Hypokalemic periodic paralysis online mendelian inheritance in man. Hypokalaemic paralysis postgraduate medical journal. This form of paralysis is associated with low potassium levels. Episodes typically involve a temporary inability to move muscles in the arms and legs. Hypokalemic and normokalemic are two kinds of this genetic problem. The periodic paralyses are generally divided into hyperkalemic periodic paralysis, hypokalemic periodic paralysis. 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. Histories were obtained on 79 family members in four generations. Periodic paralyses hyperkalemic, hypokalemic, andersen. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium. Because the familial inheritance in the family was initially unknown, thorough diagnostic tests were performed including contrastenhanced. Clinical profile in hypokalemic periodic paralysis cases electronic. Familial periodic paralysis msd manual professional edition.
Hypokalemic periodic paralysis genetic and rare diseases. 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. Elbaz a, valesantos j, jurkatrott k, lapie p, ophoff ra, bady b, et al. 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. Dietary guidelines for hypokalemic periodic paralysis. Five generations of a family with hypokalemic periodic paralysis hopp were studied. Symptoms mimicking those of hypokalemic periodic paralysis.
I report a case of a 33yearold caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Emerson, plus many other medical authorities, those with hypokpp should follow a diet which is high in protein, low. Familial periodic paralysis genetic and rare diseases. Review of the diagnosis and treatment of periodic paralysis. Several inciting factors have been associated with episodes of familial periodic paralysis including strenuous exercise, hypothermia, and. Primary hypokalemic periodic paralysis indian pediatrics. Hypokalaemic paralysis is a relatively uncommon but potentially lifethreatening clinical syndrome. Two cases of familial hypokalemic periodic paralysis in negro brothers occurred, andbecause this has been reported to be an unusual disease among blacksthe family pedigree was investigated. Hypokalemic periodic paral trigger open anesthesia. In people with familial hypokalemic periodic paralysis, however, the drop in blood potassium often triggers an episode of paralysis.
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Familial hypokalemic periodic paralysis fhopp is a rare, dominantly inherited disease, the diagnosis of which may require the induction of paralysis. Fulltext pdf insulinmediated hypokalemia and paralysis in familial hypokalemic periodic paralysis. Diagnosis of familial hypokalemic periodic paralysis. However, you will still need to take your potassium tablets as prescribed by your doctor. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. A small proportion of hypokalemic periodic paralysis cases are associated with mutations at codons 669 and 672 hypopp2. Threedimensional reconstructions of computed tomographic images are used to define the anatomic anomaly and are useful when planning surgical approaches. 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. Familial hypokalemic periodic paralysis is characterized by periodic attacks of muscle weakness due to decreases in serum potassium. Surface emg has been used to determine the average muscle fiber conduction velocity mfcv and power spectra of the m. Familial periodic paralysis pediatrics merck manuals. Bilateral vocal fold paralysis secondary to familial hypokalemic periodic paralysis insulinmediated hypokalemia and paralysis in familial hypokalemic periodic paralysis a novel kir2.
The patients paralysis resolved upon repletion of his low potassium. A small proportion of hypokalemic periodic paralysis cases are. According to the nih physicians and dietician mary r. Two new cases were found in the third generation and 12 in the fourth generation. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. 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, carbohydrate load, infection, glucose infusion, hypothermia, metabolic alkalosis, anesthesia, and steroids. 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. Familial hypokalemic periodic paralysis in pregnancy.
