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.
