IllnessTorsion dystonia, idiopathic
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Torsion dystonia, idiopathic
ID
TS0270
Number of genes
1
Accredited laboratory test
Examined sequence length
1,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGs +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
TOR1A | 999 | NM_000113.3 | AD |
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
Synonyms
- 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
OMIM-Ps
ICD10 Code
G24.1
Bioinformatics and clinical interpretation
No text defined