Report of families with Steinert´s Myotonic Dystrophy surveyed in Primary Health Care

Authors

Keywords:

MYOTONIC DYSTROPHY, PRIMARY HEALTH CARE.

Abstract

Introduction: the dystrophy miotónica of Steinert. It is an illness I inherit family with pattern of transmission dominant autosómico.

Objective: to describe families with Steinert´s Myotonic Dystrophy, surveyed in Primary Health Care.

Report of families: it is about a sample of 126 members belonging to two families, in which several of their members had been diagnosed with the entity; both families are from Pinar del Río province, Cuba. A survey was conducted during 2019, and between January and March 2020, each member of both families had their genealogies completed and their clinical characteristics evaluated; working with some variables related to the clinical types of this entity according to the generations.

Results: two families were presented through the genealogical tree, with 40 and 86 members from the municipalities of Minas de Matahambre and Pinar del Río municipalities respectively. In the first municipality, nine persons (9) were registered with the mild and classic type of the disease, of these more than 50 % did not know their condition, and 21 persons were apparently symptomatic. In the second municipality, 21 cases were evaluated some clinical characteristics of the disease, which with respect to the total number of cases surveyed represented 26,5 %.

Conclusions: it is essential to study families with Steinert's Myotonic Dystrophy, since there is a dissociation of clinical signs and variable expression of the disease. It is the Primary Health Care the setting which allows early diagnosis and multidisciplinary management of this disease.

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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 Genética Clínica y segundo grado en Genética Clínica. Investigadora y profesora Auxiliar

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Published

2020-11-08

How to Cite

1.
Licourt Otero D, González García R, Contreras Contreras Y. Report of families with Steinert´s Myotonic Dystrophy surveyed in Primary Health Care. Rev Ciencias Médicas [Internet]. 2020 Nov. 8 [cited 2025 Aug. 31];24(6):e4480. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/4480

Issue

Vol. 24 No. 6 (2020)

Section

CASE REPORTS

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