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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessTorsion dystonia, idiopathic


Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Torsion dystonia, idiopathic

Number of genes
1 Accredited laboratory test
Examined sequence length
1,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGs +


Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Movement disorder with involuntary, repetitive, sustained muscle contractions/postures, typically begins in a single limb followed by progression to other limbs/trunk, typically sparing the cranial + cervical region

Myoclonus-dystonia syndrome (ORPHA36899): mild to moderate dystonia with 'lightning-like' myoclonic jerks


  • Alias: Dystonia musculorum deformans 1 (TOR1A)
  • Alias: Early-onset generalized limb-onset dystonia (TOR1A)
  • Alias: Early-onset generalized torsion dystonia (TOR1A)
  • Alias: Early-onset isolated dystonia (TOR1A)
  • Alias: Early-onset primary dystonia (TOR1A)
  • Alias: Early-onset torsion dystonia (TOR1A)
  • Alias: Idiopathic torsion dystonia (TOR1A)
  • Alias: Oppenheim dystonia (TOR1A)
  • Myoclonus-dystonia syndrome; Alcohol-responsive dystonia, hereditary essential myoclonus (TOR1A)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined