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Autosomal dominant hereditary spastic paraplegia
disorderSNOMED 737227004CUI C0751602
Overview
Autosomal dominant hereditary spastic paraplegia 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.
Distal limb muscle weakness due to peripheral neuropathy
Always present (100%)HP:0002460
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Cavus foot
HP:0001761
Corticospinal signs
HP:0007256
Decreased motor nerve conduction velocity
HP:0003431
Distal muscle atrophy, upper and lower limbs
HP:0003693
Dysphonia
HP:0001618
Extensor plantar responses
HP:0003487
Frequent falls
HP:0002359
Gait disturbance
HP:0001288
Hammertoe
HP:0001765
Inability to heel walk
HP:0009027
Limb muscle weakness
HP:0003690
Loss of distal sensation
HP:0002936
Lower limb pain
HP:0012514
Peripheral axonal neuropathy
HP:0003477
Sensory neuropathy
HP:0000763
Spasticity and rigidity of muscles
HP:0001276
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Autosomal dominant hereditary disorder(parent)
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Quick Facts
- SNOMED CT
- 737227004
- UMLS CUI
- C0751602
- Fully Specified Name
- Autosomal dominant hereditary spastic paraplegia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.