ArticleRevista de neurologia2024
[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].
Article in Revista de neurologia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionHereditary distal myopathies represent a heterogeneous group of rare genetic disorders characterized by progressive distal muscle weakness.
aimThe 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
methodsA 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.
resultsThe 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.
conclusionThis 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.
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