AADC Deficiency
Conditions
Interventions
When a patient who is the subject of the study is seen, the materials will be used by the principal investigator/associate investigator to explain the disease AADC deficiency and the significance of t
Application Form Checklist"
below) should be checked and mailed together with the filter paper blood. The Jichi Medical University Department of Pediatrics will measure the 3-OMD and make a decision as to whether it is normal or
Sponsors
Jichi Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: With any of the following symptoms: Abnormal Ocular Seizures (Also called Oculogyric Crisis, in which the eyeballs are fixed in vertical, abducted, or adducted positions, sometimes with tension or abnormal posture. They occur in paroxysms every few days, lasting from a few minutes to several hours.) decreased muscle tone: Abnormal movement: dystonia, athetosis, little movement Ptosis, diurnal fluctuations in physical condition, which recover after sleep Sleep disturbances: excessive sleep, insomnia Psychiatric symptoms: Easily stimulated, mood swings Autonomic symptoms: Hyperhidrosis, drooling, nasal obstruction, diarrhea or constipation, temperature dysregulation Hypoglycemic attacks
Exclusion criteria
Exclusion criteria: Risk factors for cerebral palsy (prematurity, low birth weight, multiple births, low blood sugar, jaundice/nucleus pulposus, parenthood, intracranial hemorrhage, infection, stroke, head injury, etc.)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| prevalence of AADC deficiency, prevalence of elevated 3-OMD | — |
Secondary
| Measure | Time frame |
|---|---|
| validity as a screening test | — |
Countries
Japan
Contacts
Public ContactHitoshi Osaka
Jichi Medical University Department of Pediatrics
Outcome results
None listed