# Distonia focal, segmentar ou multifocal

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

## Identificadores

- **ORPHA**: 1866 — https://www.orpha.net/en/disease/detail/1866
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Distúrbio neurológico raro do movimento caracterizado por contrações musculares sustentadas de uma única região do corpo, geralmente produzindo movimentos de torção e repetitivos ou posturas ou posições anormais.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (78 fenótipos HPO)

- **Convulsão** — HPO: HP:0001250
- **Coreia** — HPO: HP:0002072
- **Ataxia da marcha** — HPO: HP:0002066
- **Bruxismo** — HPO: HP:0003763
- **Boca aberta** — HPO: HP:0000194
- **Hipertrofia dos músculos do pescoço** — HPO: HP:0012893
- **Alimentação por sonda nasogástrica na infância** — HPO: HP:0011470
- **Tremor postural** — HPO: HP:0002174
- **Discinesia orofacial** — HPO: HP:0002310
- **Sialorreia** — HPO: HP:0002307
- **Parkinsonismo** — HPO: HP:0001300
- **Torcicolo** — HPO: HP:0000473
- **Tremor de membro** — HPO: HP:0200085
- **Constituição esguia** — HPO: HP:0001533
- **Distonia focal** — HPO: HP:0004373
- **Atrofia cerebelar** — HPO: HP:0001272
- **Anormalidade da articulação temporomandibular** — HPO: HP:0010754
- **Marcha instável** — HPO: HP:0002317
- **Distonia oromandibular** — HPO: HP:0012048
- **Atrofia cortical cerebral** — HPO: HP:0002120
- **Dificuldades alimentares** — HPO: HP:0011968
- **Atrofia cerebral** — HPO: HP:0012444
- **Tremor na mão** — HPO: HP:0002378
- **Distonia do braço** — HPO: HP:0031960
- **Distonia craniofacial** — HPO: HP:0012179
- **Arritmia supraventricular** — HPO: HP:0005115
- **Bochechas encovadas** — HPO: HP:0009938
- **Anormalidade de movimento da língua** — HPO: HP:0000182
- **Disartria** — HPO: HP:0001260
- **Disfonia** — HPO: HP:0001618
- **Atraso motor** — HPO: HP:0001270
- **Morfologia anormal da mandíbula** — HPO: HP:0000277
- **Cifoescoliose** — HPO: HP:0002751
- **Distúrbio da marcha** — HPO: HP:0001288
- **Distonia laríngea** — HPO: HP:0012049
- **Blefaroespasmo** — HPO: HP:0000643
- **Dor** — HPO: HP:0012531
- **Discinesia** — HPO: HP:0100660
- **Depressão** — HPO: HP:0000716
- **Distonia generalizada** — HPO: HP:0007325
- _...e mais 38 sintomas. Ver https://raras.org/doenca/distonia-focal-segmentar-ou-multifocal._

## Genes associados (7)

- **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
- **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
- **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
- **CIZ1** — Cip1-interacting zinc finger protein [Candidate gene tested in]
  - Função: May regulate the subcellular localization of CIP/WAF1
- **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
- **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
- **COL6A3** — Collagen alpha-3(VI) chain [Disease-causing germline mutation(s) in]
  - Função: Collagen VI acts as a cell-binding protein

## 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_0015990

## 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
- **NCT05095740** [RECRUITING]: Effects of Neuromodulation in Laryngeal Dystonia — https://clinicaltrials.gov/study/NCT05095740
- **NCT02911103** [ACTIVE_NOT_RECRUITING]: Deep Brain Stimulation Surgery for Focal Hand Dystonia — https://clinicaltrials.gov/study/NCT02911103
- **NCT02689466** [COMPLETED]: Cholinergic Receptor Imaging in Dystonia — https://clinicaltrials.gov/study/NCT02689466
- **NCT04692285** [COMPLETED]: Electrophysiological and Neuroimaging Correlates of the Effect of Zolpidem in Patients With Focal Dystonia — https://clinicaltrials.gov/study/NCT04692285
- **NCT01823237** [SUSPENDED]: Effect of Increasing Motor Cortex Inhibition on Task Specific Dystonia — https://clinicaltrials.gov/study/NCT01823237
- **NCT02107261** [COMPLETED]: Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand — https://clinicaltrials.gov/study/NCT02107261
- **NCT00118586** [COMPLETED]: Neuropathology of Spasmodic Dysphonia — https://clinicaltrials.gov/study/NCT00118586
- **NCT02334683** [COMPLETED]: Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia — https://clinicaltrials.gov/study/NCT02334683
- **NCT03797638** [COMPLETED]: Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer's Cramp and in Control Subjects — https://clinicaltrials.gov/study/NCT03797638

## Doenças relacionadas (por similaridade fenotípica)

- [Distonia primária de torção](https://raras.org/doenca/distonia-primaria-de-torcao) — ORPHA:156159 — 78 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 44 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 28 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 24 sintomas em comum
- [Neurodegenerescência associada a pantotenato quinase](https://raras.org/doenca/neurodegenerescencia-associada-a-pantotenato-quinase) — ORPHA:157850 — 24 sintomas em comum
- [Distonia idiopática de torção não-DYT1](https://raras.org/doenca/distonia-idiopatica-de-torcao-nao-dyt1) — ORPHA:98805 — 23 sintomas em comum
- [Neurodegenerescência associada a PLA2G6](https://raras.org/doenca/neurodegenerescencia-associada-a-pla2g6) — ORPHA:329303 — 23 sintomas em comum
- [Doença do metabolismo das aminas biogênicas](https://raras.org/doenca/doenca-do-metabolismo-das-aminas-biogenicas) — ORPHA:79169 — 23 sintomas em comum
- [Calcinose-estrio-pálido-dentada bilateral](https://raras.org/doenca/calcinose-estrio-palido-dentada-bilateral) — ORPHA:1980 — 23 sintomas em comum
- [Atrofia sistêmica múltipla](https://raras.org/doenca/102) — ORPHA:102 — 22 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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