A enxaqueca hemiplégica (HM) é uma variedade rara de enxaqueca com aura caracterizada pela presença de fraqueza motora durante a aura. A enxaqueca hemiplégica tem duas formas principais, dependendo da história familiar: pacientes com pelo menos um parente de primeiro ou segundo grau que apresenta aura incluindo fraqueza motora têm enxaqueca hemiplégica familiar (FHM); pacientes sem esse histórico familiar apresentam enxaqueca hemiplégica esporádica (SHM).
Introdução
O que você precisa saber de cara
A enxaqueca hemiplégica (HM) é uma variedade rara de enxaqueca com aura caracterizada pela presença de fraqueza motora durante a aura. A enxaqueca hemiplégica tem duas formas principais, dependendo da história familiar: pacientes com pelo menos um parente de primeiro ou segundo grau que apresenta aura incluindo fraqueza motora têm enxaqueca hemiplégica familiar (FHM); pacientes sem esse histórico familiar apresentam enxaqueca hemiplégica esporádica (SHM).
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
+ 37 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA
Cell membrane
Spinocerebellar ataxia 6
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
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.
Pore-forming subunit of Nav1.1, 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
Generalized epilepsy with febrile seizures plus 2
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients
MembraneCell membrane
Migraine, familial hemiplegic, 2
A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
5,004 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Enxaqueca hemiplégica familiar ou esporádica
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
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Molecular biology and evolutionAnesthetics as emerging therapeutics for post-traumatic stress disorder (PTSD): bridging bench and bedside.
Molecular psychiatryExome sequencing identifies known and candidate genes in hearing impairment in Cameroon.
Communications medicineIdentification of cellular ion channels that facilitate Hazara nairovirus infection enables selection of clinically approved compounds with anti-nairoviral properties.
Scientific reportsDiscovery of key surface electromyography features during walking for discerning high and low muscle mass using machine learning analysis.
Scientific reportsSpirohydantoin derivatives exert dopamine D2-like receptor-independent cytotoxicity in glioblastoma cells with possible involvement of calpain inhibition.
Scientific reportsThe evolutionary history of chelicerate metallothioneins reveals de novo emergence and metal-binding specialization across the subphylum.
Scientific reportsp63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.
Cell death discovery"Oh, who's the mum?": a thematic analysis of neonatal experiences of lesbian and queer+ parents.
Journal of reproductive and infant psychologyEpigenetic silencing L3MBTL4 sensitizes esophageal cancer to DNA-PKcs inhibitor.
Cancer biology & therapyMalic enzyme 2 suppresses PINK1-Parkin-mediated mitophagy by stabilizing ATAD3A via competitive interaction with TRIM25.
Cell death & disease[Caring for a Patient With Rare Urachal Carcinoma and Facilitating Family Medical Decision-Making: A Case Report].
Hu li za zhi The journal of nursing[Death Literacy: A Concept Analysis].
Hu li za zhi The journal of nursing[Application of Evidence-Based Healthcare in Clinical Translation: An Interdisciplinary Collaboration Experience].
Hu li za zhi The journal of nursingAssociations of war-related exposures and early life adversity with late-life cognition.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationIn Utero Selection Echoes Across a Lifetime: Evidence From Historical Utah Populations.
American journal of human biology : the official journal of the Human Biology CouncilDyslipidemia and therapies after heart transplantation: Current evidence and future directions.
Journal of clinical lipidologyWhat We Need to Know About Cancer Immunotherapy: A Qualitative Study of Patient, Family and Healthcare Professional Preferences for Written, Visual and Animated Information.
Seminars in oncology nursingSex-based differences in post-injury behavioral health readmissions among adolescents hospitalized for firearm injuries.
American journal of surgeryGermline and somatic genetic drivers of adrenocortical tumours.
Best practice & research. Clinical endocrinology & metabolismImpacts of pseudoleadership on learning in medical school.
