Loss or impairment of motor function in a part due to a lesion of the neural or muscular mechanism. Periodic paralysis is caused by a transient failure of muscle fiber excitability 4,5. Unfortunately, there is little data to guide the perioperative care of patients with the lesscommon hyperkalemic disorder. Mercuhev1962 investigations with 42k in familial periodic paralysis, psychi, t. 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. Acetazolamide is an offlabel alternative that is administered at a dose of 1251500 mgd in divided doses. The weakness may be limited to muscle groups or may present as severe muscle paralysis. The syndrome of acute andor repeated paresis, however, can be brought on by a variety of factors, which must be distinguished from. Episodic stiffness hyperkalemicperiodic paralysis hyperkalemicperiodic paralysis with paramyotonia congenita hypokalemic periodic paralysis, familial rare, usually sodium. 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 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. The medical name for low potassium level is hypokalemia.
Spinal anesthesia for a patient with familial hyperkalemic. Pdf periodic paralyses pp are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. Familial hypokalemic periodic paralysis hokpp is an autosomal dominant disorder first described in 1882. Periodic paralysis pp is the name for several rare, inherited muscle disorders marked by temporary weakness, especially following rest, sleep, or exercise. Periodic paralyses pps are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. In hypokalemic familial periodic paralysis, the factors. Mar 27, 2019 the two most common types of periodic paralyses are. The patients paralysis resolved upon repletion of his low potassium and he was. If recognised and treated appropriately, patients recover without any clinical sequellae. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. 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. Jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. 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.
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. The syndrome of hypokalaemic paralysis represents a heterogenous group of disorders characterised clinically by hypokalaemia and acute systemic weakness. Hypokalemic periodic paralysis hypopp is a rare autosomal. The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis. However, you will still need to take your potassium tablets as prescribed by your doctor. Five generations of a family with hypokalemic periodic paralysis hopp were studied. We believe that the case discussed below is the first detailed report of a regional anesthetic successfully performed for a patient with familial hyperkalemic periodic paralysis. Hypokalemic periodic paralysis genetics home reference nih. Of the 120 screened family members, 64 were found to have hopp of. Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood.
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. Segal md phd1, karin jurkatrott md phd2, jacob levitt md3, frank lehmannhorn md phd2 1 simulconsult inc. The heterogeneous group of muscle diseases known as periodic paralyses pp is characterized by episodes of flaccid muscle weakness occurring at irregular intervals. Familial periodic paralysis msd manual professional edition. Review an expanding view for the molecular basis of familial periodic paralysis stephen c. Hypokalemic periodic paralysis at the ambulatory surgery. Hypokalemic periodic paralysis an overview sciencedirect.
Primary or familial periodic paralysis is a group of disorders due to single gene mutation resulting in abnormalities of calcium, sodium, potassium, and chloride channels on muscle cell membrane 9,18. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Waardenburgs syndrome and familial periodic paralysis. Attacks now occur only five or six times yearly and consist of total paralysis for about 30 minutes followed by five or six days of chronic myasthenia. The association of the familial occurrence of hashitoxicosis and periodic paralysis does not appear to have been reported previously. 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 paralysis is a disease characterized by sudden attacks of weakness and paralysis. Primary periodic paralyses include hypokalemic paralysis hypopp. Hyperkalemia familial periodic paralysis adynamia episodica. Familial periodic paralysis hypokalemic periodic paralysis 1 hypopp1 mutation of skeletal muscle ltype calcium channel gene cacn1as 1 hypokalemic periodic paralysis 2 hypopp2 mutation of skeletal muscle sodium channel gene scn4a 1. Familial periodic paralysis definition of familial periodic.
All forms of familial pp show the final mechanistic pathway involving aberrant. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. 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. This 42yearold man had periodic episodes of generalized paralysis since 15 years of age, caused by stress or exercise. Review of the diagnosis and treatment of periodic paralysis. Thank you for your interest in spreading the word about the bmj. Undoubtedly many patients who were thought previously to have classical familial periodic paralysis had, in reality, adynamia episodica hereditaria, or hyperkalemic familial periodic paralysis, the term we prefer to use. A sodium free diet helped, and most severe attacks followed strenuous exercise. Hypokalemic and normokalemic are two kinds of this genetic problem.
Jul, 2017 familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Progressive muscle atrophy with hypokalemic periodic. Familial periodic paralysis there are three types of familial periodic paralysis fpp. Episodes tend to increase in frequency until midadulthood, after which they occur less frequently in many. Review an expanding view for the molecular basis of. Taylor stated that familial periodic paralysis has certain constant and cardinal peculiarities.
Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates. The patients paralysis resolved upon repletion of his. The patients studied were 2 of the 3 cases of familial periodic paralysis which have been diagnosed in the new haven hospital since 1921. The abundant literature concerning familial periodic paralysis brings together a remarkable number of clinical phenomena in addition to experimental and laboratory findings that intrigue both clinician and biochemist. Hypokalemic periodic paralysis an owners manual michael m. Acute hypokalemic periodic paralysis can be prima ry or familial periodic paralysis, and secondary periodic paralysis. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Familial periodic paralysis genetic and rare diseases. Nonperiodic form of hypokalemic paralysis was the most common variant in our study. Considerable data relating mineral metabolism and a variety of endocrinopathies. Most of the conditions are hereditary and are more episodic than periodic. None of these congenital anomalies has been previously documented. Primary or familial periodic paralysis is a group of disorders due to single gene mutation resulting in abnormalities of calcium, sodium, potassium, and chloride. Clinical profile in hypokalemic periodic paralysis cases.
