Autosomal recessive spastic paraplegia type 74

disorder

SNOMED 1187191003CUI C5568837

Overview

Autosomal recessive spastic paraplegia type 74 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.

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Decreased activity of mitochondrial complex I

Frequent (30-79%)HP:0011923

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Distal peripheral sensory neuropathy

Frequent (30-79%)HP:0007067

EMG: neuropathic changes

Frequent (30-79%)HP:0003445

Gait disturbance

Frequent (30-79%)HP:0001288

Hyporeflexia at ankle joints

Frequent (30-79%)HP:0009072

Overactive knee reflex

Frequent (30-79%)HP:0007083

Pes cavus

Frequent (30-79%)HP:0001761

Respiratory complex II deficiency

Frequent (30-79%)HP:0008314

Optic atrophy

Occasional (5-29%)HP:0000648

Cerebral white matter atrophy

Very rare (1-4%)HP:0012762

Hypoplasia of corpus callosum

Very rare (1-4%)HP:0002079

Infratentorial atrophy

Very rare (1-4%)HP:0001272

Absent tendon reflexes

HP:0001284

Extensor plantar responses

HP:0003487

Impaired vision

HP:0000505

Increased reflexes

HP:0001347

Loss of distal sensation

HP:0002936

Partial loss of field of vision

HP:0001123

Spastic paraplegia

HP:0001258

Related Conditions

SPOAN and SPOAN-related disorder(parent)

Quick Facts

SNOMED CT: 1187191003
UMLS CUI: C5568837
Fully Specified Name: Autosomal recessive spastic paraplegia type 74 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.