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Summary
SEGAWA SYNDROME
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATIONS DOPA-RESPONSIVE DYSTONIA DRD
128230
OMIM = Online Medalian Inheritance of Men
98808
14q22.2
  • L-Dopa
rare (>400 cases)
autosomal dominant
symptoms
defect of walking, running, rising or climbing
dystonia
foot deformities
hypersalivation
hypertonia, spasticity
hypotonia
microcephaly
onset, adolescent
onset, childhood
Parkinsonism
progressive neurologic defect
tremor or twitching
laboratory finding
Homovanillic acid decreasedcerebrospinal fluid
Guanosine triphosphate cyclohydrolase
Biopterin decreasedcerebrospinal fluid
Neopterin decreasedcerebrospinal fluid
Biopterin0.000.00 decreasedurineno data
Neopterin0.000.00 decreasedurineno data
Biopterin decreasedplasma
Neopterin decreasedplasma
L-Phenylalanine increasedserum
Literature
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Ito MHypervalinemiaRyoikibetsu Shokogun Shirizu330843-8442001