Lund University, Department of Clinical Sciences Helsingborg, Sweden.
Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
Neurol Neurochir Pol. 2020;54(1):3-5. doi: 10.5603/PJNNS.a2020.0013.
Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits.
Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures.
Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.
卡齐亚尔斯卡等人报告了一个由 SGCE 截断突变引起的肌阵挛-肌张力障碍（M-D）家族，其中两名成员患有癫痫。此外，患者还存在轻度精神和发育缺陷。
M-D 的特征性运动特征包括肌阵挛、肌张力障碍和震颤。已知还有广泛的其他疾病表现。少数 M-D 患者有癫痫发作。
在 M-D 的发病机制中发现了神经元兴奋性的改变。这可以解释抗癫痫药部分有效的原因和较低的癫痫发作阈值，并可能鼓励其他膜稳定剂的试验。对看似熟知的疾病进行仔细的临床观察仍然很重要。
