Raras
Buscar doenças, sintomas, genes...
Síndrome de distonia - afonia
ORPHA:412217CID-10 · G24.8PCDT · SUSDOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O transtorno de conversão (TC) era um transtorno psiquiátrico anteriormente diagnosticado, caracterizado por experiências sensoriais anormais e problemas de movimento durante períodos de elevado estresse psicológico. Indivíduos diagnosticados com TC apresentavam sintomas neurológicos altamente angustiantes, como dormência, cegueira, paralisia ou convulsões, nenhum dos quais era consistente com uma causa orgânica bem estabelecida e podia ser rastreado até um gatilho psicológico. O TC não é mais um diagnóstico na CID-11 da OMS ou no DSM-5 da APA e foi substituído pelo transtorno neurológico funcional (TNF), um diagnóstico semelhante que notavelmente removeu a exigência da presença de um estressor psicológico.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
32
pacientes catalogados
Início
Adolescent
+ adult, childhood, infancy
🏥
SUS: Cobertura parcialScore: 45%
PCDT disponívelCID-10: G24.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🧠
Neurológico
8 sintomas
💪
Músculos
4 sintomas
📏
Crescimento
1 sintomas
🫘
Rins
1 sintomas
🫃
Digestivo
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Mastigação prejudicada
Muito frequente (99-80%)
90%prev.
Fraqueza dos músculos da língua
Muito frequente (99-80%)
90%prev.
Disartria
Muito frequente (99-80%)
90%prev.
Distonia generalizada
Muito frequente (99-80%)
90%prev.
Distúrbio da marcha
Muito frequente (99-80%)
90%prev.
Disfagia
Muito frequente (99-80%)
24sintomas
Muito frequente (6)
Frequente (12)
Ocasional (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Mastigação prejudicadaImpaired mastication
Muito frequente (99-80%)90%
Fraqueza dos músculos da línguaTongue muscle weakness
Muito frequente (99-80%)90%
DisartriaDysarthria
Muito frequente (99-80%)90%
Distonia generalizadaGeneralized dystonia
Muito frequente (99-80%)90%
Distúrbio da marchaGait disturbance
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026199 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de distonia - afonia

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.

Journal of Korean medical science2026 Mar 23

**Importante:** O artigo fornecido não aborda a síndrome de distonia-afonia, mas sim a experiência da Coreia do Sul com a COVID-19 pediátrica. Para pacientes (e seus pais) e médicos, o estudo revela que, apesar de muitos casos em crianças durante a onda Ômicron na Coreia, desfechos graves foram raros, e o sistema de saúde se adaptou rapidamente com isolamento domiciliar para casos leves e permissão de acompanhamento de cuidadores em hospitais pediátricos. Além disso, foram implementadas vigilância dedicada para a síndrome inflamatória multissistêmica pediátrica (SIM-P), programas de vacinação por faixa etária e estratégias de comunicação de risco, sublinhando a importância de respostas pandêmicas específicas e centradas nas crianças para futuras "Doenças-X".

🇧🇷 traduzido
#2

Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.

Journal of Korean medical science2026 Mar 23

A pandemia de COVID-19 exacerbou a ameaça da resistência antimicrobiana (AMR), pois no início houve um uso generalizado e frequentemente desnecessário de antibióticos, incluindo azitromicina, apesar das baixas taxas de coinfecção bacteriana em muitos casos. Para pacientes e médicos, é fundamental que futuras abordagens para a COVID-19 integrem estratégias de gestão antimicrobiana (AMS) direcionadas—como o uso de testes rápidos para distinguir infecções virais de bacterianas—e reconheçam o papel da vacinação na redução da gravidade da doença e, consequentemente, da necessidade de antibióticos.

🇧🇷 traduzido
#3

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Nature communications2026 Mar 23

Este estudo genético sobre a Síndrome de Alport revelou que variantes genéticas podem ser identificadas em mais de 90% dos pacientes, sendo que quase metade delas são novas. O mais importante para pacientes e médicos é que técnicas de sequenciamento avançadas foram capazes de detectar mutações que exames genéticos padrão não haviam encontrado, incluindo variantes não-codificantes e estruturais complexas, oferecendo assim um diagnóstico para indivíduos que antes não tinham uma explicação genética para sua doença.

🇧🇷 traduzido
#4

Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.

Journal of pediatric gastroenterology and nutrition2026 Mar 23

Este estudo tranquiliza ao mostrar que o uso de antibióticos na primeira semana de vida não está associado a um risco aumentado de distúrbios gastrointestinais funcionais (DGIFs) em crianças de 9-12 anos. A cólica infantil também não demonstrou ligação significativa com esses distúrbios mais tarde. No entanto, o estudo revelou que crianças com alergias alimentares apresentaram uma maior probabilidade de desenvolver distúrbios de dor abdominal funcional (DDAFs).

🇧🇷 traduzido
#5

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

Este estudo sobre a deficiência de tirosina hidroxilase (DTH), que causa distonia e parkinsonismo infantil devido à insuficiência de dopamina, revela que a doença não resulta da morte de neurônios. Em vez disso, a pesquisa indica que a redução da enzima no cérebro ocorre por um transporte defeituoso dentro dos neurônios, impedindo-a de chegar aos locais necessários, o que perturba circuitos cerebrais importantes, mas também ativa mecanismos compensatórios sem degeneração neuronal. Para pacientes e médicos, isso sugere que os neurônios afetados permanecem intactos, abrindo caminhos para tratamentos que visem melhorar o transporte da enzima ou modular a plasticidade cerebral.

🇧🇷 traduzido

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Frontiers in cardiovascular medicine
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A cohort study in Southern Xinjiang, China, 2018-2023 on the association of metabolic syndrome components and their interactions with cardiovascular disease risk.

Frontiers in cardiovascular medicine
2026

Expert consensus on acupuncture for diabetic foot.

American journal of clinical and experimental immunology
2026

Training and Integration of Eat, Sleep, Console Model for Infants and Families at an Urban Academic Health Center.

MedEdPORTAL : the journal of teaching and learning resources
2026

Upadacitinib for the Treatment of Systemic Immune Co-Morbidity in One Case: Alopecia Areata, Vitiligo, Ankylosing Spondylitis, and Allergic Rhinitis-Asthma - Multifaceted Control.

Clinical, cosmetic and investigational dermatology
2026

Incomplete Ascher's Syndrome Misdiagnosed as Eczema: A Case Report.

Clinical, cosmetic and investigational dermatology
2026

Unilateral orbital surgical emphysema following laparoscopic hiatal hernia repair and Nissen fundoplication: a case report.

Frontiers in surgery
2026

Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

Frontiers in surgery
2026

Cellular signatures of immune dysregulation in inborn errors of immunity: development of a quantitative immune balance score.

Frontiers in immunology
2026

Genetic determinants of arterial thrombosis in primary antiphospholipid syndrome: a systematic review.

Frontiers in immunology
2026

The transcription factor ZNF683 marks an exhaustion-like GZMB+CD8+ T cell in sepsis.

Frontiers in immunology
2026

Case Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.

Frontiers in immunology
2026

Lactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.

Frontiers in immunology
2026

Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.

Frontiers in immunology
2026

Real-world safety profile of T-cell engagers: evidence from multi-database analysis with CAR-T comparisons.

Frontiers in immunology
2026

Spatial transcriptomic profiling identifies lacrimal-gland-epithelial cell-driven mechanisms underlying autoimmunity in Sjögren's disease.

Frontiers in immunology
2026

RNA sequencing-derived gene co-expression and drug-gene interaction analysis reveal STAT1 as a potential therapeutic target in thrombotic antiphospholipid syndrome.

Frontiers in immunology
2026

Cell-type specificity of Tim-3 in respiratory diseases: from mechanisms to clinical translation.

Frontiers in immunology
2026

Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.

Cureus
2026

Development of Carbon Dioxide Embolism During Partial Amniotic Carbon Dioxide Insufflation for Fetoscopic Laser Photocoagulation: A Case Report.

Cureus
2026

Pertussis-SARS-CoV-2 Co-infection in Infants at Mohammed VI University Hospital, Marrakech, Morocco.

Cureus
2026

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
2026

Chemotherapy and the Skin: Understanding Dermatologic Side Effects.

Cureus
2026

Ogilvie Syndrome: A Therapeutic Challenge.

Cureus
2026

Atypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.

Cureus
2026

Hypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.

Cureus
2026

Varicella-Zoster Virus Infection in an Immunocompromised Patient With Seizure-Like Activity and Septic Shock: A Case Report.

Cureus
2026

Surgical Risk Following Carpal Tunnel Release in Non-cirrhotic Non-alcoholic Fatty Liver Disease Versus Non-alcoholic Cirrhosis: A Propensity-Matched Analysis.

Cureus
2026

Extracapillary Proliferation Superimposed on Primary Membranous Glomerulonephritis: A Case Report.

Cureus
2026

Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.

Cureus
2026

Spatial and temporal dispersion of ventricular repolarization in pediatric patients with congenital long QT syndrome.

HeartRhythm case reports
2026

Unique repolarization response after spontaneous nonsustained ventricular tachycardia.

HeartRhythm case reports
2026

Clinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.

Advanced biomedical research
2026

Sustained Lung Inflation in Preterm Infants with Signs of Respiratory Distress: A Randomized Controlled Trial.

Advanced biomedical research
2026

Efficacy of Shenqi Eleven-Flavor Granules combined with electrothermal warm acupuncture in patients with "firm but not lasting" erectile dysfunction characterized by spleen-kidney deficiency: a single-center retrospective analysis.

American journal of translational research
2026

Independent predictors of long-term pulmonary function recovery in patients with acute respiratory distress syndrome: a meta-analysis.

American journal of translational research
2026

Trousseau's syndrome with cerebral infarction as the first manifestation.

