论文部分内容阅读
糖原累积病,为罕见常染色体隐性遗传病。单纯以肌无力为临床表现的糖原肌病,诊断更为困难,文献报告很少。我院于1999年收治1例因肌无力进行加重,丧失劳动能力,历经10余年四处就医,均无结论。因本病例诊断有一定难度,为拓宽临床医师诊断思路,特将本病报告如下。患者女,34岁,1999年4月入院。患者于20岁时无诱因出现四肢无力、易疲劳,症状朝轻暮重,月经期更为明显。严重时上、下楼、蹲起时均须帮助,行动困
Glycogenosis, a rare autosomal recessive disease. Simple to muscle weakness as a clinical manifestation of glycogen myopathy, the diagnosis is more difficult, the literature reported few. In our hospital in 1999, 1 case of aggravating myasthenia gravis, loss of ability to work, after more than 10 years of medical treatment, no conclusion. Due to the diagnosis of this case has a certain degree of difficulty, to broaden the clinicians diagnostic ideas, especially the disease reported as follows. Female patient, 34 years old, admitted to hospital in April 1999. At 20 years of age, there was no incentive for patients with limb weakness, fatigue, symptoms of light and heavy weight, menstrual period is more obvious. In serious cases, when going downstairs and squatting, they have to help and get stuck