Orofacial disorders in myotonic dystrophy type 1
Keywords:
ANOMALÍAS DE LA BOCA; DISTROFIA MIOTÓNICA; EXPRESIÓN FACIAL., MOUTH ABNORMALITIES; MYOTONIC DYSTROPHY; FACIAL EXPRESSION., ANORMALIDADES DA BOCA; DISTROFIA MIOTÔNICA; WAREHOUSE; EXPRESSÃO FACIAL.Abstract
Introduction: myotonic dystrophy type 1 is a genetic disease in which there are orofacial disorders with variable expression between the different clinical forms of the disease.
Aim: describe orofacial disorders in myotonic dystrophy type 1.
Methods: a descriptive, cross-sectional and retrospective study was carried out in the provincial department of Medical Genetics, of the "Pepe Portilla" Pediatric Hospital in the province of Pinar del Río, from January 2019 to December 2023. We worked directly with a population of 97 patients, without sampling.The documentary review and the physical examination allowed obtaining information that gave rise to the variables analyzed, using descriptive statistical methods..
Results: a high-arched palate was common in all clinical forms; however, upper lip eversion was less common. Incomplete mouth closure predominated in the most severe clinical forms of the disease, while the myopathic face was more common in all clinical forms, except in the late clinical form, where sunken cheeks predominated. Frontal baldness was revealed in patients with the infantile clinical form..
Conclusions: orofacial disorders in DM1 are common and cause not only aesthetic alterations but also disruptions in essential processes such as chewing and swallowing. Early identification and treatment are essential to prevent complications affecting various organs and systems.
Downloads
References
1. MYOTONIC DYSTROPHY 1; DM1 [Internet]. Baltimore: Johns Hopkins University; 2020 [consultado 20/03/2025]. Disponible en: https://www.omim.org/entry/160900.
2. Bird TD. Myotonic Dystrophy Type 1 [Internet]. Seattle (WA): University of Washington; 2021 [citado 20/03/2025]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1165/pdf/Bookshelf_NBK1165.pdf.
3. Gonzalez Perez P, D’Ambrosio ES, Picher Martel V, Chuang K, David WS, Amato AA. Parent-of-origin effect on the age at Symptom Onset in Myotonic dystrophy type 2. Neurol Genet [Internet]. 2023 [consultado 08/03/2025]; 9(3): [aprox. 8 p.]. Disponible en: https://doi.org/10.1212/NXG.0000000000200073
4. Marín JP, Sienes Bailo P, Lahoz Alonso R, Capablo Liesa JL, Gazulla Abio J, Gimenez Muñoz JA, et al. Distrofia miotónica tipo 1:13 años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo. Neurología [Internet]. 2023 [consultado 09/01/2025]; 38(8): [aprox. 11p.]. Disponible en: https://www.elsevier.es/es-revista-neurologia-english-edition--495-articulo-myotonic-dystrophy-type-1-13-S2173580823000408
5. Thornton CA. Myotonic Dystrophy. Neurol Clin [Internet]. 2014 [consultado 09/01/2025]; 32(3): [aprox. 15p.]. Disponible en: https://doi.org/10.1016/j.ncl.2014.04.011
6. Johnson NE. Myotonic Muscular Dystrophies. Continuum[Internet]. 2019 [consultado 09/12/2024]; 25(6): 1682-1695. Disponible en: https://doi.org/10.1212/CON.0000000000000793
7. Rimoldi M, Lucchiari S, Pagliarani S, Meola G, Pietro Comi G, Abati E. Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy. Neurol Sci [Internet]. 2025 [consultado 09/01/2025]; 46(4): 1599-1616. Disponible en: https://doi.org/10.1007/s10072-024-07826-9
8. World Medical Association. Declaration of Helsinki. Asociación Médica Mundial. Principios éticos para la investigación médica con participantes humanos. JAMA. 2024; 333(1): e21972. Disponible en: https://jamanetwork-com.translate.goog/journals/jama/fullarticle/2825290?_x_tr_sl=en&_x_tr_tl=es&_x_tr_hl=es&_x_tr_pto=tc
9. Sánchez-Tejerina D, Palomino Doza J, Valverde-Gómez M, Ruiz-Curiel A, Salguero-Bodes R, Hernández-Voth A, et al. Distrofia miotónica de tipo 1: una serie de 107 pacientes. Rev Neurol [Internet]. 2021 [consultado 09/01/2025]; 73(10): 351-7. Disponible en: https://files.neurologia.com/journal/RN/73/10/10.33588/rn.7310.2021366/pdf/a59db3b554dab52c735f8fe0ec82fe38.pdf
10. Mira Escolano MP, Palomar Rodríguez J. Distrofia Miotónica tipo 1 en la región de Murcia. Estudio a partir del Sistema de Información de las Enfermedades Raras (SIER). Boletin Epidemiológico de Murcia [Internet]. 2023 [consultado 09/01/2025]; 43: 83 - 95. Disponible en: https://sms.carm.es/ricsmur/bitstream/handle/123456789/10804/bem.2023.43.875.pdf?sequence=3&isAllowed=y.
