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- myotonic chondrodysplasia 肌强直性软骨营养不良
- Objective To summarize the clinical characteristics of myotonic dystrophy (DM). 摘要目的总结强直性肌营养不良症(DM)的临床特点。
- Myotonia of the extremities only causes spastic deformity of the hand or foot. 肢体末端的肌肉强直会导致手或脚的痉挛。
- Myotonia: Disorder causing difficulty relaxing contracted voluntary muscles. 肌强直:随意肌收缩后松弛困难的一种肌肉疾病。
- We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. 摘要我们报告一例台湾地区之先天型肌强直失状症的儿童个案。
- The SK3 channel was overexpressed in skeletal muscles after denervation and in patients with myotonic dystrophy(DM). 使去神经支配和肌强直营养不良患者骨骼肌SK3表达显著上调。
- Myotonic dystrophy is a degenerative disease characterized by progressive muscle wasting and weakness. 强直性肌营养不良是一种退行性疾病，以进展性肌肉萎缩和无力为特征。
- Quick movements cause muscle stiffening.There is also a myotonic form of muscular dystrophy. 快速运动会引起肌强直，肌营养不良是另一种肌强直类型。
- Objective To study the clinical and pathology features of myotonic dystrophy (DM). 摘要目的探讨强直性肌营养不良症(DM)的临床及肌肉病理学的特点。
- The conditions were familial adenomatous polyposis, myotonic dystrophy, multiple endocrine neoplasia, hereditary motor and sensory neuropathy. 这些疾病包括家族腺瘤息肉
- As a result of face myotonia, expressional movement and twinkling eye movement decrease, show " mask face " . 由于面肌强直，表情动作和瞬目动作减少，呈“面具脸”。
- People with myotonic dystrophy have prolonged muscle tensing （myotonia） and are not able to relax certain muscles after use. 强直性肌营养不良病患具长期肌肉拉紧（肌强直）和在使用后无法放松某些肌肉。
- A disorder due to a similar molecular basis, myotonic dystrophy 1 (DM1), is known to have white matter hyperintensities on cranial MRI. 另一种有类似分子病理学基础的疾病：萎缩性肌强直(DM1)患者的核磁共振成像也有白质高信号。
- People with myotonic dystrophy have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. 患有强直性肌营养不良者骨骼肌收缩为持续性收缩（强直），特定肌肉在使用后不能放松。
- Myotonia seems to originate in the muscles (myopathy) rather than the nervous system. 病变似乎是在肌肉本身，而不是在神经系统。
- Over time it became apparent that a central player in myotonic dystrophy was RNA, a versatile molecule that is very similar to DNA. 随着时间推移，很明显RNA在强直性肌营养不良中起了核心作用，RNA是一种类似于DNA普遍存在的分子。
- Conclusions The clinical characteristics of DM are weakness, atrophy and myotonia. 结论DM的临床特征是肌无力、萎缩及强直；
- EMG showd myogenic abnormality and the potential of myotonia damages in all the cases. 肌电图检查结果为肌源性损害，6例均可见肌强直电位发放。
- A hereditary form, myotonia congenita (Thomsen's disease), can affect eyelid and eye motion, swallowing, or talking. 具遗传性的先天性肌强直（汤姆生氏病），会影响眼睑和眼睛的运动、吞咽或说话。
- hereditary deforming chondrodysplasia 遗传变形性软骨发育异常
