ABSTRACT
Duchenne and Becker muscular dystrophies [DMD and BMD] are one of the most common X-Linked disorder in human which are caused by mutations of the dystrophin gene located on the X chromosome. This study was carried out in both Kuwait and Egypt. Fifty two patients with dystrophinopathies were examined from both Kuwait and Egypt in order to [1] study some characteristic features of those patients and [2] identify gene deletions among them. Twenty six patients were selected randomly from both Kuwait and Egypt A special questionnaire including all relevant data was designed for this study. All patients were subjected to all relevant investigations including DNA analysis and muscle biopsy analyzed with three dystrophin monoclonal antibodies. The statistical package for social science [SPSS], Z test, Chi square test and Student t test were used for statistical analysis. There was a significant difference between the Kuwaiti and Egyptian patients regarding maternal age [P<0.005] but not for paternal age. The onset of walking was delayed in 40.6% of the cases while the onset of weakness was noticed in 19.3% of the Kuwaiti patients before 2 years of age. Wheel chair dependency was observed in 88.8% between the age 7-12 years. In both groups 82% have an IQ above 70 and 26% had lQ above 100. ECG abnormalities were seen in 77.8% of the patients. DNA analysis showed that 71.4% of the patients had a deletion in the gene while 28.6% had no deletion. Two deleted exons were found in 24.5% and 14.3% had only one deleted exon. The most common deleted exons among Kuwaiti patients were 8, 45, 48 while exons 19, 45, 48 and 51 were deleted more commonly in the Egyptians. Better identification, neonatal screening and DNA examination are urgently needed for precise diagnosis. Proper genetic counseling and prenatal diagnosis are strongly recommended for prevention and management