A discinesia paroxística (DP) é um grupo heterogêneo raro de distúrbios do movimento que se manifesta como movimentos involuntários anormais que recorrem episodicamente e duram apenas um breve período. A DP inclui discinesia cinesigênica paroxística (PKD), discinesia paroxística não cinesigênica (PNKD), discinesia paroxística induzida por esforço (PED) e uma forma variante de PKD, convulsão infantil e coreoatetose (síndrome ICCA).
Introdução
O que você precisa saber de cara
A discinesia paroxística (DP) é um grupo heterogêneo raro de distúrbios do movimento que se manifesta como movimentos involuntários anormais que recorrem episodicamente e duram apenas um breve período. A DP inclui discinesia cinesigênica paroxística (PKD), discinesia paroxística não cinesigênica (PNKD), discinesia paroxística induzida por esforço (PED) e uma forma variante de PKD, convulsão infantil e coreoatetose (síndrome ICCA).
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
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). 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:8995301). The inward rectification is mainly d
MembraneBasolateral cell membrane
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
Endoplasmic reticulum membraneCell projection, axonCell projection, dendrite
Episodic kinesigenic dyskinesia 3
A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later.
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alte
Cell membraneMembraneCell projection, axonCytoplasmic vesiclePerikaryonEndoplasmic reticulumCell projection, dendriteCell junctionSynapsePresynaptic cell membranePresynapse
Episodic ataxia 1
An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative trans
Cell membraneMelanosomePhotoreceptor inner segment
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid at very low rate, though this reaction is not physiologically relevant in vivo (PubMed:21487022)
Cell membraneMitochondrionCytoplasmGolgi apparatusEndoplasmic reticulum
Paroxysmal non-kinesigenic dyskinesia 1
An autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. The attacks of involuntary movements are brought on by stress, alcohol, fatigue or caffeine, and generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.
As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation
Cell membranePresynaptic cell membraneSynapseCell projection, axonCytoplasmic vesicle, secretory vesicle, synaptic vesicle membranePostsynaptic density membraneCell projection, dendritic spine
Episodic kinesigenic dyskinesia 1
An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
Variantes genéticas (ClinVar)
294 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 20 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 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 — Discinesia paroxística
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
The PRRT2 gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous PRRT2 mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic PRRT2 variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on PRRT2 gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8).
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.
Pathogenic variants within the unique N-terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X-linked dominant epileptic encephalopathy (DEE). The aim was to expand the clinical and molecular spectrum of FGF13A-related disorder. We performed exome or genome sequencing of patients with unexplained nonepileptic paroxysmal dyskinesia (PxD). Four unrelated boys with three novel de novo or inherited pathogenic missense variants in FGF13A were identified. Variants were also located within the inactivation particle, proximal to the DEE variants. Carrier mothers were unaffected, indicating an X-linked recessive inheritance. All patients presented with PxD in infancy, consisting of both hyperkinetic and hypokinetic-hypotonic phases, and a variable neurodevelopmental disorder. The frequency of attacks was high (60-100 per day). Treatment with caffeine with or without methylphenidate partially improved PxD in 2 patients. FGF13A variants cause a partially caffeine-responsive PxD phenotype with variable cognitive impairment, albeit without epilepsy. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.
Mixed movement disorder due to pathogenic variants in the ADCY5 gene (MxMD-ADCY5) is a rare condition characterized predominantly by paroxysmal involuntary choreiform movements involving the limbs, face, and neck, often accompanied by dystonia and myoclonus. Speech disturbances, delayed motor development, cognitive impairment, axial hypotonia, and episodic exacerbations of dyskinesia are also common features. Currently, treatment strategies remain limited; however, several studies indicate a beneficial effect of caffeine in the management of dyskinesia. This clinical report aims to present a case of MxMD-ADCY5 showing a high therapeutic response to caffeine. To our knowledge, this is the first reported Ukrainian patient with this condition demonstrating dramatic improvement in paroxysmal dyskinesia after treatment with high-dose caffeine. In our clinical observation, administration of caffeine at a total daily dose of 600 mg resulted in significant clinical improvement in an adult patient with MxMD-ADCY5 over a follow-up period of at least 6 months. No adverse events or side effects were reported.
Paroxysmal dyskinesia associated with hyperthyroidism in 7 cats: a novel manifestation of a metabolic encephalopathy.
