Hypokalemic periodic paralysis is an autosomaldominant disorder caused most commonly by mutations in the alpha subunit of the skeletal muscle calcium channel gene cav1. The two most common types of periodic paralyses are. 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. Hypokalemia a decreased potassium level in the blood is usually present during attacks. Permanent weakness may persist between attacks, usually beginning in middle age and progressing slowly over years. 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. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Periodic paralysis and voltagegated ion channels kidney. 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. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. 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.
The patients paralysis resolved upon repletion of his low potassium and he was. Background hypokalemia is a wellknown, consistent finding in thyrotoxic. Attacks are more severe than in hyperakalemic periodic paralysis. Hypokalemic periodic paralysis an owners manual michael m. Clinical profile in hypokalemic periodic paralysis cases. Clinical and metabolic features of thyrotoxic periodic paralysis in. Hypokalemic periodic paralysis genetics home reference nih. Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. Hypokalemic periodic paralysis is a rare heterogeneous disorder. Hypokalemic periodic paralysis is a channelopathy caused by defective sodium, calcium or potassium ionchannels. For a general phenotypic description and a discussion of genetic heterogeneity of hokpp, see hokpp1, which is. Acute hypokalaemic paralysis, a clinical syndrome characterised by acute systemic weakness and low serum potassium, is a rare but treatable.
Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Oct 19, 2011 hypokalaemic periodic paralysis hokpp has a prevalence of 1 case per 100,000 population. Hypokalemic periodic paralysis support and info group home. 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. 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 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. Sinai medical center, new york, usa 5 june 2009 this article focuses on questions that arise about diagnosis and treatment for people with. Thyrotoxic periodic paralysis clinical diagnosis and management. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Its the most common of several genetic disorders that cause periodic paralysis.
Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Periodicparalysis differential diagnosis and important. Practical aspects in the management of hypokalemic periodic. The weakness may be limited to muscle groups or may present as severe muscle paralysis. These episodes can last from a few minutes to a few days, depending on.
The patient presented with sudden onset paralysis of his extremities. Hypokalemic paralysis often referred to as familial is caused. Approval was based on 2 randomized, doubleblinded placebocontrolled studies that included 8 patients. Specifically, ekg, tsh, free t3, and free t4 are the minimum indicated labs, with renal and adrenal function also recommended. Request pdf hyperkalemic periodic paralysis available from. However, you will still need to take your potassium tablets as prescribed by your doctor. The primary pp is due to inherited ion channel defects while secondary pp is due to other medical conditions like thyrotoxicosis. Patients with periodic paralysis had significant incidence of rebound hyperkalemia. Voltagesensor sodium channel mutations cause hypokalemic. Inhereted disorder usually a genetic defect in the calcium channel. Unlike in hyperakalemic periodic paralysis, emg does not usually show myotonia. There are several ways that this mineral deficiency can cause weakness and fatigue.
Hypokalemic and normokalemic are two kinds of this genetic problem. Enable javascript to view the expandcollapse boxes. Hypokalemic periodic paralysis conditions gtr ncbi. Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. 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. Apr 30, 2018 ryan dp, da silva mr, soong tw, et al. Jul, 2017 familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Hypokalemic periodic paralysis an overview sciencedirect topics. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium. 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. Hypokalaemic paralysis postgraduate medical journal. Pdf hypokalemic periodic paralysis hpp is a rare autosomal dominant channelopathy characterized by skeletal muscle weakness or.
Hypokalaemia periodic paralysis liam j stapleton, 2018. Ion channels are tiny pores openings that allow ions molecules like sodium and calcium to move through the cell membrane. 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. Laboratory evaluation revealed a markedly low potassium level. Nonperiodic form of hypokalemic paralysis was the most common variant in our study. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates.
Periodic paralyses hyperkalemic, hypokalemic, andersen. 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. Sjogrens syndrome was found to be the etiology in three she gave a history of. Hyperkalemic periodic paralysis request pdf researchgate. 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. Moxley iii, chad heatwole, in swaimans pediatric neurology sixth edition, 2017. Thyrotoxic periodic paralysis resembles hypokalemic periodic paralysis, except that it occurs sporadically and the associated hypokaliemia is often profound. Periodic paralyses hyperkalemic, hypokalemic, andersentawil. Episodes typically involve a temporary inability to move muscles in the arms and legs.
Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation labs. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory failure, or if the low. Hypokalemic periodic paralysis is a rare and dramatic complication of hyperthyroidism. A rare heterogeneous group of disorders which is characterized by a sudden onset of reversible muscle paralysis. There are two forms of hypokpp, a paralytic form and a myopathic form. Segal md phd1, karin jurkatrott md phd2, jacob levitt md3, frank lehmannhorn md phd2 1 simulconsult inc. 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 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. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults.
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. Elbaz a, valesantos j, jurkatrott k, lapie p, ophoff ra, bady b, et al. 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. Periodic paralysis is caused by a transient failure of muscle fiber excitability 4,5. Hypokalemic periodic paralysis hypokalemic pp can begin anywhere from early childhood to the 30s, with periodic attacks of severe weakness lasting hours to days.
He developed a progressive disabling tetraparesis and died in the fourth decade of life. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. 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. Various laboratory examinations outside of ictal and interictal serum potassium measures play an important role in both diagnosis and management of hypokalemic periodic paralysis. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Introduction hypokalemic periodic paralysis hopp is a wellknown clinical entity, but many etiological and neurophysiological problems remain.
In the hypokalemic periodic paralyses hypopp serum potassium falls below. The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis. 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. Periodic paralysis definition of periodic paralysis by. Familial periodic paralyses information page national. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Hyperkalemic periodic paralysis causes episodes of extreme muscle weakness, with attacks often beginning in childhood. Journal of contraceptive studies imedpub journals 2016. It is classified as hypokalemic or hyperkalemic periodic paralysis according to serum potassium levels during attacks. Hypokalemic periodic paralysis and the dihydropyridine receptor cacnl1a3.
Review of the diagnosis and treatment of periodic paralysis. Hypokalemic periodic paralysis support and info group. 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. 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.
The frequency of attacks generally lessens in the 40s or 50s. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. 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. Journal of translational medicine commentary open access practical aspects in the management of hypokalemic periodic paralysis jacob o levitt1,2 address. Dietary guidelines for hypokalemic periodic paralysis. Mutations in the scn4a gene can also cause hyperkalemic periodic paralysis hypp. Hypokalemic pp may be familial with autosomal dominant inheritance or may be acquired in patients with thyrotoxicosis 27. This form of paralysis is associated with low potassium levels.
Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Prophylactic treatment is necessary when the attacks are frequent. Introduction hypokalemic periodic paralysis hpp is characterized by muscle weakness secondary to low serum potassium levels. The medical name for low potassium level is hypokalemia. Clinical and etiological spectrum of hypokalemic periodic paralysis. 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. Periodic paralysis electrolyte disturbance, k, mg, ca hypokalemic 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. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. The first attack usually occurs in childhood or adolescence. Familial periodic paralysis genetic and rare diseases. 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. Periodic paralyses pps are rare inherited channelopathies that manifest as. Outline causes of primary periodic paralysis causes of secondary periodic paralysis presentation of hyperkalemic pp comparison between hyper pp vs hypo pp.
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. 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. Hypokalemic periodic paralysis an overview sciencedirect. Attacks cause severe weakness or paralysis that usually lasts from hours to days.
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. Hyperkal periodic paralysis triggers open anesthesia. 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. Treatment of hypokalemic periodic paralysis with topiramate treatment of hypokalemic periodic paralysis with topiramate fiore, darren m strober, jonathan b. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Periodic paralysis an overview sciencedirect topics.
Uncovering periodic paralysis for more information, please visit. Familial periodic paralysis msd manual professional edition. Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies 1. Clinical and biochemical spectrum of hypokalemic paralysis in.
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. Mutations in potassium channels appear to combine with other factors to produce the clinical. 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. Hypokalemic periodic paralysis genetic and rare diseases. Hypokalemic periodic paral trigger open anesthesia. Isoform specific knockout of mbnl1 ctg n or cctg n gene cug n or ccug n. 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. Statland jm, fontaine b, hanna mg, johnson ne, kissel jt, sansone va, et al. Hypokalemic periodic paralysis 5minute clinical consult. Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis.
I report a case of a 33yearold caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Thyrotoxic periodic paralysis tpp is an uncommon disorder. Sodium channel gene mutations in hypokalemic periodic paralysis. 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. 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. Hypokalemic periodic paralysis hokpp is a rare neuromuscular disorder caused by. Hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Individuals with this mutation, attacks sometimes begin in. 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.
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. Caused at least partly by mutations in sodium channel nav1. Treatment for periodic paralysis sansone, v 2004 cochrane. Thyrotoxic hypokalemic periodic paralysis tpp is characterized by.
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