Genetic myopathies in adults: experience in a tertiary center in Mexico
DOI:
https://doi.org/10.31157/an.v28i1.403Keywords:
dystrophies, genetic, myopathiesAbstract
Background: Genetic myopathies in adults are rare and represent a diagnostic challenge. With the advent of next generation sequencing panels, these diseases have been molecularly catalogued, allowing a better approach, follow-up, prognosis and treatment.
Objective: to describe the frequency of the main clinical phenotypes of myopathy of genetic origin in adults in a tertiary care center in Mexico.
Methodology: a cross-sectional study was carried out, including all patients with a clinical diagnosis of genetic myopathy from a neuromuscular disease clinic from 2017 to 2021. Clinical and paraclinical characteristics were collected at the time of diagnosis, muscle biopsy report and genetic study.
Results: 85 patients were included. The mean age of onset of symptoms was 27, with a delay in diagnosis of 7 years. The main clinical phenotypes are limb-girdle dystrophy (28%), myotonic dystrophy type 1 (26.8%), congenital myopathy (17.1%), metabolic myopathy (9.8%), oculopharyngeal (7.3%) and facioscapulohumeral (6.1%).
Conclusion: the main myopathies of genetic origin in our population are myotonic dystrophy type 1 and limb-girdle dystrophy. Recognition of them is important for proper counseling, follow-up, prognosis, and treatment of potential associated conditions.
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September 2022-present © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.
January-September 2022 © The authors. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.
January 2014-December 2021 © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
