autosomal dominant dopa-responsive dystonia
MONDO:0971063Mondo
Findings
No curated finding names autosomal dominant dopa-responsive dystonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
Definition from the Mondo Disease Ontology (MONDO:0971063), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal substantia nigra morphologyHPOHP:0045007
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- Decreased CSF homovanillic acid concentrationHPOHP:0003785
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
Reported absent (1)
- Intellectual disabilityHPOHP:0001249
Show the remaining 21
- Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Postural tremorHPOHP:0002174
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)