Paroxysmal dyskinesia associated with hyperthyroidism (HT) is a well-described disorder in humans and has not been previously reported in cats. Paroxysmal dyskinesia might develop as a consequence of HT in cats, with improvement or cessation of the episodes once normal thyroid function is restored. Seven client-owned cats. Multicenter retrospective observational study comprising cats with clinical signs consistent with the clinical phenotype of paroxysmal dyskinesia based on video recordings, and a concurrent diagnosis of HT. Follow-up information was obtained by contacting referring veterinarians and owners. Seven cats were included. No signs of neurological disease were observed between the episodes except for plantigradism in one cat. Brain MRI studies were performed in 2 cats, revealing no intracranial abnormalities. In 1 cat, a 2-h video-assisted wireless electroencephalography confirmed the absence of epileptic activity. Clinical signs associated with HT were noted in all but 1 cat. After treatment for HT, complete remission of paroxysmal dyskinesia episodes was achieved in all cases, with euthyroid state confirmed in 6 cats. HT should be considered a differential diagnosis in cats with paroxysmal dyskinesia, even in the absence of other suggestive signs. Similar to the analogous disorder in humans, the prognosis appears excellent once appropriate treatment for HT is initiated.
Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.
Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare genetic hyperkinetic movement disorder caused by pathogenic variants in the ADCY5 gene, characterized by childhood-onset chorea, dystonia, myoclonus, and distinctive paroxysmal exacerbations, often with nocturnal worsening. The disorder exhibits marked phenotypic variability, minimal disease progression, and frequently normal neuroimaging, leading to frequent misdiagnosis as dyskinetic cerebral palsy or epilepsy. We report the case of a 60-year-old woman with childhood-onset generalized dystonia, prominent oromandibular and lingual involvement, asymmetric distal choreoathetosis, and recurrent nocturnal ballistic bouts beginning at age 13. Episodes occurred predominantly during sleep-wake transitions and were exacerbated by stress. Neurological examination and brain magnetic resonance imaging (MRI) were unremarkable. Whole-exome sequencing (WES) identified a heterozygous de novo splice-site mutation in ADCY5 (c.2088+1G>A), classified as pathogenic. Symptomatic treatment with trihexyphenidyl, clonazepam, and quetiapine led to a significant reduction in episode frequency and severity. This case expands the phenotypic spectrum of ADCY5-RMD by demonstrating persistence of sleep-related paroxysmal dyskinesia into late adulthood and highlights the importance of considering ADCY5-RMD in long-standing childhood-onset hyperkinetic movement disorders.
Publicações recentes
Phenotypic characteristics of paroxysmal dyskinesia in 25 cats.
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.
Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.
Paroxysmal dyskinesia associated with hyperthyroidism in 7 cats: a novel manifestation of a metabolic encephalopathy.
Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.
📚 EuropePMC128 artigos no totalmostrando 152
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyMixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.
Case reports in neurological medicineParoxysmal dyskinesia associated with hyperthyroidism in 7 cats: a novel manifestation of a metabolic encephalopathy.
Journal of veterinary internal medicineNocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.
CureusA Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
Journal of child neurologyFeline neurological disease in a veterinary referral hospital in the UK: clinical diagnosis, neuroanatomical localisation and VITAMIN D-based aetiological distribution.
Journal of feline medicine and surgeryGenetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyParoxysmal Dyskinesias in Paediatric Age: A Systematic Review.
Journal of clinical medicineAdult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome.
Parkinsonism & related disordersBK channel activity in skin fibroblasts from patients with neurological disorder.
Channels (Austin, Tex.)Expression of the extracellular matrix component brevican prior and after deep brain stimulation in the dtsz hamster model of dystonia.
Brain research bulletinParoxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.
Movement disorders clinical practiceRare Movement Disorders-An Approach for Clinicians.
International journal of molecular sciencesHigh Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.
Movement disorders clinical practiceIdentification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population.
Acta physiologica (Oxford, England)Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBeyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia.
Annals of medicine and surgery (2012)Positive Effects of Caffeine Therapy in a Girl with PDE2A-Related Paroxysmal Dyskinesia.
Movement disorders clinical practiceAtypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Parkinsonism & related disordersKCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.
Movement disorders clinical practiceUnderstanding paroxysmal dyskinesia in cats.
The Veterinary recordA preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier.
Animal genetics[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].
MedicinaSuspected paroxysmal dyskinesia in four small-breed dogs: Clinical presentation, diagnosis, management and prognosis.
Veterinary medicine and scienceParoxysmal movement disorders.
Handbook of clinical neurologyCanine paroxysmal dyskinesia-a review.
Frontiers in veterinary scienceA new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.
Molecular genetics & genomic medicineIdentification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia.
HeliyonGenetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze.
