例1 女,12岁。进行性全身肌强直6个月。患者因受惊吓后逐渐出现口周发紧、张口困难,四肢及全身肌肉发紧,行动笨拙,双手握拳后不能迅速松开,伴心慌、气短、多汗,反复活动后症状消失,无肌肉疼痛或肌无力发作。近2个月来,全身肌肉发紧呈持续性,可因突然活动或遇冷加重,但反复活动后症状可减轻,睡眠时症状缓解。家族中无类似病者。查体:智力正常,全身肌张力增高,肌腹饱满呈运动员型,无肌萎缩,双手握拳后不能迅速松开,前臂肌及舌肌叩击性肌强直,腱反射未引出,病理征阴性。血钾4.2mmol/L、CPK215IU/L(正常值15～130)、LDH184IU/L(正常值60～140),血铜、GOT、CER Example 1 Female, 12 years old. Progressive myotonia 6 months. The patient gradually became more and more prone to perioral problems due to the startle of fright. His mouth and mouth became tight. His limbs and body muscles were tightened. His actions were awkward. His hands could not be quickly released after being fisted. With palpitation, shortness of breath and perspiration, symptoms disappeared after repeated activities without muscle ache Or muscle weakness attack. Nearly two months, the whole body muscle tension was persistent, may be due to sudden activity or exacerbation of the cold, but the symptoms can be reduced after repeated activities, symptoms of sleep relief. There are no similar patients in the family. Physical examination: normal intelligence, increased body muscle tension, full muscle was athlete’s type, muscle atrophy, can not be quickly released after the fist of both hands, forearm muscle and tongue muscle tapping muscle, tendon reflex did not lead to pathology sign negative. Potassium 4.2mmol / L, CPK215IU / L (normal 15 ~ 130), LDH184IU / L (normal 60 ~ 140), blood copper, GOT, CER