Clinical and genetic characterization of Duchenne Muscular Dystrophy

Abstract

Introduction: people with disabilities represent around 10% of the population. The most common of the muscular dystrophies is Duchenne, a recessive X-linked disorder that affects 1 in 3,500 males. Objectives: characterize the clinical and genetic findings of Duchenne muscular dystrophy. Methods: an observational and descriptive study was carried out in a series of 9 patients evaluated at the Department of Medical Genetics of Pinar del Río, Cuba in the period from January 2014 to December 2023. Results: 78% of the total cases were diagnosed between 5 and 8 years of age, in 66.6% of the patients a family history of the disease was reported. Delayed psychomotor development and gastrocnemius pseudohypertrophy were highlighted in 100% of cases followed by gait disturbance, Gowers sign and hyporeflexia in 88.8% of patients. In 77.7% of the patients, deletion-type mutations were identified in some of the exons analyzed. Conclusions: The clinical and molecular characterization of the disease allows the diagnosis to be made and subsequently provides tools to primary care professionals to provide assistance, coordinate care with appropriate specialists, provide genetic counseling not only to the index case but also to the families to screen for female carriers..