Clinical profile in hypokalemic periodic paralysis cases electronic. 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 and steven johnsons syndrome case management free download as powerpoint presentation. Vomiting, diarrhea were important precipitating factors. He developed a progressive disabling tetraparesis and died in the fourth decade of life. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Periodic paralyses hyperkalemic, hypokalemic, andersen. Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. Pdf hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated. Elbaz a, valesantos j, jurkatrott k, lapie p, ophoff ra, bady b, et al. A medline search was conducted for articles published during the last 40 yr based on the key words thyrotoxic periodic paralysis and hypokalemic periodic paralysis. A simple and rapid approach to hypokalemic paralysis. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move.
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. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Prophylactic treatment is necessary when the attacks are frequent. Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. Hypokalemia with paralysis hp is a potentially reversible medical emer gency. The underlying hyperthyroidism is often subtle causing difficulty in early diagnosis. Hypopp is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic. Hypokalemic periodic paralysis hypopp was considered. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Emerson, plus many other medical authorities, those with hypokpp should follow a diet which is high in protein, low.
It is classified as hypokalemic or hyperkalemic periodic paralysis according to serum potassium levels during attacks. The most common form of periodic paralysis in humans is hypokalemic periodic paralysis and is reported to have the prevalence of 1. Periodic paralyses hyperkalemic, hypokalemic, andersentawil. Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis.
Hypokalemic periodic paralysis genetic and rare diseases. Hyperkalemic periodic paralysis genetic and rare diseases. Apr 30, 2018 treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. Primary periodic paralyses include hypokalemic paralysis hypopp, hyperkalemic paralysis hyperpp, and andersen. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. Hypokalemic periodic paralysis type 1 is the most frequent form of periodic paralysis with an estimated prevalence of 1100 000. 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. The syndrome of hypokalaemic paralysis represents a heterogenous group of disorders characterised clinically by hypokalaemia and acute systemic weakness. Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. Mda is currently funding 11 grants in the periodic paralyses. Periodicparalysis differential diagnosis and important. Journal of contraceptive studies imedpub journals 2016.
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. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. The frequency of attacks generally lessens in the 40s or 50s. 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. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. However, you will still need to take your potassium tablets as prescribed by your doctor. Hypokalemic periodic paralysis periodic paralysis association. Hypokalemic periodic paralysis conditions gtr ncbi.
All patients with hypokalemic periodic paralysis should be tested for thyrotoxicosis. Hypokalemic periodic paralysis is a neuromuscular disorder usually seen as familial autosomal dominant or sporadic with hyperthyroidism. Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. Patients with periodic paralysis had significant incidence of rebound hyperkalemia. Nov 25, 2014 hypokalemic periodic paralysis prevelance 1. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. Clinical and aetiological spectrum of hypokalemic flaccid paralysis. Hypokalaemic paralysis is a relatively uncommon but potentially lifethreatening clinical syndrome. Episodes typically involve a temporary inability to move muscles in the arms and legs. 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. 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. For those taking acetazolamide, the following are indicated every three months. The condition may be lifethreatening if weakness of the breathing muscles leads to respiratory.
The primary pp is due to inherited ion channel defects while secondary pp is due to other medical conditions like thyrotoxicosis. Printable pdf version download here dec 2017 this article focuses on questions that arise about diagnosis and treatment for people with hypokalemic periodic paralysis. Non periodic form of hypokalemic paralysis was the most common variant in our study. Some patients can forestall an impending attack with mild exercise. 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. Periodic paralysis syndrome hypokalemic, symptoms, types. A rare heterogeneous group of disorders which is characterized by a sudden onset of reversible muscle paralysis.
Thyrotoxic periodic paralysis resembles hypokalemic periodic paralysis, except that it occurs sporadically and the associated hypokaliemia is often profound. Hypokalemic periodic paralysis, familial rare, usually sodiumchannel. Primary hypokalemic periodic paralysis jimmy jaworski is a 16yearold sprinter on the high. 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 case journal of reproductive. The first attack usually occurs in childhood or adolescence. Hypokalemic periodic paralysis genetics home reference nih. Hypokalemic periodic paralysis is a rare and dramatic complication of hyperthyroidism. During a fiveyear period the patients otherwise mild course of disease was.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Hypokalemic paralysis was predominantly seen in younger males. It should be excluded in patients presenting after age 20 years or without a family history, by looking for a suppressed thyroid. Hypokpp is one of a group of diseases, called inherited myopathies, that causes problems with the tone and contraction of skeletal muscles. These episodes can last from a few minutes to a few days, depending on. Hypokalaemia periodic paralysis liam j stapleton, 2018. Hpp were diagnosed if there was spot24 hour urine potassium excretion. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia.
Periodic paralysis an overview sciencedirect topics. Hypokalemic periodic paralysis is a channelopathy caused by defective sodium, calcium or potassium ionchannels. Twelve patients with hypokalemic periodic paralysis were treated with acetazolamide in a placebocontrolled trial. Familial periodic paralyses information page national. Hypokalemic and normokalemic are two kinds of this genetic problem. The periodic paralyses are generally divided into hyperkalemic periodic paralysis, hypokalemic periodic paralysis.
