The trial consists of two 9week studiesone study will enroll persons with hyperkalemic periodic paralysis and the other study will enroll persons with hypokalemic periodic paralysis. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Menstruation, pregnancy, and anesthesia have been reported to exacerbate fhpp. A case of thyrotoxic hypokalemic paralysis europe pmc. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. The present article was aimed to study demographic and clinical pattern, periodicity and precipitating events for hypokalemic paralysis and to assess the. Loss or impairment of motor function in a part due to a lesion of the neural or muscular mechanism. Studies on a patient with hypokalemic familial periodic paralysis albert m. Description periodic paralysis disorders are genetic disorders that affect muscle strength. Twelve patients were found with this icd9 code, but 2 were excluded as they had familial periodic paralysis and no thyrotoxicosis. Adas c, utku u, utku b, adas h 2014 hypokalemic periodic paralysis cases. Periodic paralysis is a condition characterized by episodic weakness of the muscles and may be hypo, normo or hyperkalemic type. Additional tests identified the patient as being thyrotoxic.
Case report the clinical characteristics of cacna1s r528h. Wong p 2003 hypokalemic thyrotoxic periodic paralysis. Evidence ofchanges in plasma naand cl and induction ofparalysis by adrenal glucocorticoids davidh. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. View the article pdf and any associated supplements and figures for a period of 48 hours.
Familial periodic paralysis is a disease of unknown etiology characterized by recurrent acute attacks of weakness associated with a fall in serum potassium levels. 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. Apr 05, 2016 secondary periodic paralysis a demonstrably known causes serum potassium abnormal even in interictal phase 7. Familial periodic paralysis genetic and rare diseases. The periodic paralysis is not associated with myotonia. Although familial periodic paralysis syndromes are inherited.
Conventional classification of periodic paralysis primary or familial periodic paralysis. Prolonged qt interval and ventricular arrhythmias are the most common cardiac manifestations. Disturbances of potassium equilibrium can produce a wide range of disorders including myopathy, marked muscle wasting, diminution of muscle tone, power, and reflexes. This test was previously described in 1992 by kantola and tarssanen in neurology in patients with familial hypokalemic periodic paralysis fhopp. Aan members 800 8791960 or 612 9286000 international nonaan member subscribers 800 6383030 or 301 2232300 option 3.
Thyrotoxic hypokalemic periodic paralysis in an african male. None of these congenital anomalies has been previously documented. Erythrocyte membrane studies in familial hypokalemic. Pathogenic mechanisms, differential diagnosis and treatment principles are discussed. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Thyrotoxic periodic paralysis tpp, a disorder most commonly seen in asian men, is characterized by abrupt onset of hypokalemia and paralysis. Hypokalaemic paralysis postgraduate medical journal. She had the history of polymyositis diagnosis and the use of deltacortril and received intensive care treatment in another. Sansone v, meola g, links tp, panzeri m, rose mr 2008 treatment for periodic paralysis. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. 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. Anesthetic management during parturition has not been previously described. Hypokalaemic paralysis is a relatively uncommon but potentially lifethreatening clinical syndrome. Thyrotoxic periodic paralysis is a rare endocrine disorder seen predominantly in men of asian origin.
Clinical profile in hypokalemic periodic paralysis cases. It is vital for physicians to be able to differentiate tpp from familial hypokalemic periodic paralysis. The patient presented with sudden onset paralysis of his extremities. Definition periodic paralysis pp is the name for several rare, inherited muscle disorders marked by temporary weakness, especially following rest, sleep, or exercise. Hypokalemic periodic paralysis case insight medical. Periodic paralysis is a disease that, though infrequently seen, has been of much interest to the medical profession since it was first described by cavare1 a century ago. Periodic paralysis syndrome hypokalemic, symptoms, types. In this study, we present nine patients with hypokalemic periodic paralysis, in. A study of rbc membrane functions was performed in four patients suffering from familial hypokalemic periodic paralysis who had permanent muscular weakness. Emg and nerve conduction study were done to exclude polyneuropathy. Familial hypokalemic periodic paralysis fhpp is a rare inherited disease characterized by attacks of severe muscle weakness and flaccid muscle paralysis. Hypokalemic periodic paralysis online mendelian inheritance in man. Early hypotheses on the pathogenesis of periodic paralysis included the theory of muscleischemia asthe underlyingpathology westphal, 1885, holtzapple, 1905, schmidt, 1919, mankowsky, 1929. Paralysis is a symptom of a wide variety of physical and emotional disorders rather than a disease in.
