A paralisia periódica hipocalêmica (hipoPP) é caracterizada por episódios de paralisia muscular que duram de algumas a 24-48 horas e estão associados à queda nos níveis de potássio no sangue.
Introdução
O que você precisa saber de cara
A paralisia periódica hipocalêmica (hipoPP) é caracterizada por episódios de paralisia muscular que duram de algumas a 24-48 horas e estão associados à queda nos níveis de potássio no sangue.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group
Cell membrane, sarcolemma, T-tubule
Periodic paralysis hypokalemic 1
An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10646604, PubMed:11207363, PubMed:12954870). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:12954870). Associates with KCNC4/Kv3.4 alpha subunit
Cell membraneCytoplasmPerikaryonCell projection, dendriteMembrane raft
Brugada syndrome 6
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membrane
Paramyotonia congenita
An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
3,705 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,980 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Paralisia periódica hipocalêmica
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Hypokalemic periodic paralysis (HypoPP) is a muscle disease caused by abnormal ion channels and is characterized by recurrent skeletal muscle relaxation paralysis and hypokalemia. There are obvious triggers before disease onset, such as cold, excessive exercise, excessive consumption of sugary and high-energy foods, and overeating. The aim of this study was to elucidate the pathogenic mechanism of novel mutations in the voltage-dependent L-type calcium channel subunit alpha-1 S (CACNA1S) gene associated with HypoPP. Method: Whole-exome sequencing and American College of Medical Genetics and Genomics (ACMG) compliance analysis were performed, supplemented by serum potassium and blood biochemistry tests for bioinformatics analysis. We report a 13-year-old adolescent male patient with hypokalemic periodic paralysis, who complained of limb muscle weakness accompanied by pain for 10 h. Whole-exome sequencing revealed a mutation in the CACNA1S gene (NM_000069.3: exon27: c.3491 A>C [p. Glu1164Ala]), which was classified as an uncertain mutation. The clinical presentation and protein structure prediction of the gene mutation confirmed its pathogenic role and mechanism. The mutation caused a conformational change in the calcium ion channel. This study revealed a new mutation site in the HypoPP gene and proposed the possibility of a new pathogenesis. Moreover, obesity and low magnesium are two factors that induce HypoPP, which may increase the risk of disease.
The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
Hypokalemic periodic paralysis (HPP) presenting as acute quadriparesis is a neuromuscular emergency. While its etiology is described in general wards, its severe "critical care phenotype" in the intensive care unit (ICU) remains poorly characterized. We aimed to define this phenotype by analyzing the clinical profile, etiological spectrum, and predictors of life-threatening severity. A retrospective study was conducted of 12 patients (nine male, three female; median age: 31.5 years) admitted to a tertiary ICU (2015-2021) with acute quadriparesis and hypokalemia (median potassium: 1.75 mmol/L). We analyzed management and outcomes and compared patients requiring mechanical ventilation (MV+) with those who did not (MV-) using distribution-appropriate statistical methods to identify factors associated with respiratory failure. All patients presented with acute flaccid quadriparesis and areflexia. Five (41.7%) required invasive mechanical ventilation, defining a severe "critical care phenotype." A secondary cause was identified in eight patients (66.7%), including thyrotoxicosis (n=2), distal renal tubular acidosis (n=2), primary hyperaldosteronism, sepsis, dengue fever, and gastroenteritis. Critically, the need for mechanical ventilation was not associated with the degree of hypokalemia (MV+ 1.7 mmol/L vs. MV- 1.7 mmol/L, p=0.87) or other baseline characteristics. With potassium supplementation and targeted therapy, 11 patients (91.7%) achieved complete neurological recovery; one death occurred in a patient with sepsis. HPP in the ICU represents a distinct critical care phenotype with a high risk of respiratory failure. As the requirement for mechanical ventilation was not predicted by admission potassium levels, vigilant monitoring for respiratory muscle fatigue is warranted in all cases. Favorable outcomes are achievable with prompt correction and treatment of the underlying cause, reinforcing that HPP is a reversible ICU emergency.
Hypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
Hypokalemic periodic paralysis (HPP) is an uncommon but reversible cause of acute flaccid paralysis. It can clinically resemble neurological emergencies such as Guillain-Barré syndrome (GBS), leading to potential misdiagnosis and delays in appropriate treatment. We report a 30-year-old man who presented with sudden-onset quadriparesis following an acute febrile illness with gastrointestinal symptoms characterized by fever, myalgia, arthralgia, and vomiting. Initial neurological assessment demonstrated proximal and distal weakness without sensory involvement. Laboratory tests revealed severe hypokalemia (2.2 mmol/L), mild hypomagnesemia, hypophosphatemia, and markedly elevated CRP and procalcitonin. An MRI of the brain and spine was unremarkable. Although GBS was considered, rapid improvement in muscle strength following intravenous (IV) and oral potassium supplementation supported the diagnosis of hypokalemic periodic paralysis. The patient made a full recovery with the correction of electrolytes. This case emphasizes the importance of early electrolyte evaluation in acute flaccid paralysis and highlights the need to distinguish hypokalemic paralysis from GBS, as timely potassium replacement leads to rapid and complete recovery.
Unmasking malignancy-thyrotoxic hypokalemic periodic paralysis and papillary thyroid carcinoma in a young male with Graves' disease: a case report.
Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare complication of hyperthyroidism, most often associated with Graves' disease. It is characterized by transient muscle weakness and hypokalemia due to an intracellular potassium shift. Although Graves' disease is also associated with an increased risk of thyroid nodularity and, in some cases, malignancy, the co-occurrence of THPP and papillary thyroid carcinoma (PTC) remains exceedingly rare. To our knowledge, this is only the second reported case documenting the simultaneous presence of all three conditions: THPP, Graves' disease, and PTC. A 26-year-old male with a known history of Graves' disease presented with acute flaccid paralysis due to THPP. This episode led to thyroid imaging, which revealed thyroid nodules and cervical lymphadenopathy. Fine-needle aspiration (FNA) was suspicious for malignancy. The patient underwent total thyroidectomy with central and left neck dissections, with final pathology confirming multifocal PTC, including a widely invasive follicular variant, and regional lymph node metastases. This case illustrates the rare triad of THPP, Graves' disease, and PTC. In this patient, an episode of THPP served as the clinical trigger that led to further thyroid evaluation and ultimately the diagnosis of an aggressive and multifocal thyroid malignancy. It emphasizes the need for thorough thyroid evaluation in patients with Graves' disease who present with THPP, as an underlying malignancy may be present. Early imaging, cytologic assessment, and surgical consultation should be considered.
Steroid-induced Hypokalemic Periodic Paralysis.
Hypokalemic periodic paralysis (HypoPP) occurs in calcium and sodium ion channelopathy, which is a rare presentation following certain triggers. This typically hereditary condition leads to episodic acute muscle weakness associated with hypokalemia, which can later present as permanent weakness. This article presents the case of a 37-year-old male who developed bilateral lower limb weakness associated with severe hypokalemia following intramuscular administration of 8 mg dexamethasone. HypoPP, though not common, should be evaluated in patients following treatment with glucocorticoids. These patients present with typical symptoms that can be managed accordingly. RésuméLa paralysie périodique hypokaliémique (PPH) survient dans le cadre d’une canalopathie calcique et sodique, une manifestation rare déclenchée par certains facteurs. Cette affection, généralement héréditaire, entraîne une faiblesse musculaire aiguë épisodique associée à une hypokaliémie, pouvant évoluer vers une faiblesse permanente. Cet article présente le cas d’un homme de 37 ans ayant développé une faiblesse bilatérale des membres inférieurs associée à une hypokaliémie sévère après l’administration intramusculaire de 8 mg de dexaméthasone. Bien que rare, la PPH doit être recherchée chez les patients traités par glucocorticoïdes. Ces patients présentent des symptômes typiques qui peuvent être pris en charge en conséquence.
Publicações recentes
Permanent weakness and myopathy in hypokalemic periodic paralysis.
Lifestyle and dietary measures in Periodic Paralyses.
Hypokalemic periodic paralysis associated with atypical CACNA1S in pregnancy: New challenge for a rare syndrome.