Hypokalemic periodic paralysis and the dihydropyridine receptor cacnl1a3. 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. Clinical patients with hypokalemic periodic paralysis present in their teenage years with attacks of periodic weakness. As in all forms of periodic paralysis, episodes of weakness in hypokpp are caused by a temporary loss of muscle excitability. Changes to your diet may help reduce the frequency of episodes of paralysis. According to the nih physicians and dietician mary r. Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. Periodic neurologic examination with attention to muscle strength in the legs should be performed to detect longlasting weakness associated with myopathy. In both forms, it presents with weakness in the lower extremity in the morning. After the most recent meet, he was unable to walk and had to be carried from the track on a stretcher. Mar 27, 2019 hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. The clinical syndrome of periodic paralysis is typically described as consisting of tempo rary weakness of skeletal muscle in individuals who are normal.
Hypokalemic periodic paralysis an overview sciencedirect. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. Hypokalemic periodic paralysis hypokalemic pp can begin anywhere from early childhood to the 30s, with periodic attacks of severe weakness lasting hours to days. 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. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Primary hypokalemic periodic paralysis jimmy jaworski is a 16yearold sprinter on the high school track team. Hypokalemia a decreased potassium level in the blood is usually present during attacks. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium. Laboratory evaluation revealed a markedly low potassium level. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Inheritance is autosomal dominant with reduced penetrance in women fontaine, 1994. Nov 10, 2017 primary periodic paralyses pps are rare autosomal.
Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Acetazolamide treatment of hypokalemic periodic paralysis. A detailed workup revealed nonanion gap metabolic acidosis renal tubular acidosis, positive autoimmune markers, normal complement levels, high globulin levels, elevated esr, proteinuria and a positive schirmers test. The medical name for high potassium level is hyperkalemia.
Secondary hypokalemic periodic paralysis usually results from intracellular potassium depletion from renal, endocrine, gastrointestinal, or drug. Symptoms mimicking those of hypokalemic periodic paralysis. The patient presented with sudden onset paralysis of his extremities. Diet for patients with hypokalemic periodic paralysis. Approximately onethird of cases may be new dominant mutations m. 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. Cacna15 gene was sent for the diagnosis of the patient. 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. A clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. Hypokalemic periodic paralysis is a disorder of muscle whereby voltagegated ion channels typically calcium or sodium, and less frequently potassium are mutated, resulting in abnormalities of sarcolemmal excitation. If recognised and treated appropriately, patients recover without any clinical sequellae. Dietary guidelines for hypokalemic periodic paralysis. Hypokalemic periodic paralysis children with permanent myopathic weakness.
Differential diagnosis and important diagnostic tests periodic. It is characterized by episodes of flaccid and sudden muscle weakness. Hypokalemic periodic paralysis and steven johnsons. Practical aspects in the management of hypokalemic periodic. Individuals with this mutation, attacks sometimes begin in. Whereas the majority had failed to improve with previous therapy, 10 of the 12 patients were dramatically improved by acetazolamide. 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 respiratory muscles and heart. Hypokalemic periodic paralysis what is hypokalemic periodic paralysis hypokpp. 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. Clinical features hypokalaemic periodic paralysis mim170400 hypopp is the most common pp, with a prevalence of. 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. Usually these underlying conditions are obvious, but in less clear cases the recurrent episodes of transient weakness can be difficult to distinguish from primary.
My 3rd case management on hypokalemic periodic paralysis and steven johnsons syndrome. The patients paralysis resolved upon repletion of his low potassium and he was. Apr 30, 2018 a clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. 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. Attacks are provoked by cold, carbohydrate ingestion, alcohol, emotional stress, and rest after exercise. Factors like highcarbohydrate meal exercise, steroid, and stress can. Acute hypokalaemic paralysis, a clinical syndrome characterised by acute systemic weakness and low serum potassium, is a rare but treatable cause of acute weakness.
Hypokalemic periodic paralysis hypopp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia serum potassium hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. 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 potassium levels lead to. Recently, after he completed his events, he felt extremely weak, and his leg became like rubber. For more on the periodic paralyses, please see the 2009 report in focus. Hypokalemic paralysis often referred to as familial is caused. This response has been maintained for periods of 16 to 43 months with minimal or no side effects.
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 medical name for low potassium level is hypokalemia. Thyrotoxic periodic paralysis tpp, a disorder most commonly seen in asian men, is characterized by abrupt onset of hypokalemia and paralysis. Review of the diagnosis and treatment of periodic paralysis. Myotonic activity in the emg favors the diagnosis of hyperkalemic periodic paralysis and speaks up against the hypokalemic form. The first page of the pdf of this article appears above. 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. Eating, especially carbohydrates, made him feel worse. Treatment of thyrotoxicosis is adequate to prevent recurrent. It is primarily the result of either hypokalemic periodic paralysis. Permanent weakness may persist between attacks, usually beginning in middle age and progressing slowly over years. Hypokalaemic paralysis postgraduate medical journal. Hyperkalemic periodic paralysis is a genetic disease that causes episodes of extreme muscle weakness and an increase of the potassium levels in the blood. 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.
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