Aug 18, 2017 hyperkalemic periodic paralysis is a genetic disease that causes episodes of extreme muscle weakness and an increase of the potassium levels in the blood. Hypokalemic periodic paralysis hypopp is a condition in which. Except for thyrotoxic hypokalemic periodic paralysis and periodic paralyses. See also hokpp2, which is caused by mutation in the scn4a gene. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or.
Periodic paralyses hyperkalemic, hypokalemic, andersentawil. Episodes tend to increase in frequency until midadulthood, after which they occur less. Hyperkalemic periodic paralysis wikipedia republished wiki 2. Approval was based on 2 randomized, doubleblinded placebocontrolled studies that included 8 patients. This results from potassium moving from the blood into muscle cells in an abnormal way. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Hyperkalemic periodic paralysis genetic and rare diseases.
It is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. A novel scn4a mutation causing myotonia aggravated by cold and potassium. Hyperkalemic periodic paralysis is a genetic disorder that occurs in horses. One example is hyperkalemic periodic paralysis hypp caused by a defect in the skeletal musclesodium channel. This means that having a change mutation in only one copy of one of the responsible genes in each cell is enough to cause symptoms of the condition. Hyperkalemic periodic paralysis online mendelian inheritance in man omim 170500, where potassium leaks out of the cells into the bloodstream. Online mendelian inheritance in man omim hyperkalemic periodic paralysis. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed by paralysis.
The mutation which causes this disorder is dominant on scn4a with linkage to the so. The patient presented with sudden onset paralysis of his extremities. It is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic. Hypokalemic periodic paralysis genetic and rare diseases. Hypokalemic periodic paralysis an overview sciencedirect. As in all forms of periodic paralysis, episodes of weakness in hyperkpp are caused by a temporary loss of muscle excitability. Apr 05, 2016 secondary periodic paralysis a demonstrably known causes serum potassium abnormal even in interictal phase 7. Hyperkalemic periodic paralysis hypp is a dominantly inherited disorder of muscle in. Quarter horse hyperkalemic periodic paralysis ufaw. Apr 30, 2018 dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis, primary hypokalemic periodic paralysis, and related variants.
Some animals will have more severe and frequent attacks than others on average, and even in the same horse, the intensity of the attack can vary from episode to episode. It is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels. Hyperkalemic periodic paralysis an overview sciencedirect. Hypokalemic periodic paralysis genetics home reference nih. Allelic disorders with overlapping phenotypes include paramyotonia congenita and the potassiumaggravated myotonias.
Hyperkalemic periodic paralysis news newspapers books scholar jstor april 2017. Hyperkal periodic paralysis triggers openanesthesia. Hyperkalemic periodic paralysis an overview sciencedirect topics. Hyperkalemic periodic paralysis hypp is an inherited disease of the muscle which is caused by a genetic defect.
Hyperkalemic periodic paralysis is an autosomal dominant disease leading to intermittent weakness associated with hyperkalemia and often precipitated by a potassiumrich meal, rest after exercise, or stressful situations. Hyperkalemic periodic paralysis hypp, hyperkpp is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Plassart e, reboul j, rime cs, recan d, millasseau p, eymard b, et al. Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. It is also known as impressive syndrome, after an index case in a horse named impressive. Periodic paralysis wikimili, the free encyclopedia. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Mutations in the scn4a gene can also cause hyperkalemic periodic paralysis hypp. Hypokalemic paralysis often referred to as familial is caused. Hyperkalemic periodic paralysis genetics home reference nih. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. The condition is called hyperkalaemic periodic paralysis or hypp, mercifully. This form is often associated with a decrease in serum potassium levels.
Respiratory paralysis or heart failure may lead to death. Its one of several diseases of horses that has a genetic basis. 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. Apr 30, 2002 hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium jun 12, 2017 hypokalemic periodic paralysis hokpp is inherited in an autosomal dominant manner. Globally speaking, ion channel mutations modify the cycle of muscle. Symptoms of hyperkalemic periodic paralysis in horses this hereditary disease seems to strike at random, and typically episodes last somewhere around fifteen to sixty minutes. Hyperkalemic periodic paralysis hyperpp is characterized by.
Paramyotonia congenita online mendelian inheritance in man omim 168300, a form which often accompanies hyperkalemic. Hyperkalemic periodic paralysis in horses symptoms, causes. Conventional classification of periodic paralysis primary or familial periodic paralysis. Paramyotonia congenita online mendelian inheritance in man omim 168300, a form which often accompanies hyperkalemic periodic paralysis, but may present alone. Hyperkalemic periodic paralysis is inherited as an autosomal dominant trait, which means it can occur in both males and females and only one copy of the gene is required to produce the disease. As in all forms of periodic paralysis, episodes of weakness in hyperkpp are. It is an autosomal dominant disorder, with reduced penetrance in women a male to female ratio of 3 or 4 to 1.
Risk factors include having other family members with periodic paralysis. These genes were curated based on current evidence to provide a comprehensive test for the genetic causes of hypokalemic periodic paralysis. Caused at least partly by mutations in sodium channel nav1. There are horses that have it that never show a symptom a day in their life, and horses that have repeated severe episodes, to the point that their owners choose to. Periodic paralysis is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. His sister had hyperkalemic periodic paralysis, and his father had severe childhoodonset cmt and periodic paralysis. Moxley iii, chad heatwole, in swaimans pediatric neurology sixth edition, 2017. Download citation on jan 1, 2009, dieter metze and others published hyperkalemic periodic paralysis find, read and cite all the research you need on researchgate. Multiple other relatives had similar features of 1 or both disorders. It occurs in humans, horses where it is also known as impressive syndrome, after an index case in a horse named impressive, or possibly one of his ancestors, and perhaps other animals. Hypokalemic periodic paralysis type 1 is the most frequent form of periodic paralysis with an estimated prevalence of 1100 000. Hypokalemic periodic paralysis multimedia encyclopedia. Hyperkalemic periodic paralysis hypp, hyperkpp is a genetic disorder.