Hpp is the most common primary periodic paralysis and it usually resolves completely with k replenishment. Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Hypokalemic periodic paralysis case insight medical publishing. Some metabolic studies of sporadic and familial periodic. 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 with myotonic. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Paralyses, familial periodic definition of paralyses. Thyrotoxic periodic paralysis is a selflimiting disorder that is cured by the treatment of the underlying hyperthyroidism. Hypokalaemia periodic paralysis liam j stapleton, 2018. Adas c, utku u, utku b, adas h 2014 hypokalemic periodic. Hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Fiona norwood, michael rose, in neurology and clinical neuroscience, 2007. A 19yearold white man with familial hypokalemic periodic paralysis developed evidence of cardiac dysfunction during a episode of flaccid paralysis.
A decreased in blood potassium levels during attacks of periodic paralysis was described in 1934 by biemond and daniels, and founded the basis for the first classification of periodic paralysis 2,3. Hypokalemic periodic paralysis genetics home reference nih. 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. The syndrome of hypokalaemic paralysis represents a heterogenous group of disorders characterised clinically by hypokalaemia and acute systemic weakness.
It may occur spontaneously sporadic hypokalemic periodic paralysis, as an autosomal dominant muscle disease familial hypokalemic periodic paralysis, or as a rare manifestation of. I report a case of a 33yearold caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Metabolism of calcium, phosphorus and magnesium in progressive muscular dystrophy, myotonia atrophica and familial periodic paralysis. 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. Periodic paralysis pp is a rare group of clinical syndromes characterized by. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates. This 42yearold man had periodic episodes of generalized paralysis since 15 years of age, caused by stress or exercise. 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. Thank you for your interest in spreading the word about the bmj. Two of the episodes were observed in our hospital and mild hypokalemia. The authors studied 8 patients with familial periodic paralysis on the clinical, hydroelectrolytic, electrophysiologic, histologic and therapeutic points of view.
Familial periodic paralysis definition of familial periodic. Hypokalemic periodic paralysis case journal of reproductive. Hypokalemic paralysis in emergency department a case report. We report an unusual case of acute onset weakness from thyrotoxic periodic paralysis in a young chinese migrant who had a normal serum potassium level at the time of initial presentation, though on subsequent presentation. Dalakos,andherbertfellerman fromthedepartmentofmedicine division ofendocrinology, state university ofnewyork upstatemedicalcenter, syracuse, newyork210 abstract in a 19 yr old male with familial. There are two major forms, hypokalemic and hyperkalemic, each. Full text full text is available as a scanned copy of the original print version. 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. A 39yearold white man was admitted to our hospital for progressive weakness of several.
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. Seattle, washington from the department of physiology and bio physics, department of medicine, division of neurology and department of pathology, univer sity of washington, school of medicine, seattle, washington 98105. Jun 12, 2017 the periodic paralysis association ppa has a find a doctor page where you can view a list of physicians who specialize in periodic paralysis. Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. Patients at the more severe end of the spectrum may have. We briefly report our results using the potassium exercise test in a patient with thyrotoxic periodic paralysis tpp. Acute hypokalemic periodic paralysis can be prima ry or familial periodic paralysis, and secondary periodic paralysis. Journal of contraceptive studies imedpub journals 2016.
Consultant neuropsychiatrist, british military hospital, colombo familial periodic paralysis presents a welldefined clinical picture. Theassociation with familial periodic paralysis is of particular genetic interest, since the latter is also anautosomaldominantdisease. It occurs when there is an incomplete, abrupt transition between wakefulness and rem sleep. Apr 30, 2018 treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. The underlying hyperthyroidism is often subtle causing difficulty in early diagnosis. For example, a large carbohydrate meal results in secretion of insulin into the blood, which results in a drop of the blood potassium level as potassium and glucose enter cells. Full text of hypokalemic periodic paralysis a case report.
