[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].

Autor:	Oliveros-Acuña N; Universidad de la Sabana, Chía, Colombia., Tafur-Gómez N; Universidad de la Sabana, Chía, Colombia., Ortiz-Corredor F; Universidad Nacional de Colombia, Bogotá DC, Colombia.; Centro de Enfermedades Neuromusculares-Instituto Roosevelt, Bogotá DC, Colombia., Castellar-Leones S; Universidad Nacional de Colombia, Bogotá DC, Colombia.; Centro de Enfermedades Neuromusculares-Instituto Roosevelt, Bogotá DC, Colombia., Rojas-García W; Fundación Universitaria de Ciencias de la Salud, Bogotá DC, Colombia., Correa-Arrieta C; Universidad de la Sabana, Chía, Colombia.; Centro de Enfermedades Neuromusculares-Instituto Roosevelt, Bogotá DC, Colombia.
Jazyk:	Spanish; Castilian
Zdroj:	Revista de neurologia [Rev Neurol] 2024 Sep 29; Vol. 79 (5), pp. 137-142.
DOI:	10.33588/rn.7905.2024230
Abstrakt:	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 Bogota, 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.
Databáze:	MEDLINE
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