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首页> 外文期刊>Balkan journal of medical genetics: BJMG >MYOTONIC DYSTROPHY-2: UNUSUAL PHENOTYPE DUE TO A SMALL CCTG-EXPANSION
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MYOTONIC DYSTROPHY-2: UNUSUAL PHENOTYPE DUE TO A SMALL CCTG-EXPANSION

机译：肌肌营养不良-2：由于小型CCTG扩展，不寻常的表型

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Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Examination revealed a left anterior hemiblock, sensorimotor neuropathy, extensive myotonic discharges on needle electromyography (EMG) and a CCTG-expansion of 134 bp on the ZNF9 gene. The family history was positive for hyper-CKemia and muscle weakness. In addition, over the previous years, she had developed vesico-ureteral reflux, cutaneous melanoma, renal cysts, cervix dysplasias, thrombocytosis, cataracts, arterial hypertension, heterozygous Factor V Leiden mutation, cholecystolithiasis, multiple ovarial cysts and vitamin D deficiency. Asymptomatic, long-term hyper-CKemia in association with multisystem disease should raise the suspicion of a MD2. Rare manifestations of MD2 may be thrombocytosis, hyperuricemia, vesico-ureteral reflux, gallstones, hypertension and cyst formation. In patients with asymptomatic hyper-CKemia, needle EMG should be considered. Myotonic dystrophy type 2 may take a mild course over many years if the CCTG-expansion is short.
机译：肌肌营养不良2（MD2）是一种多系统疾病，主要影响近肢肌肉，眼睛，内分泌器官，心脏和肠道。尚未报道，与高脂血症和糖尿病相关的长期持续时间超过20年的长期无症状的肌酸激酶（Heather-ckemia），作为MD2的表现。一名52岁的女性，患有超高患者的历史，自32年与糖尿病，高脂血症和高尿酸血症，在51岁时打开拳头时，与临床肌肌尼有关的临床胸痛和近端肌肉无力。检查揭示了左前翅血栓，传感器神经病变，对针电拍摄（EMG）的广泛的肌动态放电和134bp上的CCTG扩展为ZNF9基因。家族史对于超患者和肌肉无力为阳性。此外，在过去几年中，她开发了VESICO-ineteral回流，皮肤黑素瘤，肾囊肿，颈动脉亢进，白内障，动脉高压，杂合因子V leiden突变，胆囊岩，多卵藻囊肿和维生素D缺乏。无症状，与多系统疾病相关的长期超高患者应提高MD2的怀疑。 MD2的罕见表现可以是血小板症，高尿酸血症，耐腐蚀剂回流，胆结石，高血压和囊肿形成。在无症状的超冰疹患者中，应考虑针头EMG。如果CCTG扩张是短暂的，Myotonic Dystrophy 2型可能会在多年多年的过程中进行轻度课程。

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