.2012.05.017
43. Morales F., Couto J.M., Higham C.F. et al. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet 2012;16(21):3558–67. DOI: 10.1093/hmg/dds185
44. Morton A. Myotonic disorders and pregnancy. Obstet Med 2020;13(1):14–9. DOI: 10.1177/1753495X18824238
45. Okkersen K., Buskes M., Groenewoud J. et al. The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis. Elsevier Ltd, 2017. Pp. 143–155. DOI: 10.1016/j.cortex.2017.08.008
46. Pagoulatos D., Kapsala Z., Makri O.E. et al. Christmas tree cataract and myotonic dystrophy type 1. Eye (Basingstoke) 2018;11(32):1794, 1795. DOI: 10.1038/s41433-018-0161-9
47. Passeri E., Bugiardini E., Sansone V. A. et al. Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies. J Neurol Sci 2013;331(1–2):132–5. DOI: 10.1016/j.jns.2013.06.008
48. Peric S., Stojanovic V.R., Nikolic A. et al. Peripheral neuropathy in patients with myotonic dystrophy type 1. Neurol Res 2013;4(35):331–5. DOI: 10.1179/1743132812Y.0000000144
49. Perna A., Maccora D., Rossi S. et al. High prevalence and genderrelated differences of gastrointestinal manifestations in a cohort of DM1 patients: A perspective, cross-sectional study. Front Neurol 2020;11: 1–9. DOI: 10.3389/fneur.2020.00394
50. Pešović J., Perić S., Brkušanin M. et al. Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. Neurogenetics 2017;4(18):207–18. DOI: 10.3390/ijms23010354
51. Petri H., Vissing J., Witting N. et al. Cardiac manifestations of myotonic dystrophy type 1. Int J Cardiol 2012;160(2):82–8. DOI: 10.1016/j.ijcard.2011.08.037
52. Prasad M., Glueck M., Ceballos-Saenz D. et al. A phenotypic description of congenital myotonic dystrophy using PhenoStacks. Neuromusc Dis 2019;3(6):341–7. DOI: 10.3233/JND-180345
53. Pratte A., Prévost C., Puymirat J. et al. Anticipation in myotonic dystrophy type 1 parents with small CTG expansions. Am J Med Genet Part A 2015;167(4):708–14. DOI: 10.1002/ajmg.a.36950
54. Quera Salva M.A., Blumen M., Jacquette A. et al. Sleep disorders in childhood-onset myotonic dystrophy type 1. Neuromusc Dis 2006;9–10(16):564–70. DOI: 10.1016/j.nmd.2006.06.007
55. Radhika A.G., Vaid N.B., Radhakrishnan G. et al. Myotonic dystrophy with pregnancy. J Indian Med Assoc 2007;105(5):269–70.
56. Romigi A., Albanese M., Liguori C. et al. Sleep-wake cycle and daytime sleepiness in the myotonic dystrophies. J Neurodegenerative Dis 2013:1–13. DOI: 10.1155/2013/692026
57. Romigi A., Izzi F., Pisani V. et al. Sleep disorders in adult-onset myotonic dystrophy type 1: A controlled polysomnographic study. Eur J Neurol 2011;9(18):1139–45. DOI: 10.1111/j.1468-1331.2011.03352.x
58. Sansone V.A. The dystrophic and nondystrophic myotonias. Continuum Lifelong Learn Neurol 2016;6(22):1889–915. DOI: 10.1212/CON.0000000000000414
59. Savić Pavićević D., Miladinović J., Brkušanin M. et al. Molecular genetics and genetic testing in myotonic dystrophy type 1. BioMed Res Int 2013;1–13. DOI: 10.1155/2013/391821
60. Shinar S., Balakumar P., Shah V. et al. Fetal macrocephaly: A novel sonographic finding in congenital myotonic dystrophy. AJP Rep 2020;10(3):294–9. DOI: 10.1055/s-0040-1716742
61. Simoncini C., Spadoni, G., Lai, E. et al. Central nervous system involvement as outcome measure for clinical trials efficacy in myotonic dystrophy type 1. Front Neurol 2020;(11):1–16. DOI: 10.3389/fneur.2020.00624
62. Sjögreen L., Mårtensson Å., Ekström A. B. Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1. Int J Lang Comm Disord 2018;3(53):576–83. DOI: 10.1111/1460-6984.12370
63. Spaziani M., Semeraro A., Bucci E., et al. Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study. J Endocrinol Invest 2020;43(5):663–75. DOI: 10.1007/s40618-019-01156-w
64. Stokes M., Varughese N., Iannaccone S. et al. Clinical and genetic characteristics of childhood-onset myotonic dystrophy. Muscle Nerve 2019;6(60):732–8. DOI: 10.1002/mus.26716
65. Subramony S.H., Wymer J.P., Pinto B.S. et al. Sleep disorders in myotonic dystrophies. Muscle Nerve 2020;3(62):309–20. DOI: 10.1002/mus.26866
66. Sugie K., Sugie M., Taoka T. et al. Characteristic MRI findings of upper limb muscle involvement in myotonic dystrophy type 1. PLoS One 2015;10(4). DOI: 10.1371/journal.pone.0125051
67. Thornton C.A. Myotonic dystrophy. Neurol Clin 2014;32(3):705–19. DOI: 10.1016/j.ncl.2014.04.011
68. Velden B.G., Okkersen K., Kessels R.P. et al. Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis. J Affect Disord 2019;250:260–9. DOI: 10.1016/j.jad.2019.03.036
69. Wang Y., Pfeiffer R.M., Alsaggaf R., et al. Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. Int J Cancer 2018;142(6):1174–81. DOI: 10.1002/ijc.31143
70. Wenninger S., Montagnese F., Schoser B. Core clinical phenotypes in myotonic dystrophies. Front Neurol 2018;9:1–9. DOI: 10.3389/fneur.2018.00303
71. Woo J., Lee H.W., Park J.S. Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1. J Clin Neurosci 2019;68:92–6. DOI: 10.1016/j.jocn.2019.07.029
72. Yu H., Laberge L., Jaussent I. et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: A case-control study. Sleep 2011;2(34):165–70. DOI: 10.1093/sleep/34.2.165
73. 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;1(72):85–91. DOI: 10.1016/j.jaad.2014.09.038
74. Zapata-Aldana E., Ceballos-Sáenz D., Hicks R. et al. Prenatal, neonatal, and early childhood features in congenital myotonic dystrophy. Neuromusc Dis 2018;3(5):331–40. DOI: 10.3233/JND-170277
Review
For citations:
Erokhina E.K., Melnik E.A., Vlodavets D.V. Clinical characteristics of different forms of myotonic dystrophy type 1. Russian Journal of Child Neurology. 2023;18(1):22-37. (In Russ.) https://doi.org/10.17650/2073-8803-2023-18-1-22-37
Views:
608
Email this article 