Journal of the National Medical AssociationBetacellulin, a member of the EGF family, ameliorates atopic dermatitis-like symptoms via EGFR-JNK/ERK-mediated activation of autophagy.
Allergology international : official journal of the Japanese Society of AllergologyReplating induces mTOR-dependent rescue of protein synthesis in Charcot-Marie-Tooth diseased neurons.
eNeuroRenegotiating Autonomy in Early-Stage Dementia: Stigma, Disclosure, and Identity.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric SocietyTools to engage patients and family members in diagnostic safety: we see the trees, but what about the forest?
BMJ quality & safety[Omics analysis of the regulatory role of APOBEC in the immune microenvironment of head and neck squamous cell carcinoma with different HPV status].
Zhonghua zhong liu za zhi [Chinese journal of oncology][Genitourinary Oncology Committee of Chinese Anti-Cancer Association (CACA-GO) guideline for prostate cancer for patients (2025 edition)].
Zhonghua zhong liu za zhi [Chinese journal of oncology][Mediating effect of social support and family function on mental health of women infected with HIV].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi[Distribution characteristics of depression symptoms and influencing factors in perimenopausal women].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhiMental health status and associated factors among rural adult women: findings of a community-based cross-sectional study in Bangladesh.
BMJ openUS Presidential Party switches are mirrored in global maternal mortality.
BMJ global healthDo Vitreous Floaters Predict Retinal Detachment? Retrospective Cohort Study in Primary Care.
Annals of family medicineDad Days: The Joys and Challenges of Extended Partial Parental Leave.
Annals of family medicineListen to the Patient-She is Telling You the Diagnosis.
Annals of family medicineEffect of an Advanced Community Paramedic Program to Shorten or Prevent Hospitalizations: A Pragmatic, Point-of-Care, Randomized Clinical Trial.
Annals of family medicineLoneliness in Primary Care Patients-From Understanding the Risk to Actionable Clinical Priority.
Annals of family medicineA Team-Based Approach to Fair and Patient-Centered Dismissals in Family Medicine.
Annals of family medicineDiagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.
Annals of family medicineContinuity of Primary Care in Community Health Centers.
Annals of family medicineAnnals Journal Club: EHR-Integrated Social Clinical Decision Support in Community-Based Primary Care.
Annals of family medicineTwelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.
Jornal de pediatriaTime to wake up to the potential benefits of targeting sleep in osteoarthritis management.
Osteoarthritis and cartilageDevelopment of a baseline battery to optimize depression treatment assignment in primary care: Balancing breadth and brevity.
Journal of affective disordersLife-course dynamics of parental occupational status and subjective socioeconomic status: Associations with adolescent depressive symptoms.
Journal of affective disordersChild Physical Abuse During the COVID-19 Pandemic Across Levels of Community Advantage.
Academic pediatricsGenome-wide identification of O-methyltransferase genes in Stephania yunnanensis and their roles in benzylisoquinoline alkaloid biosynthesis.
International journal of biological macromoleculesGenome-wide identification of APX gene family in peach and functional characterization of PpAPX1 in salt tolerance.
Plant science : an international journal of experimental plant biologyNew Burmese amber fossils reveal ancient forms of scale and wing pattern of the family Mogoplistidae Costa, 1855 (Orthoptera, Grylloidea).
Proceedings. Biological sciencesApproaches to Identifying Social Needs: The SECURE RCT.
PediatricsImproving Social Risk Factors Screening and Resource Referrals in Hospitalized Pediatric Patients.
Hospital pediatricsStructure/function relationships of mitochondrial protein carrier (SLC25A20) for carnitine/acylcarnitine: A review.
Biochimica et biophysica acta. BiomembranesAirplane wastewater as a gateway for pathogen surveillance wastewater surveillance in airplane.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesTranscriptome analysis of molting variation in dominant trimolter silkworms, Bombyx mori.
Gene[Women in Gastroenterology - Current Status from a German Survey: Why Waiting Is Not an Option].
