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

IllnessSegawa syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Segawa syndrome comprising 4 guideline-curated or altogether 7 curated genes according to the clinical signs

ID
SP0710
Number of genes
7 Accredited laboratory test
Examined sequence length
4,2 kb (Core-/Core-canditate-Genes)
10,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GCH1753NM_000161.3AD, AR
SPR786NM_003124.5AR
TH1587NM_199292.3AR
TOR1A999NM_000113.3AD
ATXN23462NM_002973.4AD
PINK11746NM_032409.3AR
PRKN1398NM_004562.3AR

Informations about the disease

Clinical Comment

ORPHA:98808 AD dopa-responsive dystonia, Synonym: AD Segawa syndrome

Neurometabolic disorder with childhood-onset dystonia: dramatic + sustained response to low doses of levodopa (L-dopa) that may be associated with parkinsonism in older age

ORPHA:101150 AR dopa-responsive dystonia, Synonym: AR Segawa syndrome

Neurometabolic disorder with spectrum of symptoms ranging from those seen in dopa-responsive dystonia to progressive infantile encephalopathy

 

Synonyms
  • Alias: AD Segawa syndrome
  • Alias: AD dopa-responsive dystonia
  • Alias: AR Segawa syndrome
  • Alias: AR dopa-responsive dystonia
  • Alias: DOPA responsive Dystonie
  • Alias: GTPCH1-deficient dopa-responsive dystonia
  • Alias: Hereditary progressive dystonia with marked diurnal fluctuation
  • Allelic: Adenocarcinoma of lung, somatic (PRKN)
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Allelic: Ovarian cancer, somatic (PRKN)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2_CAG)
  • Allelic: Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2_CAG)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia-1, modifier of (TOR1A)
  • Dystonia-1, torsion (TOR1A)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Segawa syndrome, AR (TH)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined