Hypokalemic periodic paralysis is a rare heterogeneous disorder. Changes to your diet may help reduce the frequency of episodes of paralysis. 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 ribosomes v. 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 hokpp is a rare neuromuscular disorder caused by. In five hypopp families without dhpr gene defects, we identified two mutations, arg672his and gly, in the voltage sensor of domain 2 of a different. The frequency of attacks generally lessens in the 40s or 50s. The pathomechanism of familial hypokalemic periodic paralysis hypopp is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor dhpr voltage sensor. Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is. Hypokalemic periodic paralysis an overview sciencedirect topics. For a general phenotypic description and a discussion of genetic heterogeneity of hokpp, see hokpp1, which is. Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies 1.
Thyrotoxic periodic paralysis clinical diagnosis and management. Hypokalemic periodic paralysis hypokpp is one of the primary forms of periodic paralysis, caused by one or more mutations in the calcium, sodium or potassium ion channels in muscle membrane. Hypokalemic paralysis is a form of metabolic myopathy, which represents a heterogeneous group of disorder characterized by hypokalemia, acute flaccid paralysis, and potentially fatal episodes of muscle weakness through the involvement of the respiratory muscles, and lifethreatening cardiac arrhythmias. Patients with periodic paralysis had significant incidence of rebound hyperkalemia. The patient presented with sudden onset paralysis of his extremities. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. Inhereted disorder usually a genetic defect in the calcium channel. Also note hypokalemic periodic paralysis is decrease in serum potassium can be triggered by stress, exercise, highcarbohydrate or salty meals, hypothermia, menstruation, pregnancy, or insulin. Periodic paralysis and voltagegated ion channels kidney.
Voltagesensor sodium channel mutations cause hypokalemic. Hypokalemic periodic paral trigger open anesthesia. 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 scn4a gene can also cause hyperkalemic periodic paralysis hypp. Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. Familial periodic paralysis is a rare autosomal dominant condition with considerable variation in penetrance characterized by episodes of flaccid paralysis with loss of deep tendon reflexes and failure of muscle to respond to electrical stimulation. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Nonperiodic form of hypokalemic paralysis was the most common variant in our study.
Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Caused at least partly by mutations in sodium channel nav1. Review of the diagnosis and treatment of periodic paralysis. Moxley iii, chad heatwole, in swaimans pediatric neurology sixth edition, 2017. 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. Hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Its the most common of several genetic disorders that cause periodic paralysis. Most often, these episodes involve a temporary inability to move muscles in the arms and legs.
It is classified as hypokalemic or hyperkalemic periodic paralysis according to serum potassium levels during attacks. The second patient was a 45yearold lady who presented reported 31 cases of hypokalemic paralysis out of which, with acute onset of quadriparesis of 2 days duration. Hypokalemic periodic paralysis is a rare and dramatic complication of hyperthyroidism. Jul, 2017 familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. He developed a progressive disabling tetraparesis and died in the fourth decade of life. Hypokalemic pp may be familial with autosomal dominant inheritance or may be acquired in patients with thyrotoxicosis 27. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium.
Episodes typically involve a temporary inability to move muscles in the arms and legs. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. 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. Isoform specific knockout of mbnl1 ctg n or cctg n gene cug n or ccug n.
Individuals with this mutation, attacks sometimes begin in. Sodium channel gene mutations in hypokalemic periodic paralysis. Sjogrens syndrome was found to be the etiology in three she gave a history of. Sinai medical center, new york, usa 5 june 2009 this article focuses on questions that arise about diagnosis and treatment for people with. Hypokalemic periodic paralysis is an autosomaldominant disorder caused most commonly by mutations in the alpha subunit of the skeletal muscle calcium channel gene cav1. Periodic paralysis electrolyte disturbance, k, mg, ca hypokalemic periodic paralysis. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Request pdf hyperkalemic periodic paralysis available from. These episodes can last from a few minutes to a few days, depending on. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Periodic paralyses pps are rare inherited channelopathies that manifest as. Hypokalemic periodic paralysis conditions gtr ncbi. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory failure, or if the low. Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation labs.
