Epidemiologic and phenotypic delineation of Steinert’s myotonic dystrophy

Authors

Keywords:

MYOTONIC DYSTROPHY, EIF-2 KINASE, PHENOTYPE, EPIDEMIOLOGY, NEUROMUSCULAR DISEASES.

Abstract

Introduction: Steinert’s myotonic dystrophy is a neuromuscular hereditary disease, which global prevalence is 1/8000. It has a very variable clinical expression.

Objective: to delineate the epidemiologic and phenotypic characteristics of Steinert’s myotonic dystrophy.

Methods: a descriptive research was conducted in Pinar del Rio from January 2019 to March 2021. The databases of Clinical Genetics were reviewed, making the genealogies of the individuals with a confirmed diagnosis; an active clinical survey was carried out for all of the blood relative members. Clinical-genetic history and a form including the data of the clinical examination were used as instruments.

Results: the 79,3 % of the cases were diagnosed after the study of their genealogies, where 11 families with 87 members were identified. The prevalence reached 6 and 4,1 x 10 000 inhabitants in Minas de Matahambre and Viñales municipalities respectively and according to the place of birth of these individuals, which have decreased due to the immigration to Pinar del Rio municipality. Between the clinical forms and the type of inheritance, no significant differences were found X2= 12,58 p=0,127220653. Palpebral ptosis and muscular weakness are phenotypically present in 89,6 % and 82,7 % of the individuals.

Conclusions: the epidemiologic and phenotypic delineation during the active survey in families allows carrying out the follow-up and to establish individualized actions which will result in greater satisfaction and quality of life.

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Author Biography

Deysi Licourt Otero, Centro Provincial de Genética Médica. Pinar del Río.

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

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Published

2021-08-07

How to Cite

1.
Licourt Otero D, Candelaria Gómez B, Pérez Martín MM, Hernández Triguero Y, Sainz Padrón L, Díaz Hernández IA. Epidemiologic and phenotypic delineation of Steinert’s myotonic dystrophy. Rev Ciencias Médicas [Internet]. 2021 Aug. 7 [cited 2025 Sep. 17];25(4):e5089. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/5089

Issue

Vol. 25 No. 4 (2021)

Section

ORIGINAL ARTICLES

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