IllnessSegawa syndrome, differential diagnosis

NGS +

[Sanger]

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

• 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)