Alteration of the palate in myotonic dystrophy type 1. A case report

Authors

Keywords:

MYOTONIC DYSTROPHY, MAXILLA, GINGIVAL OVERGROWTH, GINGIVAL HYPERTROPHY.

Abstract

Introduction: myotonic dystrophy type 1 is a chronic, hereditary disease. It typically manifests during the third or fourth decade of life; however, phenotypic variability is broad, and it may be associated with palatal alterations unrelated to hypertrophy of the maxillary tuberosities.

Objective: to present a case of a patient with myotonic dystrophy type 1 and palatal alterations—specifically, unilateral hypertrophy of the maxillary tuberosity.

Case presentation: a 65-year-old female patient with third-degree atrioventricular block treated with a pacemaker and a medical history of hypertension, hip fracture, and cataract. Clinical signs of myotonic dystrophy type 1 are observed, including facial, palatal, and muscular abnormalities: generalized muscle weakness, myotonic phenomenon, and difficulty walking. The skin shows hyperhidrosis and hypopigmented macules. There is an increase in volume in the upper left maxilla with ulceration; diagnosis: hypertrophy of the left maxillary tuberosity, torus palatinus, and partial anodontia.

Conclusions: this case report highlights an additional palatal alteration to consider in patients with myotonic dystrophy type 1. These individuals face multiple risk factors—both biological and social—that may influence the association of both conditions.

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Author Biography

Deysi Licourt-Otero, Universidad de Ciencias Médicas de Pinar del Río. Departamento Provincial de Genética Médica. Pinar del Río, Cuba

Máster en Atención Integral al niño. Especialista de primer grado en MGI y Genética Clínica y segundo grado en Genética Clínica. Investigadora auxiliar.

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Published

2025-07-09

How to Cite

1.
Jiménez-Crespo D, Licourt-Otero D, Toledo-Toledo Z, Duarte-Rodríguez B. Alteration of the palate in myotonic dystrophy type 1. A case report. Rev Ciencias Médicas [Internet]. 2025 Jul. 9 [cited 2026 Feb. 14];29(1):a6654. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/6654