Trip J, Drost G, Ginjaar H B, van Engelen B G M, Faber C G
Academisch Ziekenhuis Maastricht, Neuromusculair Centrum, afd. Neurologie, Postbus 5800, 6202 AZ Maastricht.
Ned Tijdschr Geneeskd. 2005 Sep 17;149(38):2093-8.
Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms. They manifest as diseases of the heart, brain or skeletal muscle. Hereditary skeletal-muscle channelopathies are characterised by myotonia, periodic paralysis or a combination of both and can be categorised as chloride, sodium and calcium channelopathies. When there is myotonia, the skeletal-muscle membrane is overexcited. In cases of periodic paralysis, the skeletal-muscle membrane is inactive. It is difficult to classify hereditary muscle channelopathies on the basis of clinical criteria only. A more reliable diagnosis is made using DNA analysis. Scientific research should focus on genotype-phenotype relationships.
离子通道病是一组异质性遗传病，其中离子通道缺陷是症状的病因。它们表现为心脏、大脑或骨骼肌疾病。遗传性骨骼肌离子通道病的特征是肌强直、周期性麻痹或两者兼而有之，可分为氯离子、钠离子和钙离子通道病。出现肌强直时，骨骼肌膜过度兴奋。在周期性麻痹的情况下，骨骼肌膜无活性。仅根据临床标准很难对遗传性肌肉离子通道病进行分类。使用DNA分析可做出更可靠的诊断。科学研究应聚焦于基因型与表型的关系。
