CNS symptoms in myotonic dystrophy type 1 (DM1): report of three cases

Authors

  • Celia Jara-Velásquez Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. https://orcid.org/0009-0005-2129-3492
  • Kattia Alfaro-Vásquez Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. https://orcid.org/0009-0000-6819-0144
  • Gabriela Espinoza-Morón Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. https://orcid.org/0009-0008-5465-759X
  • Richard S. Rodriguez Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. https://orcid.org/0000-0002-0088-653X
  • Andrea Rivera-Valdivia Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. https://orcid.org/0000-0002-3911-9776
  • Milagros Galecio-Castillo Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.
  • Denisse Chacon Zuñiga Departamento de Epilepsia, Instituto Nacional de Ciencias Neurológicas, Lima, Perú https://orcid.org/0009-0006-2044-6183
  • Elison Sarapura-Castro Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. https://orcid.org/0000-0002-1562-3062
  • Mario Cornejo-Olivas Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. https://orcid.org/0000-0001-6313-5680

DOI:

https://doi.org/10.20453/rnp.v88i4.6256

Keywords:

myotonic dystrophy type 1, cognitive dysfunction, Steinert disease, epilepsy, magnetic resonance imaging

Abstract

Myotonic dystrophy type 1 is an autosomal dominant hereditary neuromuscular disorder with systemic manifestations. It is characterized by progressive muscle weakness, myotonia, and cataracts, alongside variable involvement of the cardiovascular, endocrine, and central nervous systems. This report highlights three cases of myotonic dystrophy type 1 with significant central nervous system involvement, presenting with structural changes in brain MRI, cognitive decline, epilepsy, and behavioral changes. These cases underscore the importance of a multidisciplinary evaluation, including neuropsychiatric assessments and neuroimaging studies, as an integral part of the comprehensive management of these patients.

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Author Biographies

Celia Jara-Velásquez, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú.

Médica neurologa e investigadora

Kattia Alfaro-Vásquez, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú.

Médica neurologa e investigadora

Gabriela Espinoza-Morón, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Estudiante de medicina e investigadora

Richard S. Rodriguez, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú.

Médico genetista e investigador

Andrea Rivera-Valdivia, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Medica neurologa e investigadora

Milagros Galecio-Castillo, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Médica neurologa e investigadora

Denisse Chacon Zuñiga, Departamento de Epilepsia, Instituto Nacional de Ciencias Neurológicas, Lima, Perú

Médico neurologa e investigadora

Elison Sarapura-Castro, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Médico neurologo e investigador

Mario Cornejo-Olivas, Instituto Nacional de Ciencias Neurológicas, Centro de Investigación Básica en Neurogenética. Lima, Perú. / Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Médico neurologo y docente investigador

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Published

2025-12-18

How to Cite

1.
Jara-Velásquez C, Alfaro-Vásquez K, Espinoza-Morón G, Rodriguez RS, Rivera-Valdivia A, Galecio-Castillo M, et al. CNS symptoms in myotonic dystrophy type 1 (DM1): report of three cases . Rev Neuropsiquiatr [Internet]. 2025 Dec. 18 [cited 2026 Feb. 20];88(4):420-9. Available from: https://revistas.upch.edu.pe/index.php/RNP/article/view/6256

Issue

Vol. 88 No. 4 (2025): Octubre-diciembre

Section

CASE REPORT

License

Copyright (c) 2025 Andrea Rivera-Valdivia, Celia Jara Velásquez, Kattia Alfaro Vásquez, Gabriela Espinoza Morón, Richard Rodriguez Quispe, Milagros Galecio Castillo, Denisse Chacon Zuñiga, Elison Sarapura Castro, Mario Cornejo Olivas

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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