early-onset generalized limb-onset dystonia
Findings
No curated finding names early-onset generalized limb-onset dystonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.
Definition from the Mondo Disease Ontology (MONDO:0007492), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Neonatal onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent Achilles reflexHPOHP:0003438
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 1 of 1 reported patient
- Generalized dystoniaHPOHP:0007325
Show the remaining 6
- Oromandibular dystoniaHPOHP:0012048
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 1 of 1 reported patient
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TOR1AHGNC:3098
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- EIF2AK2HGNC:9437
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
15 names
Resolves to: early-onset generalized limb-onset dystonia
- Also called
- dystonia musculorum deformansdystonia-1, torsionDYT-TOR1ADYT1early onset primary dystoniaearly onset torsion dystoniaearly-onset generalised torsion dystoniaearly-onset generalized torsion dystoniaearly-onset primary dystoniaearly-onset torsion dystoniaEOTDidiopathic dystoniaOppenheim dystoniaOppenheim's dystoniatorsion dystonia type 1