Myotonic Dystrophy (10 Cases Report)

Background and objective:Myotonic dystrophy (DM) is a dominantly inherited neurodegenerative disorder which can influence multiple systems. The predominant symptoms in classic DM are mytonia, progressive muscle weakness, and muscle atrophy. Other system symptoms include cataracts at an early age, arrhythmias, minor intellectual deficits, early frontal balding, insulin insensitivity and so on. This disease is rare, and it can be misdiagnosed as other diseases. We report 10 cases of "Myotonic dystrophy" in our hospital, and discuss the manifestations of this disease. Our aim is to improve recognition and reduce misdiagnosis to DM.Methods:we searched the database in our hospital between 2000-2010 and found 10 records diagnosed as DM.Result:All patients have the muscle weakness.80%of patients have muscle atrophy.60%of patients have muscle myotonia.60%of patients have positive family history. The characteristic myotonic discharges occur as bursts of repetitive potentials on insertion of the needle in all of the patients. Serum r-glutamyltranspeptidase elevated in 70%of patients.60%of patients have cardiac conduction disturbances. Serum creatine kinase elevated in 60%of patients.40%of patients have cataracts.20% of patients have frontal balding. There are rows of internal nuclei in three patients muscle biopsy.Conclusion:DM influence multi-system organ and the manifestations are variable. Some symptoms aren't typical and can be misdiagnosed as other muscle diseases. So we need improve the recognition of this disease, and can identify the disease by gene tools.