Parkinsonism & related disordersFocal Head Tremor and ZNF142-Associated Neurodevelopmental Disorder.
Movement disorders clinical practiceExploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
Movement disorders clinical practice[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaDisease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models.
The Journal of general physiologyDystonic head tremor in paroxysmal dyskinesia in 17 dogs (2021-2023).
The Veterinary recordParoxysmal movement disorders: Paroxysmal dyskinesia and episodic ataxia.
Handbook of clinical neurologyScoping Review on ADCY5-Related Movement Disorders.
Movement disorders clinical practiceNon-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.
Movement disorders clinical practiceNew presentation of CLIFAHDD syndrome with a novel variant in NALCN gene: A report of a rare case.
Clinical case reportsA homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clinical geneticsTranslating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.
Advanced genetics (Hoboken, N.J.)Two Cases of TMEM151A-Associated Paroxysmal Dyskinesia in a Single-Center Series of PRRT2-Negative Patients.
Movement disorders clinical practiceEarly Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.
Movement disorders clinical practiceLong-term nutritional management of an obese German Spitz with paroxysmal dyskinesia, calcium oxalate urolithiasis, and suspected pancreatitis-A case report.
Frontiers in veterinary scienceA Musician's Journey with PRRT2 Related Paroxysmal Dyskinesia.
Movement disorders clinical practiceGluten serological testing in various dog breeds with paroxysmal dyskinesia.
Frontiers in veterinary scienceMovement Disorder in Demyelinating Disease: Tracing the Charcot's Foot Print.
Annals of Indian Academy of NeurologyAcetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.
Movement disorders clinical practiceParoxysmal Dyskinesia in a case of Hypocalcemia with Hypothyroidism and Pseudohypoparathyroidism.
Annals of Indian Academy of NeurologyMovement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
European journal of neurologyFever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
Movement disorders clinical practiceAlternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
MedicineBK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.
eLifeParoxysmal dyskinesia and electrodermal volatility: The role of mindfulness, self-compassion and psychophysiological interventions.
Applied neuropsychology. AdultEfficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Movement disorders : official journal of the Movement Disorder SocietyNeuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.
Proceedings of the National Academy of Sciences of the United States of AmericaStudy of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
NeurologiaParoxysmal Kinesigenic Dyskinesia Masquerading as Dissociative Disorder: A Case Report on Pseudo-Dissociation.
Neurology IndiaStriatal Indirect Pathway Dysfunction Underlies Motor Deficits in a Mouse Model of Paroxysmal Dyskinesia.
The Journal of neuroscience : the official journal of the Society for NeuroscienceIdentification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Acta physiologica (Oxford, England)Clinical characterisation of a novel paroxysmal dyskinesia in Welsh terrier dogs.
Veterinary journal (London, England : 1997)Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells.
Movement disorders clinical practiceMolecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations.
Frontiers in pharmacologyCerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia.
NeurologyPRRT2- Associated Paroxysmal Kinesigenic Dyskinesia Only Evident with High-Speed Cricket Bowling.
Movement disorders clinical practiceTMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Movement disorders : official journal of the Movement Disorder SocietyA Cerebellar Wave for Paroxysmal Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyParoxysmal dyskinesia in sphynx cats.
The Veterinary recordCerebellar spreading depolarization mediates paroxysmal movement disorder.
Cell reportsPhenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.
Journal of feline medicine and surgeryGenetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Frontiers in neurologyPediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
Frontiers in neurologyGenetic updates on paroxysmal dyskinesias.
Journal of neural transmission (Vienna, Austria : 1996)Paroxysmal Genetic Movement Disorders and Epilepsy.
Frontiers in neurologyInternational veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.
Journal of veterinary internal medicineClinical findings, neurological manifestations and survival of dogs with insulinoma: 116 cases (2009-2020).
The Journal of small animal practiceA knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
Human geneticsLevetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.
Journal of veterinary internal medicinePhenotypic characterization of PIGN-associated paroxysmal dyskinesia in Soft-coated wheaten terriers and preliminary response to acetazolamide therapy.
Veterinary journal (London, England : 1997)Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.
Translational neurodegenerationA Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.
Frontiers in neurologyMusculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
BiomedicinesParoxysmal dyskinesia: When a PRRT2 variant hides a curable cause.
Revue neurologiqueImpaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyBiallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.
Brain & developmentClinical features of muscle cramp in 14 dogs.
Journal of veterinary internal medicineStatus Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.
Tremor and other hyperkinetic movements (New York, N.Y.)Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.
Movement disorders clinical practiceCurrent challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders.
