Genetic and Mental Evaluation With Dystrophinopathy Patients

Abstract

In this study we have evaluated 27 patients with Duchenne Muscular Dystrophy (DMD) and 12 patients with Becker Muscular Dystrophy (BMD) from the aspect of de/etions indystrophin gene and mentol status. The mean age for DMD patients was 9.65±3.05 (6-18) and 19.71±9.74 (10-48) for BMD patients. For deletion analysis we assessed totally 19 exons lokalized to the center and 5' end of the dystrophin gene. Total deletion ratio was 78%. Each of the patients was evaluated from mentol aspects and correlated with genetic information. The Wechsler lntelligence Scale was used for mentol assesment45.83% of DMD patients and, 12.5% of BMD patients and 3 7.5% of total patient group were evaluated as mentally retarded . Altought we could not determine a specifıc gene region responsible for mentally retardation, in 9 of 10 retarded patients the deletions were localized in center of the gene.