| DYSTONIA, DOPA-RESPONSIVE; DRD | |
| SEGAWA SYNDROME; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATIONS | |
|
128230
OMIM = Online Mendelian Inheritance of Men | |
|
98808 | |
| GTP cyclohydrolase 1 | |
| 3.5.4.16 | |
| rare (>400 cases) autosomal dominant | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) Biopterin dec (cerebrospinal fluid) Biopterin dec (plasma) Homovanillic acid (HVA) dec (cerebrospinal fluid) Neopterin dec (cerebrospinal fluid) Phenylalanine normal (plasma) Phenylalanine (Phe) loading test inc (plasma) Phenylalanine/Tyrosine inc (plasma) |
| Symptoms | attention deficit disorder behavior, aggressive dystonia feeding difficulties, poor feeding hypertonia, spasticity intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) ptosis (drooping eyelid) swallowing difficulties temperature instability tremor or twitching ataxia defect of walking, running, rising or climbing diurnal fluctuation of symptom dyskinesia dysphagia hand and/or feet deformities hyperreflexia hypersalivation hypokinesia hypotonia onset, adolescent onset, childhood Parkinsonism progressive neurologic defect scoliosis torticollis |