Caracterización clínica y genética de miopatías distales hereditarias en una serie de pacientes colombianos

Introduction. Hereditary distal myopathies represent a heterogeneous group of rare genetic disorders characterized by progressive distal muscle weakness. Aim. The objective of this study was to describe the clinical spectrum and genetic findings in a series of patients with distal myopathy from Colombia. Patients and methods. A retrospective review of the medical records of 12 patients with distal myopathy seen at a neuromuscular center in Bogotá, Colombia, between 2015 and 2023 was performed. Clinical data, family history, diagnostic studies and genetic test results were obtained. Results. The mean age of onset was 15.7 years. Patterns of limb weakness included distal involvement in the upper and lower extremities (50%), distal involvement in the lower extremities in isolation (33.3%), and proximal and distal involvement in the upper and lower extremities (8.3%). Additional weakness was observed in the face (8.3%) and paraspinal muscles (25.0%). Creatine kinase levels were elevated in 58.3% of cases. Electromyography revealed a myopathic pattern in 91.6% of cases. Variants identified included MYH7, ANO5, TTN, HNRNPA1, DES, DYSF and CAV3 genes. Conclusion. This case series describes the clinical and genetic spectrum of inherited distal myopathies in Colombia. Findings demonstrate phenotypic and genotypic heterogeneity, with variants in genes encoding structural proteins. There is a need to expand access to genetic testing in Latin America to enable more accurate comprehensive diagnosis and treatment.