Clinical and genetic findings, factors affecting ambulatory, cardiac and respiratory complications in children with duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by a mutation in the dystrophin gene on the X chromosome and is the most common form of childhood onset muscular dystrophy. Most patients exhibit signs of progressive muscle weakness before six years; around thirteen years individuals lose the ability to walk. Late symptoms include contractures, scoliosis, progressive respiratory and cardiac dysfunctions. DMD has not curable yet. Through the exact mechanism is unknown, corticosteroids are associated with improved muscle strenght, prolonged independent ambulation and delayed cardiac and respiratory complications. Objective: This retrospective study was conducted between December 2015 and January 2017 to assess the clinical findings, results of genetic study, effective factors on cardiac and respiratory complications and treatment modalities in Duchenne muscular dystrophy patients. Material and Methods:From a total of 180 patients, the sample size for this study included 66 males after applying the inclusion criteria. Their file records have been examined, they called fort he last examinations and last clinical status, treatment modalities was recorded. Results:Loss of ambulance is delayed with regular corticosteroid treatment. Daily steroid use reduced nonambulatory risk, respiratory and cardiac complications and decreased risk of scoliosis. Normal dose of steroids was found to be more effective in reducing being nonambulatory, cardiac complications and scoliosis risk, and early onset of treatment does not affect complications. It was found that high doses and daytime steroid usage increased risk of fracture and osteoporosis. Conclusion: Contrary to the findings in the literature, no effect of regular and early use of steroid treatment on complication development was found. However, this may be due to low patient numbers for statistical evaluation. There is a need for long-term and broad-based studies to better assess the effects of corticosteroids.