Myotonic dystrophy

Myotonic dystrophy is a group of inherited myopathy characterized by typical clinical symptoms of myotonia and muscular weakness. Due to the great difference in individual clinical manifestations and severity of symptoms, it is often difficult to make early clinical diagnosis by clinicians. Therefore, standardized diagnostic awareness and pathway should be attached great importance. To some extent, combining the patient′s extra muscular symptoms can help clinicians to reduce the rate of missed diagnosis. With the development of muscle biopsy and the improvement of gene technology, there is no problem with the diagnosis, through electromyography, pathology and gene examination. At present, symptomatic treatment and symptom management are still the main treatments in the world. Key words: Myotonic dystrophy; Myotonia; Muscular weakness; Diagnosis; Treatment