IllnessTorsion dystonia, idiopathic

Request form illness

Summary

Short information

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

TS0270

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

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	605204	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.

OMIM-Ps

605204

ICD10 Code

Bioinformatics and clinical interpretation

No text defined