Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Generalised dystonia
Always present (100%)HP:0007325
Limb dystonia
Very frequent (80-99%)HP:0002451
Corticospinal signs
Frequent (30-79%)HP:0007256
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysphonia
Frequent (30-79%)HP:0001618
Increased reflexes
Frequent (30-79%)HP:0001347
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Parkinsonian disease
Frequent (30-79%)HP:0001300
Postural tremor
Frequent (30-79%)HP:0002174
Slowness of movements
Frequent (30-79%)HP:0002067
Torticollis
Frequent (30-79%)HP:0000473
Unsteady walk
Frequent (30-79%)HP:0002317
Cognitive deficits
Occasional (5-29%)HP:0100543
Delayed motor milestones
Occasional (5-29%)HP:0001270
Poor school performance
Very rare (1-4%)HP:0001249
Abnormal pyramidal tract morphology
HP:0002062
Dyskinesia
HP:0100660
Gait disturbance
HP:0001288
Involuntary movements
HP:0004305
Limb pain
HP:0009763
Lower limb pain
HP:0012514
Retrocollis
HP:0002544
Spasmodic dysphonia
HP:0012049
Speech difficulties
HP:0000750
Quick Facts
- SNOMED CT
- 722435003
- UMLS CUI
- C2677567
- Fully Specified Name
- Dystonia 16 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.