← Back to Conditions

Autosomal recessive dopa responsive dystonia

disorder
SNOMED 715827001CUI C5700309

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.

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 motor milestones
Frequent (30-79%)HP:0001270
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
Irritability
Frequent (30-79%)HP:0000737
Jerking
Frequent (30-79%)HP:0001336
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
Muscular hypotonia
Frequent (30-79%)HP:0001252
Night sweats
Frequent (30-79%)HP:0030166
Oculogyric crisis
Frequent (30-79%)HP:0010553
Oversalivation
Frequent (30-79%)HP:0003781
Parkinsonian disease
Frequent (30-79%)HP:0001300
Postural tremor
Frequent (30-79%)HP:0002174
Slowness of movements
Frequent (30-79%)HP:0002067
Speech and language difficulties
Frequent (30-79%)HP:0000750
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.