Autosomal recessive spastic paraplegia type 55

disorder

SNOMED 723825006CUI C3539506

Overview

Autosomal recessive spastic paraplegia type 55 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.

Central scotoma

Always present (100%)HP:0000603

Decreased distal vibration sense

Always present (100%)HP:0006886

Impaired distal tactile sensation

Always present (100%)HP:0006937

Lower limb amyotrophy

Always present (100%)HP:0007210

Spastic paraplegia

Always present (100%)HP:0001258

Tibialis anterior amyotrophy

Always present (100%)HP:0011399

Damaged optic nerve

Frequent (30-79%)HP:0001138

Decreased sensory NCV

Frequent (30-79%)HP:0003448

Decreased visual acuity

Frequent (30-79%)HP:0007663

Extensor plantar responses

Frequent (30-79%)HP:0003487

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Focal white matter lesions

Frequent (30-79%)HP:0007042

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Knee clonus

Frequent (30-79%)HP:0011449

Loss of distal sensation

Frequent (30-79%)HP:0002936

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mental retardation, mild

Frequent (30-79%)HP:0001256

Muscle atrophy, neurogenic

Frequent (30-79%)HP:0003202

Onion bulb formation

Frequent (30-79%)HP:0003383

Optic atrophy

Frequent (30-79%)HP:0000648

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Spastic paraparesis

Frequent (30-79%)HP:0002313

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Steppage gait

Frequent (30-79%)HP:0003376

Tibialis muscle weakness

Frequent (30-79%)HP:0008963

Upper limb muscle weakness

Frequent (30-79%)HP:0003484

Arthrogryposis multiplex

Occasional (5-29%)HP:0002804

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Related Conditions

SPOAN and SPOAN-related disorder(parent)

Quick Facts

SNOMED CT: 723825006
UMLS CUI: C3539506
Fully Specified Name: Autosomal recessive spastic paraplegia type 55 (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.