Expert review of neurotherapeuticsADCY5-Related Dyskinesia in a Child with Sleep Related Paroxysmal Dyskinesia.
Indian journal of pediatricsLongstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome.
Movement disorders clinical practiceParoxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Movement disorders : official journal of the Movement Disorder SocietyParoxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.
Molecular genetics & genomic medicineThe role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.
Journal of the neurological sciencesMitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).
GenesClinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBiallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
European journal of human genetics : EJHGPhenotypic characterization of paroxysmal dyskinesia in Maltese dogs.
Journal of veterinary internal medicineThe Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Movement disorders : official journal of the Movement Disorder SocietyManagement of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
European journal of neurologyClinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
International journal of molecular sciencesTreatment of Paroxysmal Dyskinesia.
Neurologic clinicsPhenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
EpilepsiaGeneralized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant.
Tremor and other hyperkinetic movements (New York, N.Y.)Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Neuroscience lettersGenetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.
Journal of neurologySleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineDe novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Human molecular geneticsSecondary Paroxysmal Dyskinesia as a Presenting Symptom of Multiple Sclerosis.
Movement disorders clinical practiceScreening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Journal of neurologySeizures and movement disorders: phenomenology, diagnostic challenges and therapeutic approaches.
Journal of neurology, neurosurgery, and psychiatryAn Adult with Episodic Abnormal Limb Posturing.
Movement disorders clinical practiceParoxysmal Dyskinesias in a PRRT2 Mutation Carrier.
Tremor and other hyperkinetic movements (New York, N.Y.)Proportion and spectrum of movement disorders in adolescent and adult patients of autoimmune encephalitis of non-neoplastic aetiology.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaParoxysmal Dyskinesia in Children: from Genes to the Clinic.
Journal of clinical neurology (Seoul, Korea)[Paroxysmal dyskinesias - disorder categories, their causes and treatment].
Wiadomosci lekarskie (Warsaw, Poland : 1960)Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis.
Journal of neurology[Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome].
Nederlands tijdschrift voor geneeskundePearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy.
NeurologyBenign paroxysmal torticollis of infancy does not lead to neurological sequelae.
Developmental medicine and child neurologyMisdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report.
Neuropsychiatric disease and treatmentDe Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Journal of child neurologyParoxysmal dyskinesia in the bichon frise.
The Veterinary recordExpanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.
Balkan medical journalCharacterization of Paroxysmal Gluten-Sensitive Dyskinesia in Border Terriers Using Serological Markers.
Journal of veterinary internal medicineProline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Movement disorders : official journal of the Movement Disorder SocietyPRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Cell reportsDe novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
European journal of human genetics : EJHGA novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.
Cold Spring Harbor molecular case studies[Parasomnia and paroxysmal dyskinesia].
Der NervenarztParoxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.
Journal of veterinary internal medicineSecondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients.
Multiple sclerosis (Houndmills, Basingstoke, England)Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients".
Multiple sclerosis (Houndmills, Basingstoke, England)Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
Epilepsy & behavior case reportsNovel mutation in a patient with late onset GLUT1 deficiency syndrome.
Brain & developmentA homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
NeurogeneticsParoxysmal dyskinesia on waking: two case reports.
Sleep medicineHomozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Human geneticsParoxysmal movement disorders: An update.
Revue neurologiqueNatural history of canine paroxysmal movement disorders in Labrador retrievers and Jack Russell terriers.
Veterinary journal (London, England : 1997)Paroxysmal Dyskinesia in Norwich Terrier Dogs.
Movement disorders clinical practiceParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Neurology. GeneticsThe Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases.
PediatricsSpinal-generated movement disorders: a clinical review.
Journal of clinical movement disordersBenign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Annals of neurologyDystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.
Frontiers in veterinary scienceAcetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog.
The veterinary quarterlyThe clinical and genetic heterogeneity of paroxysmal dyskinesias.
Brain : a journal of neurologyDe novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Movement disorders : official journal of the Movement Disorder SocietyPyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyTreatment of paroxysmal dyskinesias in children.
Current treatment options in neurologyProtein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
Proceedings of the National Academy of Sciences of the United States of AmericaA rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia.
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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.
- A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
- Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41814582mais citado
- Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.
- Paroxysmal dyskinesia associated with hyperthyroidism in 7 cats: a novel manifestation of a metabolic encephalopathy.
- Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.
- Phenotypic characteristics of paroxysmal dyskinesia in 25 cats.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1431(Orphanet)
- MONDO:0015427(MONDO)
- GARD:18721(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7139584(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