Overview
Autosomal recessive spastic ataxia type 4 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Extensor plantar responses
Very frequent (80-99%)HP:0003487
Increased reflexes
Very frequent (80-99%)HP:0001347
Optic atrophy
Very frequent (80-99%)HP:0000648
Overactive knee reflex
Very frequent (80-99%)HP:0007083
Spastic paraparesis
Very frequent (80-99%)HP:0002313
Appendicular ataxia
Frequent (30-79%)HP:0002070
Frequent falls
Frequent (30-79%)HP:0002359
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Hyporeflexia at ankle joints
Frequent (30-79%)HP:0009072
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Jerking
Frequent (30-79%)HP:0001336
Lower limb hypertonia
Frequent (30-79%)HP:0006895
Movement abnormality of the tongue
Frequent (30-79%)HP:0000182
No development of motor milestones
Frequent (30-79%)HP:0001270
Progressive cerebellar ataxia
Frequent (30-79%)HP:0002073
Upper limb hypertonia
Frequent (30-79%)HP:0200049
Delayed ability to walk
Occasional (5-29%)HP:0031936
Emotional lability
Occasional (5-29%)HP:0000712
Hyporeflexia
Occasional (5-29%)HP:0001265
Speech delay
Occasional (5-29%)HP:0000750
Spastic ataxia
HP:0002497
Quick Facts
- SNOMED CT
- 784347002
- UMLS CUI
- C3150925
- Fully Specified Name
- Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.