Unmasking Hypokalemic Periodic Paralysis: The Rare Role of Levothyroxine in a Pakistani Woman.
The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
📚 EuropePMC530 artigos no totalmostrando 196
The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
CureusHypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
CureusLithium-induced hypokalemic periodic paralysis: A rare and life-threatening complication in bipolar disorder management.
Indian journal of psychiatryCase Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.
Frontiers in pediatricsUnmasking malignancy-thyrotoxic hypokalemic periodic paralysis and papillary thyroid carcinoma in a young male with Graves' disease: a case report.
AME case reportsSteroid-induced Hypokalemic Periodic Paralysis.
Annals of African medicineNovel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Journal of molecular neuroscience : MNSilent electrolyte imbalance unmasked by paralysis: a case of hypokalemia in a middle-aged woman.
Clinical biochemistryHypokalemic periodic paralysis type 1 with respiratory involvement: A case report and critical review of the diagnostic and therapeutic approach.
Medicina clinicaCoexistence of McArdle disease and hypokalemic periodic paralysis: A case report.
Medicina clinicaEfficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis.
Muscle & nerveHypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.
Case reports in geneticsEfficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis.
Muscle & nerveA Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia.
Cureus[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaA Trajectory of Thyroid Function: From Thyrotoxic Paralysis to Post-ablative Hypothyroidism.
CureusThyrotoxic periodic paralysis: diagnostic and management considerations.
BMJ case reportsThyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.
Endocrinology and metabolism (Seoul, Korea)Safety and efficacy of dichlorphenamide in patients with periodic paralysis: A systematic review and meta-analysis.
Neuromuscular disorders : NMDExploring Etiologies of Hypokalemic Paralysis: A Case Series.
The Journal of the Association of Physicians of IndiaGenetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.
Advances in experimental medicine and biologyHypokalemic Periodic Paralysis: A Case Report.
CureusUnilateral Upper Extremity Paralysis Secondary to Hypokalemia and Fasting: A Case Report.
Clinical practice and cases in emergency medicineSevere Hypokalemic Paralysis Unmasking Renal Tubular Acidosis in a Patient With Sjögren's Syndrome.
CureusHyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report.
Clinical case reportsGenetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
GeneTwenty-year trend of thyrotoxicosis and thyrotoxic periodic paralysis: a population-based cohort study.
European thyroid journalRedefining periodic paralysis with CACNA1S mutation in a Spanish cohort.
NeurologiaHypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report.
Clinical medicine insights. Case reportsHypokalemic Periodic Paralysis Can Be Attributed to Exogenous Hyperthyroidism Only After Exclusion of All Primary and Secondary Causes.
The American journal of medicineGeneration of three iPSC lines from patients with CACNA1S related congenital myopathy.
Stem cell researchCOVID-19 infection and intense physical activity in hypokalemic periodic paralysis.
Boletin medico del Hospital Infantil de MexicoGraves' disease and hypokalemic periodic paralysis: A case series.
The American journal of medicineHypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Neuromuscular disorders : NMDAn Atypical Case of Sjögren's Syndrome: A Surprise Diagnosis.
CureusHypokalemic Periodic Paralysis with Renal Tubular Acidosis in a Patient with Autoimmune Disorder.
The Journal of the Association of Physicians of IndiaAnesthetic Considerations for Patients With Hypokalemic Periodic Paralysis Undergoing Ambulatory Surgery: A Case Report.
A&A practiceRefractory ventricular fibrillation from thyrotoxic hypokalemic periodic paralysis.
The American journal of emergency medicineUnveiling Thyrotoxic Periodic Paralysis: A Rare Hyperthyroid Complication.
CureusExploring self-management of diet and physical activity in CACNA1S-related hypokalemic periodic paralysis: A qualitative interview study.
Journal of neuromuscular diseasesComprehensive analysis of acute flaccid paralysis with and without myelitis in Taiwanese children.
Italian journal of pediatricsRecognizing a Rare Presentation: Hypokalemic Periodic Paralysis Secondary to Amphetamine Use.
Nephrology (Carlton, Vic.)When Potassium Takes a Break: A Case Series of 3 Cases on Hypokalemic Periodic Paralysis.
