Myotonic Dystrophy Type I with Syringomyelia in a Young Patient  

作　　者：Xiao-Lin Yu Ru-Zhen Jia Pei-Yan Shan Chuan-Zhu Yan Ai-Fen Liu 

机构地区：[1]Department of Geriatrics, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China [2]Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, China [3]Department of Neurology and Neuromuscular Center, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China

出　　处：《Chinese Medical Journal》2016年第4期487-489,共3页中华医学杂志（英文版）

摘　　要：Myotonic dystrophy type 1 （DM1） is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with the cytosine-thynline-guanine （CTG） repeat expansion in 3＇untranslated region in dystrophia myotonica-protein kinase （DMPK） gene on chromosome 19q 13.3. In DM 1, 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 The coexistence of DMI and syrlngomyelia is rare. Here, we report DM1 coexisting with syringonlyelia in a Chinese male patient.Myotonic dystrophy type 1 （DM1） is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with the cytosine-thynline-guanine （CTG） repeat expansion in 3＇untranslated region in dystrophia myotonica-protein kinase （DMPK） gene on chromosome 19q 13.3. In DM 1, 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 The coexistence of DMI and syrlngomyelia is rare. Here, we report DM1 coexisting with syringonlyelia in a Chinese male patient.

关 键 词：Myotonic Dystrophy Type 1 Peripheral Neuropathy： Syringomyelia 

分 类 号：Q426[生物学—神经生物学] S943.232[生物学—生理学]