Potassium levels in the blood can remain low as muscle is recovering from a recent attack. Hypokalemic pp may be familial with autosomal dominant inheritance or may be acquired in patients with thyrotoxicosis 27. Hypokalemic periodic paralysis may be familial fhypopp or sporadic. Bilateral vocal fold paralysis secondary to familial. Rhabdomyolysis following severe hypokalemia caused by familial. The familial periodic paralyses and nondystrophic myotonias. No relevant personal or familial history, except for delayed tooth eruption and oligodontia. All forms of familial pp show the final mechanistic pathway involving aberrant. Twenty seven 34% had symptoms of periodic paralysis or weakness. Management considerations in hypokalemic periodic paralysis include accurate diagnosis, potassium dosage for acute attacks, choice of diuretic for prophylaxis, identification of triggers, creating a safe physical environment, perioperative measures, and issues in pregnancy. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Mutations have been found in three ion channels for hypokalemic familial periodic paralysis cacna1s, scn4a, and kcnj2. Hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
A large family with hypokalemic periodic paralysis was reexamined after 50 years. A biopsy of vastus lateralis muscle was performed during a paralytic attack induced with glucose and insulin in a patient with primary hypokalemic periodic paralysis. The first attack usually occurs in childhood or adolescence. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates. The ninds conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. Mda is currently funding 11 grants in the periodic paralyses. Its the most common of several genetic disorders that cause periodic paralysis. Practical aspects in the management of hypokalemic. The patient presented with sudden onset paralysis of his extremities. A kindred in which 7 males and 2 females exhibit hypokalemic periodic paralysis has been intensively studied by chemical analyses of skeletal muscle, serial measurements of body composition, and electromyography. Familial hypokalemic periodic paralysis in blacks annals. Hypokalemic periodic paralysis due to graves disease the. During the attack the examination revealed weakness predominantly in. This consisted of elevated total creatinine phosphokinase cpk, an increased myocardial fraction of cpk myocardial band, alteration in the lactic dehydrogenase isoenzyme pattern, severe bradycardia, and evidence of left ventricular dysfunction.
A 19yearold white man with familial hypokalemic periodic paralysis developed evidence of cardiac dysfunction during a episode of flaccid paralysis. 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. Periodic paralyses hyperkalemic, hypokalemic, andersentawil syndrome what is periodic paralysis. Hypokalemic periodic paralysis and the dihydropyridine receptor cacnl1a3.
The medical name for low potassium level is hypokalemia. Familial or phpp is an autosomal dominant disorder with incomplete pene trance in females or rarely sporadic in 20% of the cases. Of the 120 screened family members, 64 were found to have hopp of. If recognised and treated appropriately, patients recover without any clinical sequellae. In hypokalemic familial periodic paralysis, the factors. 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 pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. We studied whether the increase in plasma potassium concentration during exercise can be used in the diagnosis of fhopp. Periodicparalysis differential diagnosis and important. Familial hypokalemic paralysis is one of the most important causes of hypokalemic periodic paralysis among caucasians 3, and thyrotoxic periodic paralysis is the leading cause of hypokalemic.
Hypokalemic periodic paralysis case journal of reproductive. Primary periodic paralyses include hypokalemic paralysis hypopp. Hyperkalemic periodic paralysis genetics home reference. 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. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. 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. The values of adenosine triphosphatase and 45ca uptake by the sarcoplasmic reticulum were abnormally low. Diet for patients with hypokalemic periodic paralysis. The syndrome of hypokalaemic paralysis represents a heterogenous group of disorders characterised clinically by hypokalaemia and acute systemic weakness. Approval was based on 2 randomized, doubleblinded placebocontrolled studies that included 8 patients.
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. In this case, a five yearold girl without a similar history in the family, having hypokalemic periodic paralysis attacks without an obvious trigger factor is. Changes to your diet may help reduce the frequency of episodes of paralysis. Hypokalaemia periodic paralysis liam j stapleton, 2018. 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. The weakness may be limited to muscle groups or may present as severe muscle paralysis. Hypokalemic pp may be familial with autosomal dominant. This family now includes 28 affected patients in four generations. In conclusion, familial hypokalemic periodic paraly sis is a clinical entity transmitted by autosomal domi nant inheritance and characterized by 1 permanent muscle weakness at older age, eventually present in 100% of the patients independent of paralytic attacks. Hypokalemic periodic paralysis hypopp or hypokpp is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. 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. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.
Most often, these episodes involve a temporary inability to move muscles in the arms and legs. In hypopp2, sodium channel mutations enhance inactivation to produce a net loss of function defect. Hypokalemic periodic paralysis genetics home reference nih. Periodic paralysis pp is a rare neuromuscular disorder related to a. Pdf the muscle fiber conduction velocity and power. Periodic paralysis is an autosomal dominant myopathy with considerable variation in penetrance, leading to a spectrum of familial phenotypes only one parent needs to carry the gene mutation to affect the children, but not all family members who share the gene are affected to the same degree. Familial periodic paralyses information page national. Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis.
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