Clinical case reportsFeasibility of 7 T 39 K/ 23 Na Magnetic Resonance Imaging for assessing muscular ion balance in hypokalemic periodic paralysis.
Investigative radiologyAtypical Electrophysiological Pattern in Hypokalemic Periodic Paralysis With CACNA1S Mutation: A Case Report.
CureusQuetiapine-induced hypokalemic periodic paralysis in a pregnant woman: a case report.
Korean journal of family medicinePotassium-sensitive loss of muscle force in the setting of reduced inward rectifier K+ current: Implications for Andersen-Tawil syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaA Rare Presentation of Sjögren's Syndrome With Hypokalemic Periodic Paralysis Treated Based on Renal Biopsy Findings.
CureusSTIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.
Journal of medical geneticsCACNA1S Channelopathy - A Novel Missense Variant Causing Hypokalemic Periodic Paralysis.
Indian journal of pediatrics[Thyrotoxic hypokalemic periodic paralysis in a black African man in Abidjan (Côte d'Ivoire)].
Medecine tropicale et sante internationaleInsulin-induced severe thyrotoxic periodic paralysis: A case report.
World journal of clinical casesUnraveling an Uncommon Encounter: Hypokalemic Periodic Paralysis with Brugada Phenocopy Amidst Hypokalemia.
European journal of case reports in internal medicineHypokalemic Periodic Paralysis Induced by Factitious Hyperthyroidism for Weight Reduction.
The American journal of medicineCACNA1S-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia.
Therapeutic advances in neurological disordersHypokalemic periodic paralysis, a rare yet critical condition: A case report.
Medicine internationalGitelman syndrome presenting with lower limb paralysis: a case report.
Journal of medical case reportsSimultaneous Cases of Familial Hypokalemic Periodic Paralysis Induced by Illicit Injection of Betamethasone.
The Journal of emergency medicine[Hypokalemia: Not Just Tubulopathies].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaMechanisms underlying the distinct K+ dependencies of periodic paralysis.
The Journal of general physiology"A Paralyzing Snack": An Endocrine Cause of Paralysis.
Acta medica (Hradec Kralove)Muscle Contractility in Hypokalemic Periodic Paralysis.
Muscle & nerveThyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus.
Hormone research in paediatricsThyrotoxic Periodic Paralysis With Graves' Disease: A Case Report.
CureusQuantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.
Neurology. GeneticsBartter Syndrome With Recurrent Hypokalemic Periodic Paralysis: A Case Report.
CureusHypokalemic periodic paralysis presenting as cardiac arrest.
BMJ case reportsA Case Report on Hypokalemic Periodic Paralysis.
CureusThyrotoxic Periodic Paralysis: A Rare Cause of Quadriparesis in a Young and Seemingly Healthy Patient.
Medicina (Kaunas, Lithuania)Periodic Paralysis: A Case Series with a Literature Review.
Case reports in neurologyA Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.
The Israel Medical Association journal : IMAJA novel case of Vibrio bacteremia in an immune-competent patient.
Indian journal of medical microbiologyFamilial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.
BMC nephrologyGenetic background of neonatal hypokalemia.
Pediatric nephrology (Berlin, Germany)Pediatric neuromuscular channelopathies.
Handbook of clinical neurologyCoincident Thyrotoxic Hypokalemic Periodic Paralysis and Cardiomyopathy.
Journal of investigative medicine high impact case reportsPrimary Sjogren's syndrome presenting as hypokalaemic periodic paralysis and acute pancreatitis.
BMJ case reportsA single-center retrospective study on the clinical features of thyrotoxic periodic paralysis.
PloS one[A case report of a MODY 10 family presenting as hypokalemic periodic paralysis].
Zhonghua nei ke za zhiAnaesthetic management of a parturient with hypokalaemic periodic paralysis for caesarean section: A case report and review of the literature.
Anaesthesia and intensive careQuality of life in hypokalemic periodic paralysis - a survey.
Neuromuscular disorders : NMDCase report: thyrotoxic periodic paralysis, an unusual cause of hypokalemia.
