Hypokalemic Periodic Paralysis
Parole chiave
Astratto
Hypokalemic periodic paralysis (HypoKPP) is a rare disorder characterized by the occurrence of episodic severe muscle weakness, usually triggered by strenuous exercise or high carbohydrate diets. HypoKPP episodes are associated with low serum potassium levels. Most cases of the HypoKPP are hereditary or familial. The familial form of HypoKPP is a rare channelopathy caused by the mutation in either of the calcium or sodium ion channels, primarily affecting the skeletal muscle cells. Acquired cases of HypoKPP are also identified and are associated with hyperthyroidism. Hypokalemic periodic paralysis was first described in 1727 by Musgrave, in 1853 by Cavare and in 1857 by Romberg. The disease-causing mutation in HypoKPP, CACNA1S gene, was identified by Jurkat-Rott et al. in 1994.