It should be excluded in patients presenting after age 20 years or without a family history, by looking for a suppressed thyroid. 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. Hypokalemic periodic paralysis hokpp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. Hypokalemic periodic paralysis is characterized by episodes of muscle paralysis lasting from a few to 48 h, associated with a decrease in serum potassium levels, in the absence of myotonia. This series summarizes the clinical and metabolic features of 10 patients who presented to the western and sunshine hospitals in melbourne, australia, between 1997 and 2002 with thyrotoxic periodic paralysis tpp. We studied the incidence, etiology, clinical profile, and acidbase disturbances in patients presenting with hypokalemic paralysis and analyzed the significance of periodic and non periodic forms. Unlike in hyperakalemic periodic paralysis, emg does not usually show myotonia. 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. Introduction hypokalemic periodic paralysis hopp is a wellknown clinical entity, but many etiological and neurophysiological problems remain. Clinical profile in hypokalemic periodic paralysis cases abstract the present article was aimed to study demographic and clinical pattern, periodicity and precipitating events for hypokalemic paralysis and to assess the response to treatment both during acute attacks and as prophylaxis in comparison with available literature. Permanent weakness may persist between attacks, usually beginning in middle age and progressing slowly over years. Periodicparalysis differential diagnosis and important.
Hypokalemic periodic paralysis genetic and rare diseases. Outline causes of primary periodic paralysis causes of secondary periodic paralysis presentation of hyperkalemic pp comparison between hyper pp vs hypo pp. Hypokalaemia periodic paralysis liam j stapleton, 2018. Periodic paralyses hyperkalemic, hypokalemic, andersentawil. Hypokalemic periodic paralysis is a disorder characterized by episodes of weakness, sparing the respiratory muscles, with a matching fall in serum potassium that lasts anywhere from a few hours to a few days. Thyrotoxic periodic paralysis resembles hypokalemic periodic paralysis, except that it occurs sporadically and the associated hypokaliemia is often profound. Hypokalemic periodic paralysis periodic paralysis i an ad condition of late onset that is more intense in and occurs following strenuous exercise or carbohydrate meals, affecting the extremities, respiratory and cardiac muscle, potentially causing ventricular tachycardia and premature ventricular contractions treatment kcl, acetazolamide.
Hyperkalemic periodic paralysis causes episodes of extreme muscle weakness, with attacks often beginning in childhood. Clinical and etiological spectrum of hypokalemic periodic paralysis. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Journal of contraceptive studies imedpub journals 2016. Elbaz a, valesantos j, jurkatrott k, lapie p, ophoff ra, bady b, et al. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Hypokalemic periodic paralysis is a channelopathy caused by defective sodium, calcium or potassium ionchannels. The weakness may be limited to muscle groups or may present as severe muscle paralysis. During an attack of weakness, the fiber fails to maintain a normal resting potential and in this depolarized state the fiber is persistently refractory, unable to generate an action potential figure 73. Clinical and biochemical spectrum of hypokalemic paralysis in. Age it tends to present in the second decade of life but may be in the first decade with more severe disease and the third decade in milder cases. Hypokalemic and normokalemic are two kinds of this genetic problem. The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis.
Hypokalemic periodic paralysis genetics home reference nih. Dietary guidelines for hypokalemic periodic paralysis. Approval was based on 2 randomized, doubleblinded placebocontrolled studies that included 8 patients. This form of paralysis is associated with low potassium levels.
The primary pp is due to inherited ion channel defects while secondary pp is due to other medical conditions like thyrotoxicosis. I report a case of a 33yearold caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Oct 19, 2011 hypokalaemic periodic paralysis hokpp has a prevalence of 1 case per 100,000 population. Segal md phd1, karin jurkatrott md phd2, jacob levitt md3, frank lehmannhorn md phd2 1 simulconsult inc. Ion channels are tiny pores openings that allow ions molecules like sodium and calcium to move through the cell membrane. A 32yearold woman who had been diagnosed with pbc at our hospital was found to have hypokalemia due to repeated fatigue for 2 years, and the etiology was unknown. The first attack usually occurs in childhood or adolescence. There are two forms of hypokpp, a paralytic form and a myopathic form.
