Autosomal recessive spastic paraplegia type 76

disorder

SNOMED 1172631001CUI C5567483

Overview

Autosomal recessive spastic paraplegia type 76 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.

Abnormality of balance

Always present (100%)HP:0002141

Appendicular spasticity

Always present (100%)HP:0034353

Degeneration of cerebellum

Always present (100%)HP:0001272

Spastic ataxia

Always present (100%)HP:0002497

Vermian atrophy

Always present (100%)HP:0006855

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Lower limb hyperreflexia

Very frequent (80-99%)HP:0002395

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Spasticity of lower limb

Very frequent (80-99%)HP:0002061

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Ataxia

Frequent (30-79%)HP:0001251

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Loss of ambulation

Frequent (30-79%)HP:0002505

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Muscle wasting

Frequent (30-79%)HP:0003202

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Pes cavus

Frequent (30-79%)HP:0001761

Upper extremity spasticity

Frequent (30-79%)HP:0006986

Upper limb hyperreflexia

Frequent (30-79%)HP:0007350

Ankle clonus

Occasional (5-29%)HP:0011448

Appendicular ataxia

Occasional (5-29%)HP:0002070

Eye movement issue

Occasional (5-29%)HP:0000496

Gait disturbance

Occasional (5-29%)HP:0001288

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Loss of distal sensation

Occasional (5-29%)HP:0002936

Peripheral sensory axonal neuropathy

Occasional (5-29%)HP:0003390

Pes valgus

Occasional (5-29%)HP:0008081

Poor bladder function

Occasional (5-29%)HP:0000009

Scoliosis

Occasional (5-29%)HP:0002650

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 1172631001
UMLS CUI: C5567483
Fully Specified Name: Autosomal recessive spastic paraplegia type 76 (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.