Familial periodic paralysis shows an autosomal dominant inheritance pattern and is characterized by episodes of flaccid weakness or paralysis with preserved ventilation. Hyperkalemic familial periodic paralysis adynamia episodica hereditaria is a hereditary disorder manifested by recurrent paralysis with hyperkalemia, rather than hypokalemia which is seen in classical familial periodic paralysis. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Hypokalemic familial periodic paralysis is a rare channelopathy with muscle weakness and a matching fall in the potassium levels in the blood. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Dietary guidelines for hypokalemic periodic paralysis. They are characterized by episodes in which the affected muscles become. 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. Attacks of periodic weakness have occurred from the age of 2 or 3 years. Rhabdomyolysis following severe hypokalemia caused by familial. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Consequently, we felt that it was desirable to report these four cases.
There are two major forms, hypokalemic and hyperkalemic, each. Clinical profile in hypokalemic periodic paralysis cases electronic. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Between attacks, the affected muscles usually work as normal. Episodes typically involve a temporary inability to move muscles in the arms and legs. 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. Twelve patients were found with this icd9 code, but 2 were excluded as they had familial periodic paralysis and no thyrotoxicosis. Sinai medical center, new york, usa dec 2017 this article focuses on questions that arise about diagnosis and treatment for people with hypokalemic periodic. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Hypokalaemic paralysis is a relatively uncommon but potentially lifethreatening clinical syndrome. These episodes can last from a few minutes to a few days, depending on. Familial periodic paralyses information page national. Periodic paralysis pp is the name for several rare, inherited muscle disorders marked by temporary weakness, especially following rest, sleep, or exercise description.
Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. The first attack usually occurs in childhood or adolescence. 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. Hypokalemic periodic paralysis genetic and rare diseases. Attacks were more frequent in adolescence and early. Familial periodic paralysis is a disease of unknown etiology characterized by recurrent acute attacks of weakness associated with a fall in serum potassium levels. 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. Two of the episodes were observed in our hospital and mild hypokalemia. As there was no family history, the diagnosis was likely a rare case of a sporadic non familial type of periodic paralysis, associated with intermittent hypokalemia and occasional transient increase in aldosterone excretion.
Individuals with hypokalemic fpp have episodic attacks of weakness and flaccid paralysis. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Familial hypokalemic periodic paralysis is characterized by periodic attacks of muscle weakness due to decreases in serum potassium. This form is often associated with a decrease in serum potassium levels. The lady in the present scenario neither gives any such history in the past, nor there are, any other members in the family who suffer from similar condition, thereby familial conditions like, familial hypokalemic periodic paralysis fhpp, thyrotoxic periodic paralysis, anderson tawill syndrome ruled out. Changes to your diet may help reduce the frequency of episodes of paralysis. Paralysis is a symptom of a wide variety of physical and emotional disorders rather than a disease in. Hypokalemic periodic paralysis hypopp or hypokpp is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Familial hypokalaemic periodic paralysis is a rare disease of undetermined cause charac terised by transient attacks of. Full text get a printable copy pdf file of the complete article 333k, or click on a page image below to browse page by page. Laboratory evaluation revealed a markedly low potassium level.
Several reports prior to gamstorps paper contained descriptions of cases with a striking clinical similarity to hyperkalemic. This 45yearold woman had neither periodic paralysis nor epileptic seizures or tremor. The hypokalemic variant is the most common and all three have an autosomal dominant inheritance pattern. A family with 11 affected members in three generations was. Paralysis can affect all major muscles or can affect a single limb, for example after lots of. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. Although familial periodic paralysis syndromes are inherited. Essential tremor, seizures, and periodic paralysis. Primary periodic paralysis modified from jurkatrott and. There are two major forms, hypokalemic and hyperkalemic, each caused by defects in different genes. The patient presented with sudden onset paralysis of his extremities. Hyperkalemic periodic paralysis genetics home reference. Exercise challenge test tests for hyperpp, hypopp, or pam no evidence.
Periodic paralysis disorders are genetic disorders that affect muscle strength. 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. Hypokalaemic paralysis postgraduate medical journal. Pdf paroxysmal muscle weakness the familial periodic. Periodicparalysis differential diagnosis and important. Familial hypokalemic periodic paralysis in pregnancy.
One was excluded because their strength was intact. Periodic paralysis pp is a rare group of clinical syndromes characterized by. Definition periodic paralysis pp is the name for several rare, inherited muscle disorders marked by temporary weakness, especially following rest, sleep, or exercise. Description periodic paralysis disorders are genetic disorders that affect muscle strength.
Pps include hypokalemic paralysis, hyperkalemic paralysis, and andersentawil syndrome. Paralyses, familial periodic definition of paralyses. Familial periodic paralysis pediatrics merck manuals. To date, the diagnosis of familial periodic paralysis has been made at the mayo clinic in only three instances, exclusive of the four cases under consideration. Cannona,b, adepartment of neurology, massachusetts general hospitalwellman 423, 50 blossom street, boston, ma 02114, usa bdepartment of neurobiology, harvard medical school, usa received 20 november 2001. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The patients presentation, hyperthyroidism etiology, precipi. Theassociation with familial periodic paralysis is of particular genetic interest, since the latter is also anautosomaldominantdisease. These attacks are precipitated by exercise followed by rest. Periodic paralysis an overview sciencedirect topics. Apr 30, 2018 for prophylaxis, dichlorphenamide 50100 mg bid may be considered for the management of primary hypokalemic periodic paralysis. Most individuals with primary pp have inherited autosomal dominant disorders. Familial periodic paralysis definition of familial.