Forma de discinesia paroxística, caracterizada por ataques indolores de distonia das extremidades desencadeados por atividades físicas prolongadas.
Introdução
O que você precisa saber de cara
Forma de discinesia paroxística, caracterizada por ataques indolores de distonia das extremidades desencadeados por atividades físicas prolongadas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
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.
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)
1,071 variantes patogênicas registradas no 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 — Discinesia paroxística induzida por esforço
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Canine paroxysmal dyskinesia-a review.
Paroxysmal dyskinesias (PDs) are a group of involuntary, hyperkinetic movement disorders that recur episodically and may last seconds to hours. An important feature of PD is that there is no loss of consciousness during the episode. Using a clinical classification, three main types of PDs have been distinguished in canine PD: (1) paroxysmal kinesigenic dyskinesia (PKD) that commences after (sudden) movements, (2) paroxysmal non-kinesigenic dyskinesia (PNKD) not associated with exercise and can occur at rest, and (3) paroxysmal exertion-induced dyskinesia (PED) associated with fatigue. Canine PDs are diagnosed based on the clinical presentation, history, and phenomenology. For the latter, a video recording of the paroxysmal event is extremely useful. An etiological classification of canine PDs includes genetic (proven and suspected), reactive (drug-induced, toxic, metabolic, and dietary), structural (neoplasia, inflammatory, and other structural causes), and unknown causes. In this review, an overview of all reported canine PDs is provided with emphasis on phenotype, genotype, and, where possible, pathophysiology and treatment for each reported canine PD.
Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.
A 5-and-a-half-year old, 9-kg, spayed, female Welsh Terrier presented with a 12 month history of paroxysmal exertion-induced dyskinesia (PED) characterized by recurrent episodes of involuntary hyperkinetic movements, abnormal muscle tone, and contractions triggered by exercise. A single episode occurred within 2 hours after exercise, lasted from 7 to 10 minutes, and resolved without treatment. The owner sought treatment for the dog when the episodes began to last longer (20-30 minutes), and occurred as long as 2.5 to 8 hours after exercise. Diazepam administered intranasally at the start of an episode promptly alleviated the symptoms. Maintenance therapy with levetiracetam proved effective, such that the dog was gradually returned to exercise. However, attempts to wean the dog off the drug resulted in reoccurrence. Although the pathophysiology of PED is not fully understood, the clinical presentation and the positive response to antiepileptic therapy highlight the overlap between disease pathways in epilepsy and PED in dogs.
A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
The glucose transporter type 1 (Glut1) syndromes.
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia. Recently, milder variants have also been described. The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown. A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect. Despite the rarity of these diseases, the Glut1 syndromes are of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms especially if it is started as early as possible. The present article summarizes the clinical features of Glut1 syndromes and discusses the underlying genetic mutations, including the available data on functional tests as well as the genotype-phenotype correlations. This article is part of the Special Issue "Individualized Epilepsy Management: Medicines, Surgery and Beyond".
Classification of involuntary movements in dogs: Paroxysmal dyskinesias.
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies. In humans, three main groups of PDs are distinguished, based on precipitating events rather than phenomenology: (1) paroxysmal kinesigenic dyskinesia (PKD); (2) paroxysmal nonkinesigenic dyskinesia (PNKD); and (3) paroxysmal exertion-induced dyskinesia (PED). In recent years, there has been an expansion of the spectrum of manifestations of PD due to the identification of genes associated with PD in humans (PRRT1, MR-1, SLC2A1 and KCNMA1) and dogs (BCAN and PIGN). The precise pathophysiological mechanism underlying the clinical manifestations of these reported mutations remains to be elucidated. Progress is also being made in the field of immunology, and links to gluten hypersensitivity in Border terriers with so-called canine epileptoid cramping syndrome (CECS) have been reported. This review aims to synthesise a classification scheme for veterinary PDs by reviewing human systems and applying them to veterinary examples. However, it is anticipated that genetic advancement will greatly aid in future stratification and therapy for PDs in dogs. Therefore, classification systems should be viewed as works in progress that should be modified as necessary.
Publicações recentes
Canine paroxysmal dyskinesia-a review.
Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.
A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
The glucose transporter type 1 (Glut1) syndromes.
Classification of involuntary movements in dogs: Paroxysmal dyskinesias.
📚 EuropePMC2 artigos no totalmostrando 9
Canine paroxysmal dyskinesia-a review.
Frontiers in veterinary scienceLevetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.
Journal of veterinary internal medicineA novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
Journal of the neurological sciencesThe glucose transporter type 1 (Glut1) syndromes.
Epilepsy & behavior : E&BClassification of involuntary movements in dogs: Paroxysmal dyskinesias.
Veterinary journal (London, England : 1997)Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.
Chinese medical journalDo Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
Epilepsy researchTreatment of paroxysmal dyskinesias in children.
Current treatment options in neurologySporadic and familial glut1ds Italian patients: A wide clinical variability.
SeizureAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Discinesia paroxística induzida por esforço.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Canine paroxysmal dyskinesia-a review.
- Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.
- A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
- The glucose transporter type 1 (Glut1) syndromes.
- Classification of involuntary movements in dogs: Paroxysmal dyskinesias.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98811(Orphanet)
- OMIM OMIM:612126(OMIM)
- MONDO:0012805(MONDO)
- GARD:10541(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7139585(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
