Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is precipitated by stress, cold, carbohydrate load, infection, glucose infusion, hypothermia, metabolic alkalosis, anesthesia, and steroids. Episodes tend to increase in frequency until midadulthood. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. However, onset over the age of 20 has been reported miller et al. We are pleased to launch the uncovering periodic paralysis genetic testing program, which builds upon our current suite of patient and physician services already being offered through the. Tweet more than 15 years of research led by neurologists at the university of rochester medical center urmc has culminated in the first approved treatment for individuals with a rare neuromuscular disorder called periodic paralysis. Thyrotoxic periodic paralysis tpp, the most commonly seen disorder among asian men, is characterized by abrupt onset of hypokalemia and. A calcium channel mutation causing hypokalemic periodic. Hyperkalemic periodic paralysis genetics home reference. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Hypokalemic and normokalemic are two kinds of this genetic problem. Periodic paralysis international not accessible, oct 2002. Periodic paralyses pps are rare inherited channelopathies that manifest as abnormal, often potassium ksensitive, muscle membrane excitability leading to episodic.
Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Laboratory evaluation revealed a markedly low potassium level. Hyperkalemic periodic paralysis hyperpp is a disorder that causes occasional episodes of muscle weakness and sometimes a higher than normal level of potassium in the blood. Hypokalemic periodic paralysis hypokpp is a rare, autosomal dominant disorder characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood primarily due to defect in a voltagegated calcium channel. Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation labs. Periodic paralysis definition of periodic paralysis by. Abstract hypokalemic periodic paralysis hypopp is an autosomal dominant disorder belonging to a group of muscle diseases known to. Strongbridge biopharma plc launches the uncovering. The documents contained in this web site are presented for information.
The periodic paralysis association ppa is a nonprofit corporation dedicated to providing educational information, advocacy and genetic testing to individuals suffering from the class of disorders known as periodic paralysis and nondystrophic myotonia. Enable javascript to view the expandcollapse boxes. This article focuses on questions that arise about diagnosis and treatment for people with hypokalemic periodic paralysis. New drug for periodic paralysis has roots in urmc research. The impact of permanent muscle weakness on quality of life in periodic paralysis. The first attack usually occurs in childhood or adolescence. With periodic paralysis, the gateway for these elements are disturbed and disrupt the ability to contract. Get a printable copy pdf file of the complete article 333k, or click on a page image below to browse page by page. Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. This form is often associated with a decrease in serum potassium levels. Review of the diagnosis and treatment of periodic paralysis. The last is due to such defects in both skeletal and cardiac muscle. Hypokalemic periodic paralysis hypokpp is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis when there is a fall in potassium levels in the blood.
Thyrotoxic periodic paralysis complicated by nearfatal ventricular arrhythmias. Periodic paralysis definition periodic paralysis pp is the name for several rare, inherited muscle disorders marked by temporary weakness, especially following rest, sleep, or exercise. List of hypokalemic periodic paralysis medications 3. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium distal weakness. That was the takeaway from a joint presentation made by inspire and strongbridge.
Glucocorticoid induced hypokalemic periodic paralysis. Familial periodic paralysis shows an autosomal dominant inheritance pattern and is characterized by episodes of flaccid weakness or paralysis with preserved ventilation. In individuals with this mutation, attacks often begin in adolescence and most commonly occur on awakening or. There are two major forms, hypokalemic and hyperkalemic, each caused by. Elements in the body are needed to make the muscles contract. The medical name for high potassium level is hyperkalemia hyperpp is one of a group of genetic disorders that includes hypokalemic periodic paralysis and thyrotoxic periodic paralysis. Episodes typically involve a temporary inability to move muscles in the arms and legs. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hyperglycemia. Periodic paralysis may also occur as a nonfamilial process secondary to. The patient presented with sudden onset paralysis of his extremities. Hypokalemic periodic paralysis is a rare autosomal disorder that is characterized by muscle weakness or paralysis that is triggered by a fall in serum potassium. From research to action for patients it is exciting to see the results of research providing strong, positive benefits to patients. The first two are caused by genetic defects in highspeed tunnels in skeletal muscle fibers known as ion channels. Hypokalemic periodic paralysis evidence search nice.
Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Thyrotoxic periodic paralysis complicated by nearfatal ventricular. Periodic paralysis is a condition that is present from birth. This is due to mutations in ion channels in the muscle membrane in conjunction with other factors such as eating salty or high carbohydrate foods, sleep or rest after exercising, strong emotions or.
Myotonic disorders and periodic paralysis richard t. What links here related changes upload file special pages permanent link page. Introduction p0010 periodic paralysis is a disorder of skeletal muscle in which patients experience attacks of muscle weakness of variable duration and severity. Familial periodic paralysis genetic and rare diseases. The attacks can last from a few minutes to several days. The impact of permanent muscle weakness on quality of life.
Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates. Hypokalemic periodic paralysis generally presents later than hyperkalemic paralysis, usually between the ages of 5 and 20, typically in the teenage years fouad 1997, miller 2004. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis electrolyte disturbance, k, mg, ca hypokalemic periodic paralysis. However, you will still need to take your potassium tablets as prescribed by your doctor. Dietary guidelines for hypokalemic periodic paralysis. Hypokalemic periodic paralysis genetics home reference nih. Changes to your diet may help reduce the frequency of episodes of paralysis. Genetic heterogeneity in hypokalemic periodic paralysis uni ulm. Description periodic paralysis disorders are genetic disorders that affect muscle strength. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Hypokalemic periodic paralysis is a disorder that involves occasional episodes of muscle weakness it is one of a group of genetic disorders that includes hyperkaliemic periodic paralysis and thyrotoxic periodic paralysis in witch people only develop symptoms of periodic paralysis due to hyperthyroidism.
Evidencebased information on hypokalemic periodic paralysis from hundreds of trustworthy sources for health and social care. Hypokalaemic hypopp and hyperkalaemic pp and andersentawil syndrome are genetically heterogeneous. Periodic paralysis syndrome types, symptoms, diagnosis. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Attacks cause severe weakness or paralysis that usually lasts from hours to days. A calcium channel mutation causing hypokalemic periodic paralysis karin jurkatrott, frank lehmannhorn, alexis elbaz1, roland heine, ronald g. Moxley, iii, chad heatwole the term channelopathies has been extended to include disorders affecting all organ systems, but this chapter focuses on channelopathies of skeletal muscle. Hyperkalemic periodic paralysis hypp, hyperkpp is an inherited autosomal dominant. Ricker dept of physiology, university of ulm, ulm, germany.