Zeitschrift fur GastroenterologieProton beam therapy for oropharyngeal cancer (TORPEdO): a phase 3, randomised controlled trial.
Lancet (London, England)Endotracheal surfactant for infants with life-threatening bronchiolitis (BESS): a randomised, blinded, sham-controlled, phase 2 trial.
The Lancet. Respiratory medicineStructural Determinants for the Monomeric and Phospholipid-Transport P4B-ATPase via comprehensive in silico analysis of P4-ATPase structures.
Biochemistry and cell biology = Biochimie et biologie cellulaireThe Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.
American journal of human geneticsReturn of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.
American journal of human geneticsHuman pluripotent stem cell-derived atrioventricular node-like pacemaker cells exhibit biological conduction bridge properties.
Cell stem cellTexas student pharmacists' approaches to community pharmacy drug diversion: A mixed-methods study using criminal justice models.
Currents in pharmacy teaching & learningFrom scarcity to abundance: Adaptive strategies in adenosine triphosphate-binding cassette transporter function.
Current opinion in structural biologyDiagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A.
Pediatric neurologyBPGM as an intrinsic brake to constrain metastasis through phospho-epigenetic-mediated carnitine biosynthesis suppression.
Neoplasia (New York, N.Y.)PavWRKY30 mediates light-induced anthocyanin biosynthesis to regulate fruit coloration and quality in sweet cherry (Prunus avium L.).
Plant physiology and biochemistry : PPBPost-traumatic growth among young and middle-aged family caregivers of patients with advanced cancer in China: A theory-guided thematic analysis using the ABC-X model.
European journal of oncology nursing : the official journal of European Oncology Nursing SocietyAI chatbots for patient education in localized prostate cancer radiotherapy: A comparative quality and readability analysis.
Patient education and counselingEpilepsy severity, parental knowledge, and health-related quality of life in children with epilepsy and their parents.
SeizureLiver and Kidney volume Reduction May Underlie Metabolic Adaptation After Metabolic Bariatric Surgery: A sub-study of the "POWER" Randomized clinical trial.
Clinical nutrition (Edinburgh, Scotland)Personal household air pollution exposure and SARS-CoV-2 antibody responses among women and infants: an analysis within the HAPIN trial.
Environment internationalAn efficient wavelet-based physics-informed neural network for multiscale problems.
Neural networks : the official journal of the International Neural Network SocietyThe differences between pain, fatigue, physical fitness, functional status, and family functioning pre- to post- coronary artery bypass grafting among Palestinians.
Acta psychologicaFamily environment profiles and mental health characteristics among Chinese middle school students: A latent profile analysis.
Acta psychologicaRisk factors for post-COVID-19 condition: A case-control study in municipalities of Paraíba and Rio de Janeiro, Brazil.
The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases"A positive experience over a negative one": Stress, coping, and the experiences of adult siblings of intellectually and/or developmentally disabled individuals.
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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.
- Proceedings from Nourish Now: A science dialogue on improving adolescent health through nutrition.
- Disrupted intrathalamic and thalamocortical structural covariance networks in posttraumatic stress disorder.
- Caregiver and healthcare professional perspectives on drivers of routine immunisation uptake in East New Britain, Papua New Guinea: a qualitative study.
- "We've managed to find our own path of how we do it": exploring parental perceptions of using age-inappropriate formulations at home-a qualitative study.
- Neuropsychological aspects of impulse control disorders in Parkinson's disease.
- Identification of case-specific copy number variants reveals novel genetic insights into familial hemiplegic migraine pathogenesis.
- SCN2A variants are associated with familial and sporadic hemiplegic migraine.
- Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.
- A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
- Retrospective analysis of the tolerability and effectiveness of rimegepant for the acute treatment of migraine in adolescents.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:569(Orphanet)
- MONDO:0018925(MONDO)
- GARD:10768(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q30587719(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