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)
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
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
G24.-
Bioinformatics and clinical interpretation
No text defined