A doença de Parkinson (DP) é uma doença degenerativa crónica do sistema nervoso central que afeta principalmente a coordenação motora. Os sintomas vão-se manifestando de forma lenta e gradual ao longo do tempo. Na fase inicial da doença, os sintomas mais óbvios são tremores, rigidez, lentidão de movimentos e dificuldade em caminhar. Podem também ocorrer problemas de raciocínio e comportamentais. Nos estádios avançados da doença é comum a presença de demência. Cerca de 30% das pessoas manifestam depressão e ansiedade.
Introdução
O que você precisa saber de cara
Doença neuromuscular rara caracterizada por episódios de fraqueza muscular flácida, podendo apresentar face triangular, retenção urinária e constipação. Associada a alterações eletrolíticas e cardíacas, como hipofosfatemia transitória e bloqueio atrioventricular.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 53 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 142 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:7590287, PubMed:7696590). The inward rectification is mainly due to the blockage of outward current by inter
Cell membraneCell membrane, sarcolemma, T-tubule
Long QT syndrome 7
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. This potassium channel is control
Membrane
Long QT syndrome 13
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium
Cell membraneEndoplasmic reticulum
Thyrotoxic periodic paralysis 2
A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.
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.
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride an
Postsynaptic cell membraneCell membrane
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes.
Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1
Mitochondrion inner membrane
Neuropathy, ataxia, and retinitis pigmentosa
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside
Mitochondrion membrane
Mitochondrial complex V deficiency, mitochondrial 2
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
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.
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.
Variantes genéticas (ClinVar)
305 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 4,433 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 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
Selecione um estado ou use sua localização para ver resultados.
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
11 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 730
Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.
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.
Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
Reliable pre-implantation sex determination and genetic screening enables informed embryo transfer decisions in equine breeding while avoiding later interventions. We developed a streamlined workflow that couples rapid whole genome amplification (WGA) with a multiplex real-time PCR targeting ETSTY5 as a Y-specific marker and UBC as an autosomal control. On purified equine DNA, sex was correctly assigned down to 10 pg gDNA and to a single fibroblast cell. Direct testing of embryo biopsies without WGA yielded inconsistent results, whereas introducing a short WGA step produced tight allelic-discrimination clusters and 100% diagnostic calls, including in cloned embryos of known sex. The same WGA product supported targeted genotyping for inherited disease screening of hyperkalemic periodic paralysis (HYPP) and hereditary equine regional dermal asthenia (HERDA) alleles. This WGA plus real-time PCR pipeline supports robust and practical embryo sexing and targeted pre-implantation genetic diagnostics within in vitro produced (IVP) equine embryo and embryo transfer workflows.
Publicações recentes
Paralysis to Analysis: Unmasking Thyrotoxic Periodic Paralysis in a Middle-Aged Male Patient With Undiagnosed Graves Disease.
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.
📚 EuropePMC1.853 artigos no totalmostrando 192
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.
CureusSex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
The Journal of reproduction and developmentApproach to the patient with severe hyperthyroidism-related complications.
The Journal of clinical endocrinology and metabolismClinical features and advances in the genetics of periodic paralysis.
PeerJLithium-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 pediatricsThe Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicineUnmasking 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 medicineCase Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Annals of Indian Academy of NeurologyNovel 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.
CureusThyrotoxic Periodic Paralysis (TPP): A Comprehensive Review with Regional Insights from the Middle East.
Cureus[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaPerinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.
The journal of obstetrics and gynaecology researchA 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 : NMDNonthyroidal illness syndrome and diagnostic utility of CSF mNGS: insights from a case series of neurological scrub typhus.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesThyrotoxic Periodic Paralysis in an Asian Male With Graves' Disease.
CureusExploring Etiologies of Hypokalemic Paralysis: A Case Series.
The Journal of the Association of Physicians of IndiaGuillain-Barré Syndrome and Viral Thyroiditis-Coexisting Together or Viral Thyroiditis as a Cause of Guillain-Barré Syndrome: An Unsolved Enigma!
The Journal of the Association of Physicians of IndiaIsolated Periodic-Paralysis-Like Syndrome in a Kinship With a Pathogenic MT-ATP6 Variant: A Case Report.
Muscle & nerveGenetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.
Advances in experimental medicine and biologyHypokalemic Periodic Paralysis: A Case Report.
CureusSudden Tetraplegia from Hypokalaemic Periodic Paralysis Due to Cacna1s Mutation: Should Genetic Testing be Performed More Often?
European journal of case reports in internal medicineUnilateral 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.
CureusMuscle Channelopathies and Rhabdomyolysis.
Continuum (Minneapolis, Minn.)Hyperthyroid 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.
GeneGlucocorticoid-induced Thyrotoxic Periodic Paralysis Following Lumbar Nerve Root Block.
Internal medicine (Tokyo, Japan)Respiratory Failure in Hyperthyroidism: Focus on Thyrotoxic Periodic Paralysis.
CureusClinical and molecular mechanistic insights into the WDR72 mutation.
BMJ case reportsTwenty-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 Paralysis Is Not Always Periodic: A Case Series.
Case reports in medicineHypokalemic 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 researchHyperthyroidism in Disguise: A Case of New-Onset Atrial Fibrillation and Acute Reversible Paralysis.
JCEM case reportsClinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P.
Frontiers in physiologyCOVID-19 infection and intense physical activity in hypokalemic periodic paralysis.
Boletin medico del Hospital Infantil de MexicoRefractory Ventricular Arrhythmias in Thyrotoxic Periodic Paralysis: An Uncommon Presentation of Cardiogenic Shock.
CureusMolecular genetics of skeletal muscle channelopathies.
Journal of human geneticsGraves' disease and hypokalemic periodic paralysis: A case series.
The American journal of medicineSilent Paralysis: Recurrent Thyrotoxic Periodic Paralysis in a Young Hispanic Male With Graves' Disease.
AACE endocrinology and diabetesDiscovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis.
Annals of clinical and translational neurologyHypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Neuromuscular disorders : NMDRebound Hyperkalemia After Potassium Repletion in Thyrotoxic Periodic Paralysis: A Case Report and Review of Management Implications.
CureusAn Atypical Case of Sjögren's Syndrome: A Surprise Diagnosis.
CureusTransient worsening of thyrotoxic myopathy following methimazole and metoprolol initiation in a 12-year-old girl: a case report and literature review.
Journal of pediatric endocrinology & metabolism : JPEMHypokalemic 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 medicineRebound Hyperkalemia in Hypokalemic Thyrotoxic Periodic Paralysis.
The NeurohospitalistUnveiling Thyrotoxic Periodic Paralysis: A Rare Hyperthyroid Complication.
CureusThe association between renin and thyroid-related biomarkers with clinical characteristics and outcomes in hyperthyroid patients.
Science progressExploring self-management of diet and physical activity in CACNA1S-related hypokalemic periodic paralysis: A qualitative interview study.
Journal of neuromuscular diseasesHypokelemic Periodic Paralysis in Pregnancy-A Rare Case Study.
Journal of obstetrics and gynaecology of IndiaComprehensive 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 radiologySemaglutide reverses the chronic myopathy of hyperkalemic periodic paralysis: a case report.
BMC nephrologyAtypical 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 AmericaBroadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.
Annals of Indian Academy of NeurologyA 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 geneticsHow nutrigenomics impacts equine health - A case study of vitamin E.
Journal of equine veterinary scienceCACNA1S 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 reportsNovel mutation in KCNJ2 gene causes long QT interval syndrome type 7 and learning disability: A case report.
MedicineA case of ascending paralysis in pregnancy: Thiamine deficiency mimicking Guillain-Barré syndrome.
Clinical medicine (London, England)Simultaneous 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 physiologyA Rare Case of Thyrotoxic Periodic Paralysis in a Patient With Concomitant Methimazole-Induced Agranulocytosis.
AACE clinical case reportsGenetics of Muscle Disease.
The Veterinary clinics of North America. Equine practiceThyrotoxic periodic Paralysis With hypoxemia: A case report and a comprehensive review.
Radiology case reportsAtypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
European journal of case reports in internal medicinePeriodic paralysis across the life course: age-related phenotype transition and sarcopenia overlap.
Frontiers in neurology"A Paralyzing Snack": An Endocrine Cause of Paralysis.
Acta medica (Hradec Kralove)Anesthesia and Myopathies of Horses.
The Veterinary clinics of North America. Equine practiceMuscle 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 paediatricsAcute Muscle Weakness in Graves' Disease: A Case Report of Hypokalemic Thyrotoxic Periodic Paralysis.
CureusThyrotoxic Periodic Paralysis With Graves' Disease: A Case Report.
CureusThyrotoxic Periodic Paralysis: A Unique Case Highlighting the Diagnostic Challenges and Management.
CureusQuantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.
Neurology. GeneticsBartter Syndrome With Recurrent Hypokalemic Periodic Paralysis: A Case Report.
CureusA pediatric case of Andersen-Tawil syndrome with slowly progressive myopathy.
Pediatrics international : official journal of the Japan Pediatric SocietyHypokalemic 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 neurology[Andersen-Tawil Syndrome, a differential of bidirectional ventricular tachycardia: a case report].
Archivos peruanos de cardiologia y cirugia cardiovascularThyrotoxic periodic paralysis - a retrospective study from Southern India.
European thyroid journalA Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.
The Israel Medical Association journal : IMAJPeriodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
American journal of medical genetics. Part AClinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.
Frontiers in neurologyA 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 nephrologyThyrotoxic periodic paralysis complicated by carbimazole-associated myositis.
BMJ case reportsGenetic background of neonatal hypokalemia.
