Clinical Features Of Children With Duchenne Muscular Dystrophy And Female Carriers

Objective To analyze the major lifetime events and clinical features of children with Duchenne muscular dystrophy(DMD) and female carriers who treated in our hospital, provided the basis for early diagnosis and treatment.Methods Two hundred and two DMD patients were diagnosed. Data of the patients were collected and analyzed the natural history of DMD, including motor, cognitive, heart and respiratory function, meanwhile the major clinical manifestations and cardiac functions of female carriers.Results Mean age of the patients’ independent ambulation was(17.50±4.84) years and the onset age was about(3.32±1.87) years. The main reasons for visiting doctors were walk slowly and frequent falls. About 45.1% patients began their first walking after 18 months old. About 94.5% patients were gastronomies muscle pseudo hypertrophy, and 72.2% patients aged from 5 to 7 years old were Gower’s sign positive. Exon deletion was the most frequent genetic mutations in these patients. 8% patients demonstrated mental retardation(Scores<70). 80 of 136 patients had abnormal electrocardiograms changes, 67 of 142 patients had abnormal electrocardiography changes. The SNIP averaged(60.12±16.96)cm H2 O in the patients of 5.0 to 12.9 years old.25.0% in Female carriers of DMD having fatigue discomfort, presence of concomitant lower extremity pain after mild activity, 46.4% carriers having palpitations, dismayed, chest tightness that happen in a quiet, after exercise and in sleeping, 56.0 % carriers have a higher level in creatine kinase than normal, that the average were 82-5144 IU / L. Conclusions The natural history of DMD children follows the unvarying rule. They usually delayed in learning walk, stair climbing problem, and walking difficulty after birth. It is very important to understand the pathological change characteristics of cardio-pulmonary function in DMD children and to diagnose and prevent early in retarding the progress of diseases and quality of life of DMD children.Female carries of DMD could have the different clinical features from mild to moderate muscle weakness to severe; It is very important to find out the carrier and give the prenatal diagnosis, and the carries who have cardiac insufficiency should be treated in time.