# Distonia primária de torção

> Página oficial: https://raras.org/doenca/distonia-primaria-de-torcao
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 156159 — https://www.orpha.net/en/disease/detail/156159
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma distonia que não faz parte de um conjunto de problemas de saúde mais abrangente.

## Epidemiologia e herança


## Sinais e sintomas (95 fenótipos HPO)

- **Atrofia cortical cerebral** — HPO: HP:0002120
- **Movimentos bruscos da cabeça** — HPO: HP:0006961
- **Tremor vocal** — HPO: HP:0012477
- **Hipotonia axial** — HPO: HP:0008936
- **Caretas faciais** — HPO: HP:0000273
- **Arritmia** — HPO: HP:0011675
- **Voz rouca** — HPO: HP:0001609
- **Disfagia** — HPO: HP:0002015
- **Distonia axial** — HPO: HP:0002530
- **Hábito eunucóide** — HPO: HP:0003782
- **Distonia lingual** — HPO: HP:0031008
- **Hemibalismo** — HPO: HP:0100248
- **Hipotonia** — HPO: HP:0001252
- **Distonia generalizada** — HPO: HP:0007325
- **Arritmia supraventricular** — HPO: HP:0005115
- **Distonia de torção** — HPO: HP:0001304
- **Distonia craniofacial** — HPO: HP:0012179
- **Tremor na mão** — HPO: HP:0002378
- **Início na infância** — HPO: HP:0003593
- **Distonia oromandibular** — HPO: HP:0012048
- **Disdiadococinesia** — HPO: HP:0002075
- **Hiperreflexia** — HPO: HP:0001347
- **Marcha instável** — HPO: HP:0002317
- **Constituição esguia** — HPO: HP:0001533
- **Atraso motor** — HPO: HP:0001270
- **Desconforto respiratório** — HPO: HP:0002098
- **Ataque de pânico** — HPO: HP:0025269
- **Paralisia facial** — HPO: HP:0010628
- **Cifose** — HPO: HP:0002808
- **Hemidistonia** — HPO: HP:0032005
- **Atrofia cerebelar** — HPO: HP:0001272
- **Sialorreia** — HPO: HP:0002307
- **Boca aberta** — HPO: HP:0000194
- **Hipertonia** — HPO: HP:0001276
- **Sinal de Babinski** — HPO: HP:0003487
- **Hipertrofia dos músculos do pescoço** — HPO: HP:0012893
- **Torcicolo** — HPO: HP:0000473
- **Anormalidade do movimento** — HPO: HP:0100022
- **Face estreita** — HPO: HP:0000275
- **Postura anormal** — HPO: HP:0002533
- _...e mais 55 sintomas. Ver https://raras.org/doenca/distonia-primaria-de-torcao._

## Genes associados (11)

- **COL6A3** — Collagen alpha-3(VI) chain [Disease-causing germline mutation(s) in]
  - Função: Collagen VI acts as a cell-binding protein
- **PDE10A** — cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A [Disease-causing germline mutation(s) in]
  - Função: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydro
- **THAP1** — THAP domain-containing protein 1 [Disease-causing germline mutation(s) in]
  - Função: DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modu
- **TUBB4A** — Tubulin beta-4A chain [Disease-causing germline mutation(s) in]
  - Função: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the additio
- **GNAL** — Guanine nucleotide-binding protein G(olf) subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotid
- **ANO3** — Anoctamin-3 [Disease-causing germline mutation(s) in]
  - Função: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling
- **CIZ1** — Cip1-interacting zinc finger protein [Candidate gene tested in]
  - Função: May regulate the subcellular localization of CIP/WAF1
- **SHQ1** — Protein SHQ1 homolog [Candidate gene tested in]
  - Função: Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association wi
- **EIF2AK2** — Interferon-induced, double-stranded RNA-activated protein kinase [Candidate gene tested in]
  - Função: IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate
- **TOR1A** — Torsin-1A [Disease-causing germline mutation(s) in]
  - Função: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regu
- **HPCA** — Neuron-specific calcium-binding protein hippocalcin [Disease-causing germline mutation(s) in]
  - Função: Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulat

## Medicamentos em desenvolvimento (3)

- INCOBOTULINUMTOXINA — Fase Phase 3 (Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor)
- LEVETIRACETAM — Fase Phase 2 (Voltage-gated N-type calcium channel alpha-1B subunit blocker)
- ABOBOTULINUMTOXINA — Fase Phase 1 (Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015494

## Ensaios clínicos ativos (3)

- **NCT07304089** [RECRUITING]: A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia — https://clinicaltrials.gov/study/NCT07304089
- **NCT07111663** [RECRUITING]: An Observational Study of Individuals With Isolated Dystonia — https://clinicaltrials.gov/study/NCT07111663
- **NCT05317390** [RECRUITING]: Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia — https://clinicaltrials.gov/study/NCT05317390
- **NCT01934296** [COMPLETED]: Chronic Effects of DBS in Parkinson's Disease and Dystonia — https://clinicaltrials.gov/study/NCT01934296

## Doenças relacionadas (por similaridade fenotípica)

- [Distonia focal, segmentar ou multifocal](https://raras.org/doenca/distonia-focal-segmentar-ou-multifocal) — ORPHA:1866 — 78 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 49 sintomas em comum
- [Distonia isolada generalizada](https://raras.org/doenca/distonia-isolada-generalizada) — ORPHA:376724 — 39 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 31 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 31 sintomas em comum
- [Distonia generalizada dos membros de início precoce](https://raras.org/doenca/distonia-generalizada-dos-membros-de-inicio-precoce) — ORPHA:256 — 29 sintomas em comum
- [Doença do metabolismo das aminas biogênicas](https://raras.org/doenca/doenca-do-metabolismo-das-aminas-biogenicas) — ORPHA:79169 — 28 sintomas em comum
- [Neurodegenerescência associada a PLA2G6](https://raras.org/doenca/neurodegenerescencia-associada-a-pla2g6) — ORPHA:329303 — 28 sintomas em comum
- [Neurodegenerescência associada a pantotenato quinase](https://raras.org/doenca/neurodegenerescencia-associada-a-pantotenato-quinase) — ORPHA:157850 — 28 sintomas em comum
- [Atrofia sistêmica múltipla](https://raras.org/doenca/102) — ORPHA:102 — 27 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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