Perfil clínico y electromiográfico de las distrofias musculares en República Domincana
Date
Subject
Distrofia muscular
electromiografía
prednisona
Muscular dystrophy
electromyography
prednisone
electromiografía
prednisona
Muscular dystrophy
electromyography
prednisone
Language:
Journal Title
Journal ISSN
Volume Title
Publisher
Intituto Tecnológico de Santo Domingo (INTEC)
Introducción: Las distrofias musculares son trastornos miogénicos hereditarios caracterizados por una atrofia muscular progresiva y una debilidad de distribución y gravedad variable. La población de Republica Dominicana es fruto de una mezcla de etnias, haciéndola portadora de una herencia cromosómica y ADN diverso, siendo susceptibles a poder presentar cualquier desorden de carácter hereditario.
Material y métodos: Con una muestra de 17 pacientes obtenidos entre septiembre 2019- marzo 2020, se realizó un estudio retrospectivo, descriptivo y transversal, en el cual se hizo una revisión de los expedientes de la clínica de miopatías en la consulta de neurología pediátrica del Hospital Infantil Doctor Robert Reid Cabral, para describir el perfil clínico de los pacientes con distrofia muscular y los hallazgos de electromiografía en los casos que la misma.
Resultados: se encontró que la distribución de la edad correspondió a 5-9 años en un 53%, siendo el sexo masculino, el más frecuente. En el 70.59% presentaron antecedentes familiares de distrofia muscular. Los principales motivos de consulta fueron cansancio y caídas frecuentes.
Conclusión: En los hallazgos de electromiografía, el porcentaje de pacientes que presentó esta prueba con alteraciones fue de 88.24% y sin alteraciones el 11.76%. Esto nos demuestra, la gran utilidad de dicho estudio en el diagnóstico de las distrofias musculares en países donde no se cuenta con estudio molecular, siendo una de las pruebas esenciales en el abordaje diagnóstico de los pacientes con sospecha clínica de dichas patologías.
Introduction: Muscular dystrophies are hereditary myogenic disorders characterized by progressive muscular atrophy and weakness of variable distribution and severity. The population of the Dominican Republic is the result of a mixture of ethnic groups, making it the bearer of a diverse chromosomal inheritance and DNA, being susceptible to presenting any hereditary disorder. Methods: With a sample of 17 patients obtained between September 2019-March 2020, a retrospective, descriptive and cross-sectional study, in which a review of the files of the myopathies clinic was made in the pediatric neurology consultation of the Children's Hospital Doctor Robert Reid Cabral, to describe the clinical profile of patients with muscular dystrophy and the electromyography findings in the cases with the same. Results: The age distribution corresponded to 5-9 years; 53%, being the masculines, the most frequent sex. In 70.59%, there was a family history of muscular dystrophy. The main reasons for consultation were fatigue and frequent falls. Conclusion: In the electromyography findings, the percentage of patients who presented this test with alterations was 88.24% and 11.76% without alterations. This result shows us the great utility of said study in the workup of muscular dystrophies in countries with no availabilities for molecular studies, being one of the essential tests in the diagnostic approach of patients with clinical suspicion of said pathologies.
Introduction: Muscular dystrophies are hereditary myogenic disorders characterized by progressive muscular atrophy and weakness of variable distribution and severity. The population of the Dominican Republic is the result of a mixture of ethnic groups, making it the bearer of a diverse chromosomal inheritance and DNA, being susceptible to presenting any hereditary disorder. Methods: With a sample of 17 patients obtained between September 2019-March 2020, a retrospective, descriptive and cross-sectional study, in which a review of the files of the myopathies clinic was made in the pediatric neurology consultation of the Children's Hospital Doctor Robert Reid Cabral, to describe the clinical profile of patients with muscular dystrophy and the electromyography findings in the cases with the same. Results: The age distribution corresponded to 5-9 years; 53%, being the masculines, the most frequent sex. In 70.59%, there was a family history of muscular dystrophy. The main reasons for consultation were fatigue and frequent falls. Conclusion: In the electromyography findings, the percentage of patients who presented this test with alterations was 88.24% and 11.76% without alterations. This result shows us the great utility of said study in the workup of muscular dystrophies in countries with no availabilities for molecular studies, being one of the essential tests in the diagnostic approach of patients with clinical suspicion of said pathologies.
Description
Type
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol. 8 No. 1 (2024): Science and Health, january-march; 49-56
Ciencia y Salud; Vol. 8 Núm. 1 (2024): Ciencia y Salud, enero-marzo; 49-56
2613-8824
2613-8816
10.22206/cysa.2024.v8i1
Ciencia y Salud; Vol. 8 Núm. 1 (2024): Ciencia y Salud, enero-marzo; 49-56
2613-8824
2613-8816
10.22206/cysa.2024.v8i1