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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