Individuals with this mutation, attacks sometimes begin in. Vomiting, diarrhea were important precipitating factors. Apr 21, 2008 the hypokalemia in hypokalemic periodic paralysis is due to potassium shifts from blood to muscle. It is primarily the result of either hypokalemic periodic paralysis. 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. Hypokalemic periodic paralysis types 1 and 2 are caused by mutations in the cacnl1a3 and scn4a genes, respectively, and are both inherited in an autosomal dominant fashion. The syndrome of hypokalaemic paralysis represents a heterogenous group of disorders characterised clinically by hypokalaemia and acute systemic weakness.
The patients paralysis resolved upon repletion of his. Primary periodic paralyses include hypokalemic paralysis hypopp, hyperkalemic paralysis hyperpp, and andersen. This information is based on a diet designed at the national institutes of health in the 1960s for a young man with hypokalemic periodic paralysis hypokpp. Hypokalemic paralysis often referred to as familial is caused. The patients paralysis resolved upon repletion of his low potassium and he was. Hypokalemic periodic paralysis is a periodic paralysis without myotonia that varies in severity from mild, infrequent episodes beginning in adult life to prolonged, frequent attacks starting in childhood. Dietary guidelines for hypokalemic periodic paralysis. Cold challenge test tests for hyperpp or pmc no standard protocols exist. Review of the diagnosis and treatment of periodic paralysis. The hypokalemia in hypokalemic periodic paralysis is due to potassium shifts rather than deficit. Hpp were diagnosed if there was spot24 hour urine potassium excretion. Hypokalemic periodic paralysis case journal of reproductive. Severe hypokalemic paralysis and rhabdomyolysis occurring af. Hypopp is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic paralysis.
A clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. Thyrotoxic periodic paralysis tpp, a disorder most commonly seen in asian men, is characterized by abrupt onset of hypokalemia and paralysis. Acute hypokalaemic paralysis, a clinical syndrome characterised by acute systemic weakness and low serum potassium, is a rare but treatable. Periodic paralysis syndrome hypokalemic, symptoms, types. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. Thyrotoxicosis thyrotoxicosis periodic paralysis steroids. Mda is currently funding 11 grants in the periodic paralyses.
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. Pdf hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated. Hypokalaemic paralysis postgraduate medical journal. Thyrotoxic periodic paralysis tpp is an alarming and potentially lethal complication of hyperthyroidism characterized by muscle paralysis and hypokalemia due to a massive intracellular shift of potassium. 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 is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Hypokalemia and paralysis may be due to a shortterm shift of potassium into cells in hypokalemic periodic paralysis hpp or due to a large deficit of potassium in nonhpp. He was admitted to the emergency room due to progressive paralysis in both lower extremities, which had begun 12.
Hypokalemia with paralysis hp is a potentially reversible medical emer gency. Periodic paralysis most often hypopp, but can be hyperpp. Hypokalaemic paralysis is a relatively uncommon but potentially lifethreatening clinical syndrome. The medical name for low potassium level is hypokalemia. Fiona norwood, michael rose, in neurology and clinical neuroscience, 2007. We report a case of severe hypokalemic paralysis and rhabdomyolysis in a 28yearold bodybuilder. Clinical profile in hypokalemic periodic paralysis cases electronic.
Hypokalemia a decreased potassium level in the blood is usually present during attacks. Symptoms of hypokalemia, changes on electrocardiography, severe hypokalemia less than 2. These episodes can last from a few minutes to a few days, depending on. A simple and rapid approach to hypokalemic paralysis. Emerson, plus many other medical authorities, those with hypokpp should follow a diet which is high in protein, low in carbohydrate. The icd9 code for thyrotoxic periodic paralysis 359. Hypopp is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic. The thyroid hormone augments gene transcription and posttranscriptional modification of nak atpase, a cell membrane protein that regulates the electrical potential of the cell. Thyrotoxic periodic paralysis is a rare presentation of thyrotoxicosis where the patient develops a transient motor deficit secondary to acute hypokalemia. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis.
The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory failure, or if the low. Apr 30, 2018 a clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. Changes to your diet may help reduce the frequency of episodes of paralysis. Doses above 200meq over a period of two hours are rarely ever required. Many affected patients do not have obvious symptoms and signs of hyperthyroidism. So, the idea is to administer just enough potassium to induce physiologic resolution of the attack. Hypokalemic periodic paralysis 5minute clinical consult. Hypokalemic periodic paralysis hokpp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia paralysis usually leading to paraparesis or tetraparesis but typically sparing the. Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is precipitated by stress, cold. This is a variant form of hyperpp, which the person to become weak when potassium levels increase during normal variations of potassium.
Hypokalemic paralysis was predominantly seen in younger males. 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. Hypokalemic periodic paralysis conditions gtr ncbi. The hypokalemia in hypokalemic periodic paralysis is due to potassium shifts from blood to muscle. Episodes typically involve a temporary inability to move muscles in the arms and legs. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. Hypokalemic periodic paralysis type 1 is the most frequent form of periodic paralysis with an estimated prevalence of 1100 000. Recently, after he completed his events, he felt extremely weak, and his leg became like rubber.
