Objective To study the clinical characteristics of myotonic dystrophy. Method Patient records in West China Hospital, Sichuan University and China Biological Medicine Database (CBM-disc 1980-1999) were searched. Demographic data, clinical manifestations, laboratory findings of patients with myotonic dystrophy were analyzed. Results Of the total 97 patients, 64 cases were male, and 33 were female. Mean age was 28.5 years old. Ninety percent of patients had a family history. The frequency of symptoms in turn was myotonia (99%), muscle weakness (97%), muscle atrophy (85%), cataract (63%), hair losing or bald (57%) and gonadal atrophy (37%), sexuality disfunction (33%), heart damage (11%), intelligence impairment (11%), hypothyroid or disfunction of adrenal gland (8%), mental state disorders (8%). Conclusions In this group of patients, myotonia, muscle weakness and muscle atrophy were most common symptoms. In addition, some other systemic symptoms were common, such as cataract, hair losing, bald and gonadal atrophy. The clinical manifestations of myotonic dystrophy were complex.
