Autosomal recessive spastic paraplegia type 57

disorder

SNOMED 723826007CUI C3714897

Overview

Autosomal recessive spastic paraplegia type 57 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.

Abnormal peripheral nerve transmission

Always present (100%)HP:0003134

Delayed ability to walk

Always present (100%)HP:0031936

Demyelinating motor neuropathy

Always present (100%)HP:0007220

Difficulty walking up stairs

Always present (100%)HP:0003551

Hand muscle atrophy

Always present (100%)HP:0009130

Increased reflexes

Always present (100%)HP:0001347

Loss of ambulation

Always present (100%)HP:0002505

Lower limb amyotrophy

Always present (100%)HP:0007210

Muscle weakness

Always present (100%)HP:0001324

Spasticity of lower limb

Always present (100%)HP:0002061

Standing instability

Always present (100%)HP:0003698

Visual loss

Always present (100%)HP:0000572

Abnormal myelination

Very frequent (80-99%)HP:0012447

Abnormality of the calcaneal tendon

Very frequent (80-99%)HP:0005109

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Inability to walk

Very frequent (80-99%)HP:0002540

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Lower limb muscle hypotrophy

Very frequent (80-99%)HP:0008944

Motor polyneuropathy

Very frequent (80-99%)HP:0007178

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Optic atrophy

Very frequent (80-99%)HP:0000648

Peripheral neuropathy

Very frequent (80-99%)HP:0009830

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Sensory impairment

Excluded (<1%)HP:0003474

Related Conditions

SPOAN and SPOAN-related disorder(parent)

Quick Facts

SNOMED CT: 723826007
UMLS CUI: C3714897
Fully Specified Name: Autosomal recessive spastic paraplegia type 57 (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.