Genetic myopathies in adults: experience in a tertiary center in Mexico


  • Edwin Steven Vargas-Cañas Instituto Nacional de Neurología y Neurocirugía
  • Eunice Martínez-Jiménez Instituto Nacional de Neurología y Neurocirugía
  • Javier Andrés Galnares-Olalde Instituto Nacional de Neurología y Neurocirugía
  • Francisca Fernández-Valverde Instituto Nacional de Neurología y Neurocirugía
  • Adib Jorge de Sarachaga Instituto Nacional de Neurología y Neurocirugía
  • Anna Lisette Bazán-Rodríguez Instituto Nacional de Neurología y Neurocirugía
  • Edmar Benitez-Alonso Instituto Nacional de Neurología y Neurocirugía
  • Juan Carlos López-Hernández Instituto Nacional de Neurología y Neurocirugía



dystrophies, genetic, myopathies


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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How to Cite

Vargas-Cañas, E. S., Martínez-Jiménez, E., Galnares-Olalde, J. A., Fernández-Valverde, F., Jorge de Sarachaga, A., Bazán-Rodríguez, A. L., Benitez-Alonso, E., & López-Hernández, J. C. (2022). Genetic myopathies in adults: experience in a tertiary center in Mexico. Archivos De Neurociencias, 28(1).



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