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Summary
DOPA-RESPONSIVE DYSTONIA
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATIONS DOPA-RESPONSIVE DYSTONIA DRD
600225
OMIM = Online Medalian Inheritance of Men
101150
14q22.1-q22.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
symptoms
diurnal fluctuation of symptom
dysphagia
dystonia
hyperthermia
hypertonia, spasticity
hypokinesia
hypotonia
mental retardation
muscular rigidity
Parkinsonism
scoliosis
seizures
tremor or twitching
laboratory finding
Homovanillic acid decreasedspinal fluid
5-Hydroxyindolacetic acid normal/decreasedspinal fluid
Neopterin decreasedspinal fluid
Biopterin0.000.00 decreasedcerebrospinal fluidall
Phenylalanine (Phe) loading test0.000.00 positivebloodall
Literature
van Geet Cet al.Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsJ Inherit Metab Dis244477-4922001
Neufeld EFM+ÔéČnzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980