11. De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S, Bassez G; French Myotonic Dystrophy Clinical Network. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Rev Neurol (Paris) [Internet]. 2016 Oct [consultado 09/01/2025]; 172(10): 572-580. Disponible en: https://sci-hub.ru/https://doi.org/10.1016/j.neurol.2016.08.003.
12. Ho G, Carey KA, Cardamone M, Farrar MA. Myotonic dystrophy type 1: clinical manifestations in children and adolescents. Arch Dis Child [Internet]. 2018 [consultado 09/03/2025]; 104(1): 48-52. Disponible en: https://sci-hub.st/10.1136/archdischild-2018-314837.
13. Papaefthymiou P, Kekou K, Özdemir F. Orofacial Manifestations Associated with Muscular Dystrophies: A Review. Turk J Orthod [Internet]. 2022 [consultado 08/03/2025]; 35(1): 67-73. Disponible en: https://doi.org/10.5152/TurkJOrthod.2021.21021
14. Fontinha C, Engvall M, Sjögreen L, Kiliaridis S. Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy. Eur J Orthod. [Internet]. 2018 [consultado 08/03/2025]; 40(5): 544-548. Disponible en: https://scispace.com/pdf/craniofacial-morphology-and-growth-in-young-patients-with-16m1pkgmun.pdf
15. Evlice B, Koç F, Duyan H, Soydan ÇD. Three- dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1. Turk J Med Sci [Internet]. 2021 [consultado 08/03/2025]; 51(6): 3022-3029. Disponible en: https://doi.org/10.3906/sag-2105-106
16. Evlice B, Duyan Yuksel H, Evlice A, Koc F. The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis. J Oral Rehabil. [Internet]. 2023 [consultado 08/03/2025]; 50: 958-964. Disponible en: https://doi.org/10.1111/joor.13533
17. Ayyıldız E, Orhan M, Bahşi İ, Yalçin ED. Morphometric evaluation of the temporomandibular joint on cone- beam computed tomography. Surg Radiol Anat [Internet]. 2021 [consultado 08/03/2025]; 43(6): 975-996. Disponible en: https://doi.org/10.1007/s00276-020-02617-1
18. Polat S, Öksüzler FY, Öksüzler M, et al. Temporomandibular joint and masticatory muscles morphometry and morphology in healthy subjects and individuals with temporomandibular dysfunction an anatomical, radiological, and machine learning application study. Medicine [Internet]. 2024; [consultado 08/03/2025]; 103(50): e40846. Disponible en: http://dx.doi.org/10.1097/MD.0000000000040846
19. Chawla T, Reddy N, Jankar R, Vengalil S, Polavarapu K, Arunachal G, et al. Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort. Neurology India [Internet]. 2024 [consultado 30/01/2025]; 72(1): 83-89. Disponible en: https://journals.lww.com/neur/fulltext/2024/01000/myotonic_dystrophy_type_1__dm1___clinical.17.aspx.
20. Cascais I, Garrido C, Morais L, Amorim R, Lima R, Ferreira Mansilha H, et al. Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital. Eur J Paediatr Neurol [Internet]. 2024 [consultado 09/01/2025]; 48: 85-90. Disponible en: https://doi.org/10.1016/j.ejpn.2023.12.001
Additional Files
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Delvis Jiménez Crespo, Deysi Licourt Otero, Zonia Toledo Toledo, Laura Elena Masa Fleitas
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/
