DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY BY MLPA AND EVALUATING THE EFFECT OF NEGATIVE SMOKING ON PATIENT`S BEHAVIOR

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular degenerative disorders affecting males and very rarely females It is caused by alteration of the gene responsible for dystrophin protein, results in loss of function of the DMD protein. DMD gene is one of the largest gene that contains 79 exons located in Xp21. The disease is diagnosed firstly by progressive muscle weakness usually appears during childhood. It causes disability in walking as well as Gowers' sign that indicates proximal muscles weakness. Multiplex Ligation-dependent Probe Amplification (MLPA) had been reported to be a simple, rapid and reliable tool for detection of deletions and duplications in the DMD gene that allows quantification of multiplex copy number of specific target sequences. Attention deficit hyperactivity disorder (ADHD) is a highly widespread neuropsychiatric disorder that continues into adulthood in a large number of affected children of both genders. Maternal tobacco smoking during pregnancy has negative effects on characteristics of the child birth and perinatal health as increasing the risk of prematurity and low birth weight. Children whose mothers smoke may have elevated levels of substance-related and behavioural problems specially symptoms of ADHD. The aim of this study was to characterize the mutational pattern among DMD patients by MLPA technique and to study the association of exposure to tobacco smoking and behavioral disorders among DMD patients. The study was carried out on 30 DMD patients referred from Neurogenetics Clinic, National Research Centre (NRC), Cairo, Egypt. The diagnosis of DMD was based on full family history taking including Pedigree analysis, tobacco smoking questionnaire, and