Registro de pacientes con distrofinopatías en Colombia

Abstract

INTRODUCTION. Duchenne muscular dystrophy is a neuromuscular disease with X-linked recessive inheritance that affects 1 in 3, 500 live births. It is caused by mutations in the DMD gene coding for dystrophin. It is characterized by typical variable clinical manifestations of progressive proximal muscular dystrophy. OBJECTIVE. Perform the first registry in Colombia of patients identified with dystrophinopathies, taking into account clinical and paraclinical characteristics and causal mutations of this disease. METHODOLOGY It is a transversal, descriptive study of the review of medical records of patients diagnosed with DMD treated at the Genetics unit at the University of Rosario during the years 2006-2015. RESULTS 99 patients were identified, of which 56 (56. 56%) correspond to Duchenne phenotype and 12 (12. 12%) to Becker. It was not possible to classify 31 patients (31. 3%) due to lack of clinical data. The age of onset of symptoms was on average 4. 41 years. The most frequent mutations were deletions (69%), followed by point mutations (14%), duplication (11%) and other mutations (4%). CONCLUSIONS This registry of dystrophinopathies is the first reported in Colombia and the starting point to determine the incidence of the disease, clinical and molecular characterization of patients, ensuring timely access to new medical treatments precision to improve the quality of life of patients and their families