Segal md phd 1, karin jurkatrott md phd 2, jacob levitt md 3, frank lehmannhorn md phd 2 1 simulconsult inc. Introduction a group of disorders of different etiologies with episodic, shortlived, and hyporeflexic skeletal muscle weakness with or without myotonia without sensory deficit without loss of consciousness. Periodic paralysis pp is a rare group of clinical syndromes characterized by episodes of. Features of hypokalemic periodic paralysis there are two forms of hypokpp, a paralytic form and a myopathic form. Periodic paralysis dr abdullah ansari pg2 medicine amu aligarh 2. Managing periodic paralysis 101 jacob levitt, md, faad. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia.
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation labs. General information about hypokalemic periodic paralysis. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. A variety of mutations in sodium, calcium, and potassium channel genes in muscle have been reported to cause hypokalemic periodic paralysis. Hypokalemic periodic paralysis genetics home reference nih. It can be hypokalemic, triggered by too little potassium in the body, or hyperkalemic, triggered by too much potassium. The frequency of attacks generally lessens in the 40s or 50s. Hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Misdiagnosis and delays in diagnosis are common because symptoms. Hypokalemic and normokalemic are two kinds of this genetic problem. Hypokalemic paralysis often referred to as familial is caused. Hypokalemic periodic paralysis abbas h, kothari n, bogra j natl j. Kritisk informasjon hypokalemisk periodisk paralyse alert.
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. Hypokalemic periodic paralysis hpp is a kind of periodic paralysis, which is a heterogeneous group of muscle diseases. 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 genetic and rare diseases. Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. Periodic paralysis syndrome hypokalemic, symptoms, types. Primary periodic paralysis attacks cause symptoms that affect many parts of the body and can vary in how severe they are and how long they last. Pdf acquired nonthyrotoxic hypokalemic periodic paralysis. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. 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.
Periodic paralyses top level muscular dystrophy association. Primary periodic paralysis ppp is a complex and challenging condition delayed and missed diagnoses primary periodic paralysis ppp can be difficult to diagnose. Some people may have episodes almost every day, while others. Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. A periodic paralysis gene panel test can bring you and your patients closer to uncovering the genetic cause behind the attacks of paralysis and muscle weakness caused by hyperkalemic or hypokalemic periodic paralysis. Myotonic activity in the emg favors the diagnosis of hyperkalemic periodic paralysis and speaks up against the hypokalemic form. It isnt clear how much of a genetic component there is in thyrotoxic periodic paralysis, but recently a potassium channel gene mutation was discovered in some patients with tpp. It is characterized by episodes of flaccid and sudden muscle weakness. The underlying mechanism of these diseases are malfunctions in the ion channels in skeletal muscle cell membranes that. Hypokalemic paralysis, particularly if recurrent, has often been considered synonymous with hypokalemic periodic paralysis hpp. It is an autosomal dominant disorder, with reduced penetrance in women a male to female ratio of 3 or 4 to 1. The frequency of attacks gener ally lessens in the 40s or 50s.
Thyrotoxic periodic paralysis tpp is a rare complication of hyperthyroidism where increased influx of potassium into skeletal muscle cells leads to profound hypokalaemia and paralysis. 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. Most attacks range from 30 minutes to several hours. Hypokalemic periodic paralysis periodic paralysis association. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Episodes tend to increase in frequency until midadulthood, after which they occur less.
Hypokalemic periodic paralysis bilateral vocal fold paralysis secondary to familial hypokalemic periodic paralysis insulinmediated hypokalemia and paralysis in familial hypokalemic periodic paralysis episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis a novel kir2. When physicians say periodic paralysis is only found in asian males this is the type of periodic paralysis they are thinking of. 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. Treatment of hypokalemic periodic paralysis with topiramate.
Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. Hyperkalaemic periodic paralysis hypp is a rare autosomal dominant condition that presents with attacks of muscular weakness, paralysis usually sparing the respiratory muscles and an associated acute rise in plasma potassium up to 8. Primary periodic paralysis diagnosis and management keveyis. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. The medical name for high potassium level is hyperkalemia. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Only one patient with thyrotoxic periodic paralysis tpp and with. These episodes can last from a few minutes to a few days, depending on. The first attack usually occurs in childhood or adolescence. What is periodic paralysis primary periodic paralysis is a rare genetic disorder that involves periods of muscle weakness or paralysis. Hypokalemic periodic paralysis hypopp was considered. 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.
However, some attacks can even last for days, but this is infrequent. Introduction hypokalemic periodic paralysis hpp is characterized by. Grzesiuk ak, pinheiro mm, figueiredo neto n, rosa edo n. Review of the diagnosis and treatment of periodic paralysis. Changes to your diet may help reduce the frequency of episodes of paralysis. Tpp is a common complication of hyperthyroidism in asian men but is increasingly seen in western countries. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Hypokalemic periodic paralysis genetic and rare diseases. Hypokalemic periodic paralysis case journal of reproductive. 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. The patient presented with sudden onset paralysis of his extremities. Periodic paralysis electrolyte disturbance, k, mg, ca hypokalemic periodic paralysis.
Periodic paralysis is a rare hereditary neuromuscular disease characterized by acute attacks with muscle weakness. These genes were curated based on current evidence to provide a comprehensive test for the genetic causes of hypokalemic periodic paralysis. Hypokalemic periodic paralysis as first manifestation. It can help shorten the diagnostic journey and expedite clinical management of the disease. Hypokalemic periodic paralysis hypokalemic pp can begin anywhere from early childhood to the 30s, with periodic attacks of severe weakness lasting hours to days. Hyperkalemic periodic paralysis genetics home reference nih. The patients paralysis resolved upon repletion of his low potassium and he was. Hypokalemic periodic paralysis an overview sciencedirect. Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. Periodic paralyses pps are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel.
The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Dietary guidelines for hypokalemic periodic paralysis. 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 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. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hypokalemic periodic paralysis hokpp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Differential diagnosis and important diagnostic tests periodic. Hypokalemic periodic paralysis type 1 is the most frequent form of periodic paralysis with an estimated prevalence of 1100 000. Periodic paralyses hyperkalemic, hypokalemic, andersentawil syndrome what is periodic paralysis.
Hyperkalemic periodic paralysis with paramyotonia congenita. The weakness may be limited to muscle groups or may present as severe muscle paralysis. Episodes typically involve a temporary inability to move muscles in the arms and legs. Acetazolamide prevents paralytic attacks in both hypokalaemic and hyperkalaemic periodic paralysis. The periodicity of attacks is variable, ranging from daily to only a few attacks a year. 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. Individuals with this mutation, attacks sometimes begin in. Most often, these episodes involve a temporary inability to move muscles in the arms and legs.
Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Clinical and etiological spectrum of hypokalemic periodic paralysis. Cacna15 gene was sent for the diagnosis of the patient. Hypokalemic periodic paralysis, familial rare, usually sodiumchannel. Hypokalemic periodic paralysis periodic paralysis intl. Periodic paralysis an overview sciencedirect topics. However, you will still need to take your potassium tablets as prescribed by your doctor. Laboratory evaluation revealed a markedly low potassium level. Oral potassium chloride, potassium sparing diuretics, and. 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. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move.
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