Pop Anita 1, Cornitescu M 1, Pleșca Doina Anca 1
1 “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
Abstract
Human dystrophinopathies are X-linked genetic disorders characterized by impairment in the function of dystrophin in a wide range of tissues. The identification of multiple alternative promoters explains the tissue-specific expression of the dystrophin isoforms. Beside the prominent muscular disease, cognitive impairment has been described in dystrophinopathies; however, the genotype – cognitive phenotype relationship is not yet fully clarified. The aim of the present study was to explore the impact of age and genetic lesion on the visuo-motor performance in Romanian pediatric subjects with dystrophinopathies. Duchenne and Becker muscular dystrophies pediatric patients admitted during a 12 months period in “Dr. V. Gomoiu” Children’s Hospital, Bucharest were investigated with the use of Raven Progressive Matrices Tests. Most of the studied subjects had exon deletions in the 45-51 range in the dystrophin gene. The obtained results do not support a progressive cognitive impairment in these subjects.