Acta clinica BelgicaEarly-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
Journal of neuromuscular diseasesDiagnosis, management and outcomes of primary hypokalemic periodic paralysis during pregnancy.
Obstetric medicineCase 13-2024: A 27-Year-Old Man with Leg Weakness.
The New England journal of medicineGenetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Orphanet journal of rare diseasesHypokalemic Periodic Paralysis: A Rare Case of a Descending Flaccid Paralysis.
CureusA Rare Case of Hypokalemic Periodic Paralysis With Acute Urinary Retention: Diagnosis and Management.
CureusPhysiotherapy Strategies in Hypokalemic Periodic Paralysis: A Case Report.
CureusHypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study.
CureusGestational Transient Thyrotoxicosis Can Lead to Hypokalemic Periodic Paralysis.
Chonnam medical journalCrossover randomized controlled trial of bumetanide to rescue an attack of exercise induced hand weakness in hypokalaemic periodic paralysis.
Neuromuscular disorders : NMDIntravenous methylprednisolone-induced hypokalaemic periodic paralysis in a thyrotoxic patient: a case report and literature review.
Orbit (Amsterdam, Netherlands)Thyrotoxic periodic paralysis presenting with quadriparesis and hyperreflexia.
BMJ case reportsNewly Diagnosed Hypokalemic Periodic Paralysis Triggered by COVID-19.
CureusHypokalemic periodic paralysis in a teenage boy after an intense period of exercise: A rare case report.
Clinical case reportsA Thyrotoxic Periodic Paralysis Case Study: From Weakness to Wellness.
CureusThyrotoxic Periodic Paralysis as an Ongoing Diagnostic Challenge: A Case Report and Literature Review.
CureusPrevalence and risk factors of low vitamin D levels in children and adolescents with familial hypokalemic periodic paralysis.
European journal of pediatricsCase report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.
Frontiers in neurologyA novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
BMC pediatricsHypokalemic periodic paralysis: a 3-year follow-up study.
Journal of neurologyKidney manifestations of pediatric Sjögren's syndrome.
Pediatric nephrology (Berlin, Germany)An Instance of Hypokalemic Periodic Paralysis in Adolescent Brothers: A Case Report.
CureusClinical features and recovery pattern of secondary hypokalaemic paralysis.
Journal of neurologyMuscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Muscle & nervePotential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.
Cerebellum (London, England)Hypokalemic paralysis due to renal tubular acidosis: uncommon initial manifestation of primary Sjögren´s syndrome.
ARP rheumatologyHypokalemic periodic paralysis as the first sign of thyrotoxicosis- a rare case report from Somalia.
Thyroid researchPanic Attack, Severe Hypophosphatemia and Rhabdomyolysis in the Setting of a Motor Functional Neurological Disorder.
Brain sciencesHow is Guillain-Barre syndrome associated with COVID-19 infection differentiated from hypokalemic periodic paralysis? a case report.
Annals of medicine and surgery (2012)A Case of Sudden-Onset Flaccid Paralysis In a Previously Healthy Person.
CureusAn Interesting Case of Weakness and Atrial Tachycardia in the Emergency Department: Thinking Beyond Hearts and Minds.
CureusOptical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Disease models & mechanismsThyrotoxic periodic paralysis: a rare cause of periodic paralysis - a case report.
Annals of medicine and surgery (2012)Hypokalemic periodic paralysis presenting as asymmetric focal flaccid paralysis: A case report and literature review.
HeliyonThyrotoxic hypokalemic periodic paralysis and COVID-19 infection.
Journal of family medicine and primary careSteroid-induced hypokalemic periodic paralysis: a case report and literature review.
BMC nephrologySinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report.
European review for medical and pharmacological sciencesA Case of Thyrotoxic Periodic Paralysis: "I Can't Move!".
CureusPrevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscular disorders : NMDThyrotoxic periodic paralysis associated with lactic metabolic acidosis: Case report of an African man and review of literature.
Annales d'endocrinologieRecurrent hypokalemic paralysis in hypothyroidism.
The American journal of the medical sciencesCase report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis.
Frontiers in neurologyRetigabine suppresses loss of force in mouse models of hypokalaemic periodic paralysis.
