Myotonic dystrophy type 1 (DM1) is a rare hereditary disease characterized by myotonic and myasthenia,which can affect multiple systems throughout the body. In order to improve the understanding of the nervous system involvement of DM1,we report a case of DM1 with mild central nervous system symptoms and obvious cerebral white matter lesions in brain imaging. The patient was a 48-year-old male,primarily presenting with muscle weakness and atrophy,accompanied by slight memory decline. The level of creatine kinase was increased;electromyography showed myogenic changes and myotonic potential and magnetic resonance imaging showed multiple white matter lesions. The diagnosis of DM1 was comfirmed by genetic testing. The patient was treated with neurotrophic and cognitive-improving drugs and was followed up for 1 year with a stable condition.
关键词
肌营养不良/肌强直/肌无力/脑白质病变/CADASIL/基因检测/MRI
Key words
Muscular dystrophy/Myotonia/Myasthenia/Cerebral white matter lesions/CADASIL/DNA testing diagnosis/Magnetic resonance imaging
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