Autosomal dominant dopa responsive dystonia

disorder

SNOMED 715768000CUI C1851920

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Dystonic disease

Always present (100%)HP:0001332

Favourable response to levodopa

Always present (100%)HP:0002548

Increased reflexes

Always present (100%)HP:0001347

Nystagmus, horizontal, gaze-evoked

Always present (100%)HP:0007979

Abnormality of the substantia nigra

Frequent (30-79%)HP:0045007

Ataxia

Frequent (30-79%)HP:0001251

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Deafness

Frequent (30-79%)HP:0000365

Decreased CSF homovanillic acid concentration

Frequent (30-79%)HP:0003785

Depressive episode

Frequent (30-79%)HP:0000716

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Extensor plantar responses

Frequent (30-79%)HP:0003487

Extrapyramidal dysfunction

Frequent (30-79%)HP:0002071

Focal dystonia

Frequent (30-79%)HP:0004373

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Incoordination

Frequent (30-79%)HP:0002311

Jaw hyperreflexia

Frequent (30-79%)HP:0033683

Limb dystonia

Frequent (30-79%)HP:0002451

Lower limb hyperreflexia

Frequent (30-79%)HP:0002395

Muscle rigidity

Frequent (30-79%)HP:0002063

Parkinsonian disease

Frequent (30-79%)HP:0001300

Pes cavus

Frequent (30-79%)HP:0001761

Postural tremor

Frequent (30-79%)HP:0002174

Tiredness

Frequent (30-79%)HP:0012378

Torticollis

Frequent (30-79%)HP:0000473

Transient hyperphenylalaninemia

Frequent (30-79%)HP:0008297

Trouble sleeping

Frequent (30-79%)HP:0002360

Related Conditions

Autosomal dominant hereditary disorder(parent)

Diurnal dystonia(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 715768000
UMLS CUI: C1851920
Fully Specified Name: Autosomal dominant dopa responsive dystonia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.