Pediatric nephrology (Berlin, Germany)A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings.
Pediatric neurologyUnraveling the Clinical Complexity of Thyrotoxic Periodic Paralysis: A Case Report.
CureusThyrotoxic Periodic Paralysis in a Samoan Male With Metabolic Acidosis: A Case Report and Review of the Literature.
CureusPediatric 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 reportsThyrotoxic Periodic Paralysis: A Case Report with Patient Perspective.
Acute medicineCore myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series study.
Clinical case reportsA single-center retrospective study on the clinical features of thyrotoxic periodic paralysis.
PloS oneTorsade de Pointes Caused by a Compound Licorice Tablet.
International heart journalConvergence of Crisis: A Case Report of Diabetic Ketoacidosis Masking an Impending Thyroid Storm and Periodic Paralysis.
Cureus[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 BelgicaThe effect of systemic acetazolamide administration on intraocular pressure in healthy horses-A preliminary study.
Veterinary ophthalmologyThyrotoxic periodic paralysis: a case report and review of relevant pathophysiology.
Emergencias : revista de la Sociedad Espanola de Medicina de EmergenciasEarly-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 medicineHyperandrogenism and Hypokalemic Thyrotoxic Periodic Paralysis in a North American Adolescent Girl.
JCEM case reportsDelayed initiation of disease modifying therapy increases relapse frequency and motor disability in pediatric onset multiple sclerosis.
Multiple sclerosis and related disordersAcquired hyperkalaemia leading to periodic paralysis: an emergency department perspective.
BMJ case reportsAtypical Normokalemic Case of Thyrotoxic Periodic Paralysis in a Pediatric Patient.
CureusHyperkalemic Periodic Paralysis Secondary to End-Stage Renal Disease and Excess Potato Consumption.
CureusPhenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
BiomoleculesCase 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.
CureusThyrotoxic Periodic Paralysis, an Unusual Presentation of Paralysis After Spinal Surgery: A Case Report.
CureusNovel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
HeliyonAllele frequency of muscular genetic disorders in bull-catching (vaquejada) quarter horses.
Journal of equine veterinary scienceTranscriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7.
Journal of translational medicineRecurrent Thyrotoxic Periodic Paralysis As the Sole Clinical Manifestation of Untreated Hyperthyroidism.
CureusCase report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
Frontiers in neurologyA Rare Case of Hypokalemic Periodic Paralysis With Acute Urinary Retention: Diagnosis and Management.
CureusA rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian.
Clinical case reportsPhysiotherapy Strategies in Hypokalemic Periodic Paralysis: A Case Report.
CureusHypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study.
CureusSpecial electromyographic features in a child with paramyotonia congenita: A case report and review of literature.
World journal of clinical casesGestational Transient Thyrotoxicosis Can Lead to Hypokalemic Periodic Paralysis.
Chonnam medical journalArtificial Intelligence Electrocardiography Detecting Thyrotoxic Periodic Paralysis Following a SARS-CoV-2 Infection.
The American journal of medicineCrossover 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 reportsGraves' Disease With Initial Presentation of Thyrotoxic Periodic Paralysis.
CureusUpper Limb Movement Execution Classification using Electroencephalography for Brain Computer Interface.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceA retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Journal of neurologyNewly 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 reportsDiagnostics in skeletal muscle channelopathies.
Expert review of molecular diagnosticsHyperkalemic Periodic Paralysis in Twenty-Two Family Members Over Four Generations: A Rare Case Report.
Annals of Indian Academy of NeurologyA Thyrotoxic Periodic Paralysis Case Study: From Weakness to Wellness.
CureusAn unusual stroke mimic: A case report.
SAGE open medical case reportsThyrotoxic 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)Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
Journal of clinical neuromuscular diseaseAn 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 & nerveHypokalemic Hypophosphatemic Thyrotoxic Periodic Paralysis Associated with Bipolar Disorder Therapy.
CureusThyrotoxic Periodic Paralysis With Hypokalemia: A Case Study.
CureusPotential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.
Cerebellum (London, England)A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy.
Frontiers in neurologyCode Pseudo Stroke - A Case of Hypokalaemic Periodic Paralysis Mimicking Stroke.
European journal of case reports in internal medicineHypokalemic paralysis due to renal tubular acidosis: uncommon initial manifestation of primary Sjögren´s syndrome.
ARP rheumatologyCare Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.
Pediatric neurologyHypokalemic periodic paralysis as the first sign of thyrotoxicosis- a rare case report from Somalia.
Thyroid researchAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Paralisia periódica.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Paralisia periódica
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
- 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.
- Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
- Paralysis to Analysis: Unmasking Thyrotoxic Periodic Paralysis in a Middle-Aged Male Patient With Undiagnosed Graves Disease.
- 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:206976(Orphanet)
- MONDO:0016122(MONDO)
- GARD:20374(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1788314(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