American journal of translational research
2026

A gradient boosting machine model for predicting prognosis in patients with acute respiratory distress syndrome.

American journal of translational research
2026

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology
2026

Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.

Annals of gastroenterology
2026

BDNF genetic variants modulate the impact of childhood trauma on symptom dimensions in first-episode schizophrenia.

Frontiers in psychiatry
2026

Lifestyle and Complementary Approaches to Polycystic Ovary Syndrome During Perimenopause and Menopause A Scoping Review.

American journal of lifestyle medicine
2026

Synergistic effects of combined breathing training and aerobic exercise on cardiopulmonary function in chronic heart failure: a systematic review and meta-analysis.

PeerJ
2026

Restless legs syndrome and sleep quality in children with migraine and tension-type headache.

PeerJ
2026

Iliofemoral Venous Occlusion Due to Previous Intravenous Drug Abuse Crossed by Sharp Recanalization Technique With Endovascular Stenting: A Case Report.

Journal of the Society for Cardiovascular Angiography &amp; Interventions
2026

Lipid Goal Achievement With Statins Among Statin-Naïve Indian Patients Undergoing Percutaneous Coronary Intervention.

Journal of the Society for Cardiovascular Angiography &amp; Interventions
2026

Late reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.

Orthopedic reviews
2026

Bouveret's syndrome complicated by iatrogenic esophageal perforation after endoscopic gallstone retrieval: a case report.

Journal of surgical case reports
2026

Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.

American journal of cancer research
2026

Ovarian Sertoli-Leydig cell tumors with somatic DICER1 mutations: a clinicopathologic study of 15 cases.

American journal of cancer research
2026

Brugada Syndrome Unmasked by Fever: A Rare Cause of ST-Segment Elevation.

Journal of acute medicine
2026

Pneumomediastinum and Subcutaneous Emphysema as Initial Presentations of Pneumocystis Jirovecii Pneumonia in a Newly Diagnosed HIV-Infected Patient: A Case Report.

Journal of acute medicine
2026

Clinical Characteristics and Factors Associated With Critical Illness and Mortality in Patients Hospitalized With COVID-19: A Retrospective Cohort Study in Taiwan.

Journal of acute medicine
2026

Diagnosis of Polycystic Ovary Syndrome With Predictive Modeling of Select Clinical Features.

O&amp;G open
2026

Physiologic Markers of Mortality in Acute Valve Syndrome: An Ischemic Physiology Score Stratifies Patient Risk.

Structural heart : the journal of the Heart Team
2026

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Clinical ophthalmology (Auckland, N.Z.)
2026

Lower fat-free mass is independently linked to restless legs syndrome in men: a cross-sectional PSG-BIA study.

Frontiers in neurology
2026

Gallbladder mucinous cystic neoplasm: Diagnostic challenges and multimodality imaging correlation.

Radiology case reports
2026

Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

Radiology case reports
2026

Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.

Radiology case reports
2026

Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

Radiology case reports
2026

The Hidden Perils of Allopurinol: A Systematic Review of Allopurinol-Induced DRESS (Drug Reaction With Eosinophilia and Systemic Symptoms) Syndrome.

Cureus
2026

Implantable cardioverter-defibrillator utilization in coronary artery spasm: A case series of cardiac arrest survivors and a patient with typical angiography.

American heart journal plus : cardiology research and practice

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de distonia - afonia

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Doenças 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.

  1. Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
    Journal of Korean medical science· 2026· PMID 41873445mais citado
  2. Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
    Journal of Korean medical science· 2026· PMID 41873444mais citado
  3. Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
    Nature communications· 2026· PMID 41872207mais citado
  4. Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
    Journal of pediatric gastroenterology and nutrition· 2026· PMID 41872049mais citado
  5. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  6. Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
    Eur J Pediatr· 2026· PMID 41865194recente
  7. Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.
    Aging Clin Exp Res· 2026· PMID 41863684recente
  8. [Endogenous Alcohol Production in the Human Micro- and Mycobiome: Auto-Brewery Syndrome].
    Z Gastroenterol· 2026· PMID 41862195recente
  9. Improvement of Progressive Vanishing Lung Syndrome in COPD: A 7-Year Radiological Evolution Case Report and Literature Review.
    Int J Chron Obstruct Pulmon Dis· 2026· PMID 41859013recente
  10. Anastomotic leakage increases the risk of major low anterior resection syndrome 3 years after rectal cancer surgery.
    Colorectal Dis· 2026· PMID 41839822recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:412217(Orphanet)
  2. MONDO:0018476(MONDO)
  3. Distonia e Espasticidade(PCDT · Ministério da Saúde)
  4. GARD:21739(GARD (NIH))
  5. Q55788107(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

Compêndio · Raras BR

Síndrome de distonia - afonia

ORPHA:412217 · MONDO:0018476
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
32 casos conhecidos
Herança
Autosomal dominant
CID-10
G24.8 · Outras distonias
Início
Adolescent, Adult, Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5190573
Repurposing
1 candidato
procyclidineacetylcholine receptor antagonist
Wikidata
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