Twelve patients were found with this icd9 code, but 2 were excluded as they had familial periodic paralysis and no thyrotoxicosis. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. 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. 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.
Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. 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. This condition mainly affects male patients of asian descent. However, you will still need to take your potassium tablets as prescribed by your doctor. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. Its often a secondary problem caused by other deficiencies or diseases, but it may also be a result of a primary congenital disease, such as hypokalemic period polymyopathy. Severe hypokalemia can be a potentially lifethreatening disorder and is associated with variable degrees of skeletal muscle weakness patient concerns.
Hypokalemic periodic paralysis hpp is a rare autosomal dominant channelopathy characterised by muscle weakness or paralysis when there is a fall of potassium level in the blood. Mutations in the scn4a gene can also cause hyperkalemic periodic paralysis hypp. Designed by the national institutes of health this information is based on a diet designed at the national institutes of health in the 1960s for a young man with hypokalemic periodic paralysis hypokpp. Prophylactic treatment is necessary when the attacks are frequent. Symptoms mimicking those of hypokalemic periodic paralysis. Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Hypokalemic periodic paralysis hpp is a relatively common and potentially lifethreating condition that can be either sporadic or recurring and has both inherited and acquired causes. The etiology of hypokalemic paralysis can be categorized generally into 2 groups. Management considerations in hypokalemic periodic paralysis include accurate diagnosis, potassium dosage for acute attacks, choice of. Diet for patients with hypokalemic periodic paralysis. Printable pdf version download here dec 2017 this article focuses on questions that arise about diagnosis and treatment for people with hypokalemic periodic paralysis. Muscle weakness or paralysis with associated hypokalemia though potassium levels can be normal sometimes painful though often painless.
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. Clinical and aetiological spectrum of hypokalemic flaccid paralysis. The clinical syndrome of periodic paralysis is typically described as consisting of tempo rary weakness of skeletal muscle in individuals who are normal. Practical aspects in the management of hypokalemic periodic. I report a case of a 33yearold caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Laboratory evaluation revealed a markedly low potassium level. Practical aspects in the management of hypokalemic. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium.
Hypokalemic periodic paralysis information mount sinai. If recognised and treated appropriately, patients recover without any clinical sequellae. Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. It has been increasingly reported in the usa due to the rise in the immigrant population. It can help shorten the diagnostic journey and expedite clinical management of the disease. One was excluded because their strength was intact. Weakness introduction the primar y periodic paralysis is a rare disease showing autosomal dominant inheritance characterized by recurrent muscle strength loss attacks, and that can occur due to mutations in the sodium na, potassium k or calcium ca channels.
Periodicparalysis differential diagnosis and important. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Myotonic activity in the emg favors the diagnosis of hyperkalemic periodic paralysis and speaks up against the hypokalemic form. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. The periodic paralyses are generally divided into hyperkalemic periodic paralysis, hypokalemic periodic paralysis. Eating, especially carbohydrates, made him feel worse. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Severe hypokalemic paralysis and rhabdomyolysis occurring. Hypokalemic periodic paralysis genetics home reference nih.
May 18, 2017 hypokalemia periodic paralysis 2 or hypopp2. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Apr 30, 2018 treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic 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. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Weakness can be from hand to leg to complete paralysis. Cross sections of both calves of a 44yearold woman with hypokalemic periodic paralysis mutation cav1. Hypokalemic periodic paralysis hpp is a genetic disorder that characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is precipitated by hypotermia. After the most recent meet, he was unable to walk and had to be carried from the track on a stretcher. Emerson, plus many other medical authorities, those with hypokpp should follow a diet which is high in protein, low.
Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. Hypokalemic periodic paralysis hypopp was considered. Thyrotoxic periodic paralysis associated with hypokalemia and hypophosphatemia keith c. Hypokalemic periodic paralysis periodic paralysis association. Hypokalemic periodic paralysis genetic and rare diseases. Hypokalemic periodic polymyopathy is a genetic disease of the burmese and closely related. The involvement of the sarcoplasmic reticulum sr in attacks of hypokalemic periodic paralysis was first documented by electronmicroscopic studies of the affected muscles shy, wanko, rowly and engel 1961. Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hypokalemic periodic paralysis hypopp or hypokpp is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Mri can distinguish between fatty degeneration and muscle edema. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory. Electrocardiogram ecg during this attack showed the characteristic changes of hypokalemia. Hypokalaemia periodic paralysis liam j stapleton, 2018. Thyrotoxic periodic paralysis associated with hypokalemia.
The first attack usually occurs in childhood or adolescence. Journal of contraceptive studies imedpub journals 2016. According to the nih physicians and dietician mary r. Thyrotoxic periodic paralysis associated with hypokalemia and. Medically accurate, uptodate information about the periodic paralyses accessible to patients, caretakers and physicians. The patient presented with sudden onset paralysis of his extremities. This type is the same as hypopp 1, but it is due to sodium channel mutation in the muscles instead of calcium channel mutations. Hypopp is the most common form of periodic paralysis. It is an autosomal dominant disorder, with reduced penetrance in women a male to female ratio of 3 or 4 to 1.
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