If recognised and treated appropriately, patients recover without any clinical sequellae. Factors like highcarbohydrate meal exercise, steroid, and stress can. The mechanisms of periodic paralysis is believed to be an inability of the muscle membrane to propagate an action potential 3. The case is reported of a patient who presented to the accident and emergency department with sudden onset of weakness of his lower limbs. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Clinical and aetiological spectrum of hypokalemic flaccid paralysis. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis. This 45yearold woman had neither periodic paralysis nor epileptic seizures or tremor. Hypokalemic periodic paralysis free download as powerpoint presentation. The patients paralysis resolved upon repletion of his low potassium and he was. Anesthetic management of familial hypokalemic periodic. Familial periodic paralyses information page national. Primary periodic paralyses include hypokalemic paralysis hypopp, hyperkalemic paralysis hyperpp, and andersen.
It was first described by cavare 1853, whose findings have been supplemented by studies of. Although rare, periodic paralysis must differentiated from other causes of weakness and paralysis so that the proper treatment can be initiated. J, elena cheruvil, sheffin thomas, tony abraham pharm. Symptoms mimicking those of hypokalemic periodic paralysis. This is a prospective observational study elucidating the clinical profile of the cases of secondary hypokalaemic periodic paralysis seen in our care over a period of 14 months. Although familial periodic paralysis syndromes are inherited in autosomal. Periodic paralysis may be primary or secondary type.
The commonest of these is hypokalemic periodic paralysis. Periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. These episodes can last from a few minutes to a few days, depending on. Waardenburgs syndrome and familial periodic paralysis. Familial hypokalemic periodic paralysis in pregnancy. A case of periodic hypokalemic paralysis in a patient with.
Periodic paralysis pp is a rare group of clinical syndromes. Hypokalemic and normokalemic are two kinds of this genetic problem. Secondary periodic paralysis a demonstrably known causes serum potassium abnormal even in interictal phase 7. Hypokalemic paralysis is more common than hyperkalemic. Hypokalaemia was identified and treated with resolution of symptoms. Laboratory evaluation revealed a markedly low potassium level. Case report the clinical characteristics of cacna1s r528h mutation in a chinese family with hypokalemic periodic paralysis jiaqi chen, aijie huang, ting lu, yun zhao, min li, rong xiang, min feng, honghong lu department of endocrinology and metabolism, suzhou municipal hospital, the affiliated suzhou hospital of nan. Electrophoretograms of membrane proteins, cell deformability, calciumpromoted. Nov 17, 2014 hypokalemic periodic paralysis is characterized by diffuse muscle weakness associated with hypokalemia due to a transient shift of potassium into cells. The paralytic attack can last from an hour to several days and the weakness may be generalized or localized. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness.
Most cases are sporadic and have no family history of periodic. Pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as. The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis. Get a printable copy pdf file of the complete article 109k, or click on a page image below to browse page by page. Clinical profile in hypokalemic periodic paralysis cases electronic. Participants will be randomly assigned to one of two treatment groups. Hyper and hypokalemic periodic paralysis study full text. Apr 30, 2018 a clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms. In one study, 8% of the general population and 28% of students reported having isolated sleep paralysis. The present article was aimed to study demographic and clinical pattern, periodicity and precipitating events for hypokalemic paralysis and to. A case of familial periodic paralysis europe pmc article.
Familial periodic paralysis was recognized as clinical entity as early as the end of the nineteenth century. Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. The patients paralysis resolved upon repletion of his low potassium. A clinically useful classification of primary periodic paralyses, shown in table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms.
Successful treatment of two cases of familial periodic paralysis with potassium citrate. The effective use of thyroid in periodic paralysis. 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. Such potassium fluctuations occur in everyone, but in people with familial hypokalemic periodic paralysis, these drops in potassium can produce episodes of paralysis.
Familial periodic paralysis pediatrics merck manuals. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. The syndrome of acute andor repeated paresis, however, can be brought on by a variety of factors, which must be distinguished from those in familial periodic paralysis. Cardiac dysfunction in a patient with familial hypokalemic. Studies on a patient with hypokalemic familial periodic paralysis. Hypokalemic periodic paralysis genetic and rare diseases. 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. Only 9 18% cases are hypokalemic periodic paralysis hpp. The list represents suggestions from ppa members or correspondents and does not represent an endorsement of the physicians or institutions appearing in the list by the ppa. The icd9 code for thyrotoxic periodic paralysis 359. Episodes typically involve a temporary inability to move muscles in the arms and legs. 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 presented. 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.681 33 721 1674 196 340 1474 1652 941 933 1601 223 689 1483 1187 1163 94 423 761 745 536 174 779 792 720 1093 820 1115 740 36 829 1583 1231 302 375 1001 1055 1041 248 577 172 1465 1124