<unk>  <unk> ,<unk> P) is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed by paralysis. Onset usually occurs in early childhood, but it still occurs with adults. The mutation which causes this disorder is dominant on SCN4A with linkage to the sodium channel expressed in muscle. The mutation causes single amino acid changes in parts of the channel which are important for inactivation. These mutations impair "ball and chain" fast inactivation of SCN4A following an action potential.
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Potassium-aggravated myotonia
Thyrotoxic periodic paralysis
Paroxysmal exercise-induced dystonia
Myotonia congenita
Glycine encephalopathy
Thyrotoxic myopathy