Episodes tend to increase in frequency until midadulthood, after which they occur less. 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. The patients paralysis resolved upon repletion of his low potassium and he was. The medical name for low potassium level is hypokalemia. 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. Hyperkalemic periodic paralysis pathology britannica. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. This is due to mutations in the sodium channels in the muscle in conjunction with other factors such as eating potassium rich food, stress, rest after exercise, fatigue, fasting or weather.
Hyperkalemic periodic paralysis an overview sciencedirect. Some patients have their first attack within minutes of birth, but a few dont have symptoms until they are in their 60s or 70s. Mar 16, 2020 gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. Allelic disorders with overlapping phenotypes include paramyotonia congenita and the potassiumaggravated myotonias.
Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Evidence ofchanges in plasma naand cl and induction ofparalysis by adrenal glucocorticoids davidh. This form of the disorder is caused by mutations in the sodium. Hypokalemic periodic paralysis hypopp was considered. Hyperkalemic periodic paralysis hyperpp is characterized by attacks of flaccid limb weakness which may also include weakness of the. Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. We describe a novel procedure, using ligase chain reaction lcr, to simultaneously identify two different point mutations previously described and one rare, apparently benign polymorphism that results in a. See hyperkalemic periodic paralysis and thyrotoxic periodic paralysis.
Results of genetic and provocative testing in immediate family members suggest that hyperkalemic periodic paralysis may be genetically heterogeneous. Hyperkalemic periodic paralysis has been associated with a popular quarter horse sire called impressive. Unfortunately, there is little data to guide the perioperative care of patients with the lesscommon hyperkalemic disorder. As in all forms of periodic paralysis, episodes of weakness in hyperkpp are. Pdf on jan 1, 2006, sharon j spier and others published hyperkalemic periodic paralysis. Familial periodic paralyses information page national. Hyperkal periodic paralysis triggers openanesthesia.
Epidemiology hypokalemic pp is the most common of the periodic paralyses, but is still quite rare, with an estimated prevalence of 1. Sporadic cases of hyperkalemic periodic paralysis are rare. These episodes can last from a few minutes to a few days, depending on. Mutations in the scn4a gene can also cause hyperkalemic periodic paralysis hypp. 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. In hyperkalemic periodic paralysis, high levels of potassium in the blood interact with genetically caused abnormalities in sodium channels pores that allow the passage of sodium molecules in muscle cells, resulting in temporary muscle weakness and, when severe, in temporary paralysis. Hyperkalemic periodic paralysis hyperpp is an autosomal dominant muscle sodium channelopathy with nearly completepenetrance1. Pdf hyperkalemic periodic paralysis hyperpp is characterized by episodic attacks of muscle weakness or paralysis associated with an. Hyperkalemic periodic paralysis jama neurology jama. Review of the diagnosis and treatment of periodic paralysis. Hyperkalemic periodic paralysis hyperpp is an autosomal dominant muscle sodium. One example is hyperkalemic periodic paralysis hypp caused by a defect in the skeletal musclesodium channel. This is because kayexalate is relatively slow acting and corrective shifts in potassium needed for the treatment of attacks of hyperkalemic periodic paralysis must be rapid, as induced by glucose and either. 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 hyperkalemic pp usually begins early in childhood, with episodes of muscle weakness or paralysis lasting from 15. Hyperkalemic periodic paralysis hyperpp is characterized by episodic attacks of muscle weakness or paralysis associated with an increased potassium concentration in blood sometimes very mild. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Apr 30, 2018 a clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. 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 characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed. Hyperkalemic periodic paralysis hyperkalemic pp usually begins early in childhood, with episodes.
Primary hyperkalemic periodic paralysis definition of. The periodic paralyses are a group of rare inherited disorders that cause temporary episodes of muscle weakness or paralysis. Hyperkalemic periodic paralysis genetic and rare diseases. Periodic paralyses hyperkalemic, hypokalemic, andersen. Dalakos,andherbertfellerman fromthedepartmentofmedicine division ofendocrinology, state university ofnewyork upstatemedicalcenter, syracuse, newyork210. Laboratory evaluation revealed a markedly low potassium level. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
Hypokalemic periodic paralysis genetics home reference nih. We studied a 2yearold girl with clinically typical hyperkalemic periodic paralysis except for a negative family history. Hyperkpp is one of a group of diseases, called inherited myopathies, that causes problems with the tone and contraction of skeletal muscles. Hypokalemia a decreased potassium level in the blood is usually present during attacks. Hypokalemic periodic paralysis, familial rare, usually sodiumchannel. The name was later changed to hyperkalemic periodic paralysis in light of the provocative. For a general phenotypic description and a discussion of genetic heterogeneity of hokpp, see hokpp1, which is caused by mutation in the cacnl1a3. Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. Introduction several decades after the demonstration that attacks of periodic paralysis wereassociated in manypatients with hypokalemia 1, 2, families with hyperkalemic periodic paralysis were first recognizedby tyler, stephens, gunn.
