Familial periodic paralysis

Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates.^[1] There are 4 forms of familial periodic paralysis: hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. In the hypokalemic form, the paralysis is caused by low levels of potassium. In the hyperkalemic form, the paralysis is caused by high levels of potassium in the blood. In the thyrotoxic form, the paralysis is caused by low levels of potassium in the blood and an overactive thyroid gland (hyperthyroidism). In Andersen-Tawil syndrome, potassium levels can be high, low, or normal.^[1][2] Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis.^[3] The hyperkalemic form is due to mutations in SCN4A gene.^[4] The underlying cause of the thyrotoxic form is unknown. Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome.^[5] Treatment is focused on correcting the levels of potassium in the blood and preventing episodes with lifestyle changes.^[6] 

News

• NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
  May 22, 2020

• NCATS Translational Approach Addresses COVID-19
  May 21, 2020

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.