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.
Objective To study the clinical features and prognosis of recurrent pneumonia associated with myotonic dystrophy. Methods A case of recurrent pneumonia related to myotonic dystrophy was retrospectively analyzed and the related literatures were reviewed. Results The patient was a 32-year-old man with recurrent fever, cough and expectoration for more than 10 years. He was diagnosed as " pneumonia” in the local hospital at every relapse, and improved after antibiotic therapy. Nine months ago, the symptoms of fever, cough and expectoration aggravated. The chest X-ray examination showed consolidation in right middle and lower lobe. After 2-month antibiotic treatment, the symptoms relieved. Then he was admitted to Beijing Anzhen Hospital for further diagnosis and treatment. Physical examination revealed " hatchet-faced” appearance with neck muscles atrophy and slightly flexion. Bilateral sternocleidomastoid muscle symmetrically rised. Few moist rales of bilateral lower lung were found. Lateral elbow and femoral quadriceps muscles symmetrically rised. The muscle strength of his four distal limbs became weakness, and the squat and standing movement was difficult. Chest CT showed pathy effusion and consolidation in right middle lobe and the lower left lobe. Electromyography showed myogenic damage in left extensor digitorum, left deltoid, right anterior tibial muscle, femoral quadriceps muscle, and left sternocleidomastoid, and spontaneous myotonic discharges in left extensor digitorum, right anterior tibial muscle and left sternocleidomastoid. Pathologic examination of left femoral quadriceps muscle showed inflammatory myopathy. The final diagnosis was myotonic dystrophy associated recurrent pneumonia. Two articles revolving 2 cases were retrieved in English literature. No case was reported in Chinese literature. Conclusion The possibility of myotonic dystrophy should be considered in the case of recurrent pneumonia complicated with muscle atrophy, weakness and myotonia.