Apr 30, 2018 ryan dp, da silva mr, soong tw, et al. The most common form of periodic paralysis in humans is hypokalemic periodic paralysis and is reported to have the prevalence of 1 in 100,000 births, but can be fatal if not treated 1. Attacks are more severe than in hyperakalemic periodic paralysis. Hypokalemic periodic paralysis hypopp or hypokpp is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Background hypokalemia is a wellknown, consistent finding in thyrotoxic. Journal of translational medicine commentary open access practical aspects in the management of hypokalemic periodic paralysis jacob o levitt1,2 address. Familial periodic paralysis genetic and rare diseases. Hypokalemic periodic paralysis an overview sciencedirect. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Periodic paralysis definition of periodic paralysis by. The mechanism responsible for the onset of paralytic attacks, during which serum potassium decreases, and the real nature of the ensuing neurophysiological changes remain debatable. In the hypokalemic periodic paralyses hypopp serum potassium falls below.
Treatment of hypokalemic periodic paralysis with topiramate treatment of hypokalemic periodic paralysis with topiramate fiore, darren m strober, jonathan b. Familial periodic paralyses information page national. The patients paralysis resolved upon repletion of his low potassium and he was. Periodic paralysis an overview sciencedirect topics. The two most common types of periodic paralyses are. Various laboratory examinations outside of ictal and interictal serum potassium measures play an important role in both diagnosis and management of hypokalemic periodic paralysis. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. 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. However, you will still need to take your potassium tablets as prescribed by your doctor. 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. Periodic paralyses hyperkalemic, hypokalemic, andersen. Enable javascript to view the expandcollapse boxes. Hyperkal periodic paralysis triggers open anesthesia.
The medical name for low potassium level is hypokalemia. Hypokalaemic paralysis postgraduate medical journal. Uncovering periodic paralysis for more information, please visit. 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. Hypokalemic periodic paralysis support and info group. Hypokalemia a decreased potassium level in the blood is usually present during attacks. Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis.
Attacks cause severe weakness or paralysis that usually lasts from hours to days. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Pdf hypokalemic periodic paralysis hpp is a rare autosomal dominant channelopathy characterized by skeletal muscle weakness or. Statland jm, fontaine b, hanna mg, johnson ne, kissel jt, sansone va, et al. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Hypokalemic periodic paralysis an owners manual michael m. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. Clinical profile in hypokalemic periodic paralysis cases. Clinical and metabolic features of thyrotoxic periodic paralysis in. Hypokalemic periodic paralysis support and info group home. Introduction hypokalemic periodic paralysis hpp is characterized by muscle weakness secondary to low serum potassium levels. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Treatment for periodic paralysis sansone, v 2004 cochrane. Hypokalemic paralysis often referred to as familial is caused.
Hyperkalemic periodic paralysis request pdf researchgate. There are several ways that this mineral deficiency can cause weakness and fatigue. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. Prophylactic treatment is necessary when the attacks are frequent. Specifically, ekg, tsh, free t3, and free t4 are the minimum indicated labs, with renal and adrenal function also recommended. Hypokalemic periodic paralysis and the dihydropyridine receptor cacnl1a3. Acute hypokalaemic paralysis, a clinical syndrome characterised by acute systemic weakness and low serum potassium, is a rare but treatable. Periodic paralyses hyperkalemic, hypokalemic, andersentawil syndrome what is periodic paralysis. Practical aspects in the management of hypokalemic periodic. 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.
A rare heterogeneous group of disorders which is characterized by a sudden onset of reversible muscle paralysis. Hypokalemic periodic paralysis hypokalemic pp can begin anywhere from early childhood to the 30s, with periodic attacks of severe weakness lasting hours to days. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Depending on the type and severity of the hyperkpp, it can increase or stabilize until the fourth or fifth decade where attacks may cease, decline, or, depending on the type, continue on into old age. Familial periodic paralysis msd manual professional edition. Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis.
Laboratory evaluation revealed a markedly low potassium level. Thyrotoxic periodic paralysis tpp is an uncommon disorder. The different types of periodic paralyses are distinguished by what happens to potassium levels in the blood specifically the serum, or fluid, portion of the blood. Acute systemic weakness is a common complaint in the emergency department and has a wide differential diagnosis that includes neurologic, metabolic, and infectious aetiologies box fb1. Mutations in potassium channels appear to combine with other factors to produce the clinical.
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