Episodes typically involve a temporary inability to move muscles in the arms and legs. Hypokalemic periodic paralysis case journal of reproductive. 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. Vacuoles have been found in the other types of periodic paralysis hyperkalemic, normokalemic and in other. Hyperkalemic periodic paralysis is the result of a genetic mutation in the skeletal muscle sodium channel gene. Hypopp is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed by paralysis. This is usually called hyperkalemic periodic paralysis because most patients potassium levels rise. Primary periodic paralyses include hypokalemic paralysis hypopp, hyperkalemic paralysis hyperpp, and andersen. The patient presented with sudden onset paralysis of his extremities. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Periodic paralysis pp is a muscle disease that causes episodic. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness.
All forms of periodic paralysis affect both sexes equally and are inherited in a dominant manner, meaning only one genetic flaw mutation from one parent can cause the disease. Episodes tend to increase in frequency until midadulthood, after which they occur less frequently in many people with the condition. Spinal anesthesia for a patient with familial hyperkalemic. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Hyperkalemic periodic paralysis in horses symptoms, causes. Hypokalemic periodic paralysis hypokpp, also known as familial hypokalemic periodic paralysis fhpp, is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis when there is a fall in potassium levels in the blood. The frequencies of hyperkalemic periodic paralysis, paramyotonia congenita pc, and potassiumaggravated myotonias pam are not known. We studied mutations of the adult voltagegated skeletal muscle sodium channel gene in 12 families, from diverse ethnic backgrounds, with hyperkalemic periodic paralysis hyperpp. 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. Hyperkalemic periodic paralysis begins in infancy and is characterized by more frequent but milder attacks that last minutes or hours. Hyperkalemic periodic paralysis and the adult muscle sodium.
Hyperkalemic periodic paralysis with paramyotonia congenita. Attacks can last only a few moments or go on for days. The classical signs are muscle fasciculation, spasm, and weakness associated with hyperkalemia. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Equine hyperkalemic periodic paralysis disease hypp is a muscular disease caused by an inherited genetic mutation. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Hyperkalemic periodic paralysis genetics home reference. Hyperkalemic periodic paralysis genetics home reference nih. Recent advances in the understanding of the pathophysiology of primary periodic paralyses have shown that both hypoand hyperkalemic.
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. Hypokalemic periodic paralysis l o w activity o f s a r c o p l a s m i c r e t i c u l u m a n d muscle d u r i n g an i n d u c e d a t t a c k. We believe that the case discussed below is the first detailed report of a regional anesthetic successfully performed for a patient with familial hyperkalemic periodic paralysis. Hypp has been traced back to one horse named impressive and has the alternative.
Quarter horse hyperkalemic periodic paralysis ufaw. Hyperkalemic periodic paralysis, better known in the horse world as hypp, can be a devastating disease. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Hyperkalemic periodic paralysis is a rare autosomal disorder that is characterised by muscle weakness or paralysis that is triggered by an increase in serum potassium.
Hyperkal periodic paralysis triggers 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. Periodic paralyses hyperkalemic, hypokalemic, andersentawil. 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. Treatment of thyrotoxicosis is adequate to prevent recurrent. Hypokalemic periodic paralysis hkpp is a rare genetic disorder with autosomal dominant inheritance and 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. Mar 27, 2019 hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Periodic paralysis syndrome hypokalemic, symptoms, types. Hyperkalemic periodic paralysis disease hypp description. Other articles where hyperkalemic periodic paralysis is discussed. Epidemiology hypokalemic pp is the most common of the periodic paralyses, but is still quite rare, with an estimated prevalence of 1 in 100,000 1. Cacna15 gene was sent for the diagnosis of the patient. Nov 10, 2017 primary periodic paralyses pps are rare autosomal.
Patients with hyperkalemic pp hyperkpp develop paralysis or weakness and sometimes muscle stiffness when they eat potassiumrich food. Hyperkalemic periodic paralysis in horses symptoms. This is due to mutations in the sodium channels in the muscle in conjunction with other factors such as eating potassium rich food, stress. Some experts feel that there is no role for kayexalate, a potassium binding resin, in the treatment of hyperkalemic periodic paralysis. Pdf hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated. 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. Periodic paralysis is found in all races and in both sexes. Differential diagnosis and important diagnostic tests periodic. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory failure, or if the low potassium levels lead to.
Caused at least partly by mutations in sodium channel nav1. Characterization of hyperkalemic periodic paralysis. Hypokalemic and normokalemic are two kinds of this genetic problem. This is also referred to as potassium sensitive periodic paralysis. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Hyperkalemic periodic paralysis is a genetic disease that causes episodes of extreme muscle weakness and an increase of the potassium levels in the blood. All patients with hypokalemic periodic paralysis should be tested for thyrotoxicosis. 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. 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 is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Acetazolamide prevented attacks and improved myotonia in this. Hypokalemic periodic paralysis genetic and rare diseases.
230 449 483 202 1220 177 1415 186 1070 789 37 834 400 101 494 885 1146 750 1523 116 1256 1278 1358 99 318 251 720 226 392 29 194 374 480 1280 410 1201 1292 984