Spastic paraplegia, optic atrophy, neuropathy syndrome

disorder

SNOMED 725139005CUI C1836010

Overview

Spastic paraplegia, optic atrophy, neuropathy syndrome 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 muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Multiple joint contractures

Very frequent (80-99%)HP:0002828

Optic atrophy

Very frequent (80-99%)HP:0000648

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Ankle clonus

Frequent (30-79%)HP:0011448

Axonal neuropathy

Frequent (30-79%)HP:0003477

Cavus foot

Frequent (30-79%)HP:0001761

Decreased number of large and small myelinated fibres

Frequent (30-79%)HP:0003380

Delayed gross motor development

Frequent (30-79%)HP:0002194

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Distal sensory loss, especially vibratory sense

Frequent (30-79%)HP:0002166

Gait disturbance

Frequent (30-79%)HP:0001288

Hunched back

Frequent (30-79%)HP:0002808

Hyperekplexia

Frequent (30-79%)HP:0002267

Hyperreflexia proximally

Frequent (30-79%)HP:0007054

Hyporeflexia of lower limbs

Frequent (30-79%)HP:0002600

Lower limb muscle hypotrophy

Frequent (30-79%)HP:0008944

Optic disc pallor

Frequent (30-79%)HP:0000543

Progressive spastic paraplegia

Frequent (30-79%)HP:0007020

Scoliosis

Frequent (30-79%)HP:0002650

Sweating

Frequent (30-79%)HP:0000975

Extensor plantar responses

Occasional (5-29%)HP:0003487

Extrapyramidal syndrome

Occasional (5-29%)HP:0002071

Inability to walk

Occasional (5-29%)HP:0002540

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Delayed motor milestones

HP:0001270

Distal motor neuropathy

HP:0007002

Flexion contractures

HP:0001371

Peripheral sensory axonal neuropathy

HP:0003390

Spastic paraplegia

HP:0001258

Related Conditions

SPOAN and SPOAN-related disorder(parent)

Quick Facts

SNOMED CT: 725139005
UMLS CUI: C1836010
Fully Specified Name: Spastic paraplegia, optic atrophy, neuropathy syndrome (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.