Hyperkalemic periodic paralysis hypp, hyperkpp is a genetic disorder that occurs in horses. Periodic paralyses hyperkalemic, hypokalemic, andersen. The medical name for low potassium level is hypokalemia. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Hyperkalemic periodic paralysis has been associated with a popular quarter horse sire called impressive. Hyperkalemic periodic paralysis is characterized by intermittent episodes of weakness. These episodes can last from a few minutes to a few days, depending on. Hyperkalemic periodic paralysis wikipedia republished. Hypokalemic periodic paralysis hypopp is a disorder that causes occasional episodes of muscle weakness and sometimes a lower than normal level of potassium in the blood. Mutations in the muscle sodium channel gene scn4a in french families with hyperkalemic periodic paralysis and paramyotonia congenita. In the muscle of affected horses, a point mutation exists in the sodium channel gene and is passed on to offspring. Unlike other forms of periodic paralysis, people with hypopp have normal thyroid function.
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. Sodium channels are pores in the muscle cell membrane which control contraction of the muscle fibers. Most cases of pp are hereditary, usually with an autosomal dominant. It is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic when episodes can be induced by elevated potassium. Hyperkalemic periodic paralysis hypp is an inherited disease that causes sporadic episodes of muscle spasms, weakness, or paralysis in affected horses exposed to high potassium levels. Hypokalemic periodic paralysis hokpp is inherited in an autosomal dominant manner. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Hyperkalemic periodic paralysis hypp, hyperkpp is an inherited autosomal dominant. Familial periodic paralysis shows an autosomal dominant inheritance pattern and is characterized by episodes of flaccid weakness or paralysis with preserved ventilation. Hypokalemic periodic paralysis is an autosomaldominant disorder caused most commonly by mutations in the alpha subunit of the skeletal muscle calcium channel gene cav1.
Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. Hypokalemic and normokalemic are two kinds of this genetic problem. Hyperkalemic periodic paralysis definition of hyperkalemic. Periodic paralysis syndrome hypokalemic, symptoms, types. May 18, 2017 periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Novel cacna1s mutation causes autosomal dominant hypokalemic. Genetic transmission of familial hyperkalemic periodic paralysis type 1 is by autosomal dominant inheritance. Hyperkpp is one of a group of diseases, called inherited myopathies, that causes problems with the tone and contraction of skeletal muscles. Hyperkalemic periodic paralysis genetics home reference. The patients paralysis resolved upon repletion of his low potassium and he was. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Nov 27, 2010 i get periodic questions about a condition that affects primarily quarterhorses, but also paint horses and appaloosas. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Jul 18, 2003 hyperkalemic periodic paralysis hyperpp is characterized by attacks of flaccid limb weakness which may also include weakness of the muscles of the eyes, throat, and trunk, hyperkalemia serum potassium concentration 5 mmoll or an increase of serum potassium concentration of at least 1.
In most cases, an affected person inherits the mutated gene from an affected parent. Onset usually occurs in early childhood, but it still occurs with adults. Apr 30, 2018 a clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. Hyperkalemic periodic paralysis hypp is a dominantly inherited disorder of muscle in quarter horses, american paint horses, appaloosas, and quarter horse crossbred animals that causes episodes of tremors, myotonia, weakness, or paralysis in association with elevated serum potassium naylor, 1997. Periodic paralysis pp is a rare neuromuscular disorder related to a defect in muscle ion channels, characterized by episodes of painless muscle weakness, which may be precipitated by heavy exercise, fasting, or highcarbohydrate meals. Hypopp is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic. Hyperkalemic periodic paralysis, better known in the horse world as hypp, can be a devastating disease. Hyperkalemic periodic paralysis is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. But they have a very low blood level of potassium during episodes of weakness.
Malacards integrated aliases for hyperkalemic periodic paralysis. Diagnosis is based on clinical symptoms including the increase of blood potassium level during an episode, but normal levels of blood potassium level in between episodes. There are horses that have it that never show a symptom a day in their life, and horses that have repeated severe episodes, to the point that their owners choose to humanely euthanize them instead of watching them suffer. See hyperkalemic periodic paralysis and thyrotoxic periodic paralysis. Inheritance is autosomal dominant with reduced penetrance and. Molecular analysis identified a missense mutation in the mpz gene 159440 in the proband and a missense mutation in the scn4a gene 603967. Familial periodic paralyses information page national. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium paralytic attacks are characterized by decreased muscle tone flaccidity more marked proximally than distally with normal to decreased deep tendon reflexes. The invitae periodic paralysis panel analyzes four genes associated with hypokalemic periodic paralysis hokpp, which is a disorder characterized by muscle weakness or paralysis with low serum potassium. Hyperkalemic periodic paralysis hyperpp is characterized by attacks of flaccid limb weakness which may also include weakness of the muscles of the eyes, throat, and trunk, hyperkalemia serum potassium concentration 5 mmoll or an increase of serum potassium concentration of at least 1.
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