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Infantile-onset ascending hereditary spastic paralysis
disorderSNOMED 703543005CUI C2931441
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deglutition disorder
Always present (100%)HP:0002015
Muscle weakness
Always present (100%)HP:0001324
Slow visual tracking
Always present (100%)HP:0000514
Chewing difficulties
Very frequent (80-99%)HP:0005216
Corticospinal signs
Very frequent (80-99%)HP:0007256
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Loss of articulate speech
Very frequent (80-99%)HP:0002425
Quadriplegia
Very frequent (80-99%)HP:0002445
Spastic paraplegia
Very frequent (80-99%)HP:0001258
Spastic quadriplegia
Very frequent (80-99%)HP:0002510
Eye movement issue
Frequent (30-79%)HP:0000496
Pseudobulbar behavioural symptoms
Frequent (30-79%)HP:0002193
Abnormal eye
HP:0000478
Achilles tendon contracture
HP:0001771
Cavus foot
HP:0001761
Delayed motor milestones
HP:0001270
Disorder of face
HP:0000271
Extensor plantar responses
HP:0003487
Involvement of the corticospinal pathways
HP:0002492
Lower motor neuron manifestations
HP:0002366
Scoliosis
HP:0002650
Urinary incontinence
HP:0000020
Related Conditions
Quick Facts
- SNOMED CT
- 703543005
- UMLS CUI
- C2931441
- Fully Specified Name
- Infantile ascending hereditary spastic paralysis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.