Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient

二维码有效期 120s

摘要Myotonic dystrophy type 1 (DM1) is the most common disease causing muscle weakness and atrophy in adults,[1]The prevalence of DM1 in China is not clear.DM1 is an autosomal dominant genetic disorder associated with the cytosine-thymine-guanine (CTG) repeat expansion in 3'untranslated region in dystrophia myotonica-protein kinase (DMPK) gene on chromosome 19q13.3.In DM1, CTG pathological repeat numbers are more than 50.The size of CTG repeat expansion is associated with the time of clinical phenotypes onset and severity.[1-3] The coexistence of DM1 and syringomyelia is rare.Here, we report DM1 coexisting with syringomyelia in a Chinese male patient.

作者单位 Department of Geriatrics, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China ^[1] Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong University,Jinan, Shandong 250021, China ^[2] Department of Neurology and Neuromuscular Center, Qilu Hospital of Shandong University, Jinan,Shandong 250012, China ^[3]

关键词 Myotonic Dystrophy Type 1 Peripheral Neuropathy Syringomyelia

栏目名称 Clinical Practice

DOI 10.4103/0366-6999.176070

发布时间 2016-03-22

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