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- myotonia hereditaria 先天性肌强直病, 托姆森(氏)病
- 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。
- Objective To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria. 目的探讨遗传性对称性色素异常症(DSH)一家系ADAR基因突变情况。
- 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”。
- 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。
- 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。
- All or only a few may be affected. Myotonia seems to originate in the muscles (myopathy) rather than the nervous system. 可能发生于全身所有的肌肉,也可能仅发生于几块肌肉中。病变似乎是在肌肉本身,而不是在神经系统。
- Conclusions DM is a hereditary disease.The main clinical features are muscle weakness and myotonia associated with multisystem lesions. 结论DM是一种以肌无力和肌强直为主要表现的多系统损害的遗传性疾病；
- DM was a multisystem disease characterizing by myotonia, weakness and atrophy involved in multiple muscle groups, especially in distal limbs, neck and face. 临床表现以面部、颈部及肢体远端肌肉为主的无力、萎缩及强直，伸肌重于屈肌；
- Myapathies countenance is visible at undertaking sexual flesh hidebound (humerus of the much shoulder that it is a face) , atrophic sex myotonia disease. 肌病面容可见于进行性肌营养不良（多为面肩肱型）、萎缩性肌强直症等。
- telangiectasia hereditaria haemorrhagica 遗传性出血性毛细血管扩张
- telangiectasis hereditaria hemorrhagica 出血性遗传性毛细血管扩张
- dyschromatosis symmetrical hereditaria 遗传性对称性色素异常症
- epidermolysis bullosa hereditaria 遗传性大疱性表皮松解
- Epidermolysis bullosa hereditaria letalis 致命性大疱性表皮松解
- epidermolysis bullosa hereditaria lethalis (拉)先天性大疱性致死性表皮松解
- acrodystrophia universalis hereditaria 遗传性普遍性肢营养不良