Brain : a journal of neurologyThyrotoxic Periodic Paralysis: The Peril of Potassium Replacement.
CureusPathophysiologic approach in genetic hypokalemia: An update.
Annales d'endocrinologieSubclinical hyperthyroidism presenting with hypokalemic periodic paralysis in the emergency department.
Oxford medical case reportsAtypical presentation of hypokalemic periodic paralysis: A case report.
Muscle & nerveA Successful Obstetric Outcome in a Woman With Familial Hypokalemic Periodic Paralysis: Challenges in Management.
CureusCardiac arrhythmias in primary hypokalemic periodic paralysis: Case report and literature review.
HeartRhythm case reportsArterial blood gas analysis aids early differential diagnosis and treatment of primary and secondary hypokalaemic periodic paralysis.
JPMA. The Journal of the Pakistan Medical AssociationSecondary hypokalemic periodic paralysis in Crohn disease: Two case reports.
European journal of neurologyHypokalemic Periodic Paralysis Secondary to Medullary Sponge Kidney Complicated With Renal Tubular Acidosis.
CureusHypokalemic Periodic Paralysis Exacerbated by Carbohydrate Load: A Case Report.
CureusNovel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
World journal of clinical casesThyrotoxic periodic paralysis in a patient with Graves' disease: A case report.
Annals of medicine and surgery (2012)Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Muscle & nerveLate-Onset Hypokalemic Periodic Paralysis in an Adult Female With Type 2 Renal Tubular Acidosis: A Case Report.
CureusCOVID-19 Infection-Related Thyrotoxic Hypokalemic Periodic Paralysis.
Case reports in endocrinologyAcute flaccid paralysis in Indonesian adult due to suspected familial hypokalemia paralysis: A rare case.
Annals of medicine and surgery (2012)A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Italian journal of pediatricsLidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target.
Psychopharmacology bulletinVoltage-dependent Ca2+ release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.
American journal of physiology. Cell physiologyChildbirth with epidural analgesia in a pregnant woman with hypokalemic periodic paralysis.
Revista espanola de anestesiologia y reanimacionCase report: Hyperthyroid hypokalemic periodic paralysis.
Annals of medicine and surgery (2012)Hypokalemic Periodic Paralysis: An Atypical Presentation of Non-autoimmune Hypothyroidism With Distal Renal Tubular Acidosis.
CureusRenal tubular acidosis and nephrogenic diabetes insipidus caused by Sjögren's syndrome with hypokalemic periodic paralysis as the first symptom: A case report.
Revue neurologiqueStroke-mimicking unilateral hypokalemic paralysis and literature review.
The American journal of emergency medicineShort-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.
Cureus[Muscle weakness in the extremities in a man with Graves' disease].
Ugeskrift for laegerHypokalemic Periodic Paralysis in Pregnancy: A Case Report.
Nigerian medical journal : journal of the Nigeria Medical AssociationAtypical Fracture of Femur in Association with Familial Hypokalemic Periodic Paralysis: A Case Report.
Journal of orthopaedic case reportsExcitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.
Neuromuscular disorders : NMDWhen cardiology meets endocrinology: sustained atrial flutter associated with thyrotoxic periodic paralysis.
Oxford medical case reportsHypokalemic periodic paralysis and renal tubular acidosis in a patient with hypothyroid and autoimmune disease.
Annals of medicine and surgery (2012)Electrocardiographic Manifestation in Thyrotoxic Periodic Paralysis.
CureusThyrotoxic periodic paralysis (TPP): assessment in the emergency department.
BMJ case reportsDevelopment of high-affinity nanobodies specific for NaV1.4 and NaV1.5 voltage-gated sodium channel isoforms.
The Journal of biological chemistryThe role of nephrologists in management of hypokalemic periodic paralysis: a case report.
Journal of medical case reportsRefractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise.
BMJ case reportsGlucocorticoid-Induced Hypokalemic Periodic Paralysis after Short-Term Use of Tenofovir with Hypophosphatemia: A Case Report.
Medicina (Kaunas, Lithuania)Novel CACNA1S mutation in hypokalaemic periodic paralysis.
