Autosomal recessive dopa responsive dystonia

disorder

SNOMED 715827001CUI C5700309

Overview

By MedlinePlus, National Library of Medicine

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

Signs & Symptoms

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

Ataxia

Frequent (30-79%)HP:0001251

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Cavus foot

Frequent (30-79%)HP:0001761

Constipation

Frequent (30-79%)HP:0002019

Decreased CSF homovanillic acid concentration

Frequent (30-79%)HP:0003785

Decreased muscle movement

Frequent (30-79%)HP:0002375

Delayed language development

Frequent (30-79%)HP:0000750

Excessive salivation

Frequent (30-79%)HP:0003781

Extensor plantar responses

Frequent (30-79%)HP:0003487

Extrapyramidal syndrome

Frequent (30-79%)HP:0002071

Eye drop

Frequent (30-79%)HP:0000508

Feeding difficulties

Frequent (30-79%)HP:0011968

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

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Irritability

Frequent (30-79%)HP:0000737

Languor

Frequent (30-79%)HP:0001254

Limb dystonia

Frequent (30-79%)HP:0002451

Lower limb hyperreflexia

Frequent (30-79%)HP:0002395

Muscle rigidity

Frequent (30-79%)HP:0002063

Night sweats

Frequent (30-79%)HP:0030166

No development of motor milestones

Frequent (30-79%)HP:0001270

Oculogyric crisis

Frequent (30-79%)HP:0010553

Parkinsonian disease

Frequent (30-79%)HP:0001300

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Postural tremor

Frequent (30-79%)HP:0002174

Slowness of movements

Frequent (30-79%)HP:0002067

Generalised dystonia

Occasional (5-29%)HP:0007325

Mental retardation, mild

Occasional (5-29%)HP:0001256

Related Conditions

Autosomal recessive idiopathic familial dystonia(parent)

Diurnal dystonia(parent)

Quick Facts

SNOMED CT: 715827001
UMLS CUI: C5700309
Fully Specified Name: Autosomal recessive 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.