【摘要】：目的探討強(qiáng)直性肌營(yíng)養(yǎng)不良癥(DM)臨床和病理學(xué)特點(diǎn)。方法回顧性分析25例DM患者的臨床資料。結(jié)果 25例DM患者中男女發(fā)病比為1.27∶1,發(fā)病年齡集中10~40歲。慢性病程,中位病程為(8±12)年,有家族史者占45.83%。主要以四肢無(wú)力、雙下肢無(wú)力、雙手握拳后不能立即伸開(kāi)和雙上肢無(wú)力為首發(fā)癥狀,主要體征依次為肢體肌力下降、雙手握拳后不能立即伸開(kāi)、叩擊性肌強(qiáng)直和肌肉萎縮。DM患者常合并其他多系統(tǒng)損害;多數(shù)患者血清CK輕至中度升高;EMG檢查顯示肌強(qiáng)直電位。DM的主要肌肉病理特征為肌纖維大小不一,核內(nèi)移、核袋形成、肌膜核增多、肌源性群組化現(xiàn)象和主要累及Ⅰ型肌纖維的萎縮。DM患者肌肉病理免疫組織化學(xué)染色顯示膜蛋白表達(dá)正常。其中8例患者經(jīng)過(guò)知情同意后抽取外周血進(jìn)行DMPK基因檢測(cè),結(jié)果顯示均為DMPK基因突變,CTG重復(fù)次數(shù)均大于50,確診為DM1型。結(jié)論 DM患者男性多見(jiàn),多有遺傳家族史。臨床表現(xiàn)復(fù)雜多樣,除肌強(qiáng)直、肌無(wú)力和肌萎縮最常見(jiàn)外,尚可伴其他多系統(tǒng)損害。EMG對(duì)該病的診斷較肌酶具有更大的價(jià)值。肌肉病理具有特異性的表現(xiàn),免疫組化染色可作為鑒別診斷的依據(jù),對(duì)本病的診斷價(jià)值不大�；驒z測(cè)可確診。
[Abstract]:Objective to investigate the clinical and pathological features of myotonic dystrophy (DM). Methods the clinical data of 25 patients with DM were analyzed retrospectively. Results the incidence ratio of male and female in 25 patients with DM was 1.27: 1, and the age of onset was 1040 years old. The median course of chronic disease was (8 鹵12) years, with family history accounting for 45.83 years. The main symptoms were weakness of limbs, weakness of both lower limbs, inability to extend immediately after both hands clenched and weakness of both upper limbs. The main signs in turn were decreased muscle strength of the limbs, and no immediate extension after the hands clenched their fists. Percussion myotonia and muscular atrophy. Patients with DM are often associated with other multiple system damage; Most patients' serum CK increased slightly to moderately. EMG showed that myotonic potential. The main muscle pathological features of DM were different size of muscle fibers, intranuclear migration, formation of nuclear pouch and increase of myomembranous nucleus. The expression of membrane protein was normal in DM patients. DMPK gene was detected in peripheral blood of 8 patients with informed consent. The results showed that all patients had DMPK gene mutation, CTG repeat times were more than 50, and they were diagnosed as DM1 type. Conclusion male patients with DM are more common and have hereditary family history. The clinical manifestations were complicated and varied, except for myotonia, myasthenia and atrophy, which could be accompanied by other multi-system damage. EMG has more value in the diagnosis of the disease than muscle enzyme. The myopathology has the specific manifestation, the immunohistochemical staining can be used as the basis for differential diagnosis, but it is of little value in the diagnosis of the disease. Gene testing can be confirmed.
【作者單位】： 河北醫(yī)科大學(xué)第二醫(yī)院神經(jīng)內(nèi)科;滄州市人民醫(yī)院;
【基金】：河北省醫(yī)學(xué)適用技術(shù)跟蹤項(xiàng)目(G2015013)
【分類(lèi)號(hào)】：R746.2

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