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Schwartz-Jampel综合征(又称为骨软骨肌营养不良,软骨营养不良性肌强直)是一种罕见的以肌肉僵硬、肌张力过高、骨关节畸形和发育迟缓为特征的遗传性疾病,其肌电图特征为持续性自发性肌强直放电,从典型的肌强直放电到不同频率的低幅自发性电活动,总称为假性肌强直放电,奇异高频放电
Schwartz-Jampel syndrome (also known as osteochondral dystrophy, dystrophic cartilage myotonia) is a rare genetic disorder characterized by muscle stiffness, hypertonia, osteoarticular deformities and stunting, which EMG is characterized by persistent spontaneous myotonia discharge, ranging from typical myotonic discharge to low frequency spontaneous electrical activity of different frequencies, collectively referred to as pseudo-myotonic discharge, singular high frequency discharge