Clinical characteristics of a family with myotonic dystrophy type 1 / 中华神经医学杂志

ABSTRACT

Objective To explore the clinical features of a family with myotonic dystrophy type 1 (DM1) in order to improve the knowledge of this disease.Methods Clinical data of members from the family were collected.Electrocardiogram (ECG),electromyogram (EMG) and blood biochemistry were performed in some members of the family.Characteristics of pathology and gene of the propositi were detected.Results Anticipation was found in the family which was verified as DM1.In the all 19 patients,17 had myasthenia gravis,14 had muscle atrophy,16 had myotonia,5 had complicated with cataract,and 7 had complicated with hypophrenia.The 5 patients accepted ECG all had abnormal results,3 of them had myotonic discharge and metabolic abnormalities.Pathological analysis showed the main fibers atrophy was type Ⅰ,and the protein dystrophin expression was completely in the propositi.Conclusions The clinical manifestations of patients are various.DM1 affects eye (the lens),heart (mainly the conduction system),reproductive system besides skeletal muscle.Necessary auxiliary examinations and regular follow-up should be performed to evaluate and deal with multisystemic involvement in DM1 patients.EMG and pathological results are helpful in the diagnosis.Gene analysis can verify the disease and identify subclinical patients.