BMJ case reportsThyrotoxic periodic paralysis presenting as a broad complex tachycardia.
British journal of hospital medicine (London, England : 2005)Thyrotoxic periodic paralysis in two sexagenarian men: A case report.
MedicineHyperemesis Gravidarum Presenting as Severe Hypokalemic Periodic Paralysis and Type II Respiratory Failure: A Different Form of Thyroid Storm?
CureusThe long exercise test as a functional marker of periodic paralysis.
Muscle & nerveA case of multifocal papillary carcinoma and thyrotoxicosis: Hypokalemic periodic paralysis.
JAAPA : official journal of the American Academy of Physician AssistantsVacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report.
CureusCase Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.
Frontiers in geneticsDistal renal tubular acidosis and hypokalaemic periodic paralysis during pregnancy.
Journal of nephrologyOsteoporosis Complicating Renal Tubular Acidosis in Association With Sjogren's Syndrome.
CureusMutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
NeurogeneticsGenetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil.
Endocrine, metabolic & immune disorders drug targetsHyperemesis Gravidarum With Paraparesis and Tetany.
CureusGating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
The Journal of general physiologyConfirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.
Electrolyte & blood pressure : E & BPReversible Severe Rhabdomyolysis Associated with Thyrotoxic Hypokalemic Periodic Paralysis.
Case reports in neurologyHypokalemic Periodic Paralysis Precipitated by Thyrotoxicosis and Renal Tubular Acidosis.
Case reports in endocrinologyA Case of Hypokalemic Periodic Paralysis in a Young Athlete.
CureusThyrotoxic Periodic Paralysis in a Young Hispanic Male With Newly Diagnosed Grave's Disease.
CureusHypokalaemic periodic paralysis secondary to subclinical hyperthyroidism: an uncommon cause of acute muscle paralysis.
BMJ case reportsAutophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
Acta neuropathologica communicationsPeripheral nerve dysfunction in a patient with thyrotoxic periodic paralysis: Evidence from an axonal prolonged exercise test.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyThyrotoxic Hypokalemic Periodic Paralysis: A Success Story of a Diagnostic Challenge.
CureusClinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Neuromuscular disorders : NMDField Diagnosis and Treatment of Hypokalemic Periodic Paralysis by a Helicopter Emergency Medical Services Team.
Air medical journalThyrotoxic Periodic Paralysis with Thyroid Storm as the First Presentation of Graves' disease; a Case Report.
Archives of academic emergency medicineA 29-year-old Bodybuilder with Liothyronine-induced Thyrotoxic Hypokalaemic Periodic Paralysis.
European journal of case reports in internal medicineParoxysmal narrow complex tachycardia secondary to hypokalaemic periodic paralysis.
British journal of hospital medicine (London, England : 2005)Hypokalemic Periodic Paralysis Masquerading as a Compressive Neuraxial Lesion Following Lumbar Epidural Placement in a Parturient: A Case Report.
A&A practice[Thyrotropin-secreting pituitary adenomas presenting as hypokalemic periodic paralysis and abnormal elevation of androgen: a case report].
Zhonghua nei ke za zhiExercise test for patients with new-onset paroxysmal kinesigenic dyskinesia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis.
Journal of neuromuscular diseasesTerahertz Wave Enhances Permeability of the Voltage-Gated Calcium Channel.
Journal of the American Chemical SocietyAnaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report.
BMC anesthesiologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
- The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
- Hypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
- Unmasking malignancy-thyrotoxic hypokalemic periodic paralysis and papillary thyroid carcinoma in a young male with Graves' disease: a case report.
- Steroid-induced Hypokalemic Periodic Paralysis.
- Permanent weakness and myopathy in hypokalemic periodic paralysis.
- Lifestyle and dietary measures in Periodic Paralyses.
- Hypokalemic periodic paralysis associated with atypical CACNA1S in pregnancy: New challenge for a rare syndrome.
- Unmasking Hypokalemic Periodic Paralysis: The Rare Role of Levothyroxine in a Pakistani Woman.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:681(Orphanet)
- MONDO:0008223(MONDO)
- GARD:6729(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q622828(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
