Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency

disorder

SNOMED 763348005CUI C4706412

Overview

Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency 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.

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Axonal neuropathy

Frequent (30-79%)HP:0003477

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Corticospinal signs

Frequent (30-79%)HP:0007256

Deglutition disorder

Frequent (30-79%)HP:0002015

Impaired proprioception

Frequent (30-79%)HP:0010831

Impaired saccades

Frequent (30-79%)HP:0000570

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Rigid dysarthria

Frequent (30-79%)HP:0002464

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Cavus foot

Occasional (5-29%)HP:0001761

Distal muscle atrophy, upper and lower limbs

Occasional (5-29%)HP:0003693

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Head tremor

Occasional (5-29%)HP:0002346

Scoliosis

Occasional (5-29%)HP:0002650

Sensorineural deafness

Occasional (5-29%)HP:0000407

Supratentorial atrophy

Occasional (5-29%)HP:0002059

Urinary incontinence

Occasional (5-29%)HP:0000020

Instability or lack of coordination of central trunk muscles

Very rare (1-4%)HP:0002078

Mental retardation, mild

Very rare (1-4%)HP:0001256

Related Conditions

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Sphingolipidosis(parent)

Hereditary ataxia(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 763348005
UMLS CUI: C4706412
Fully Specified Name: Autosomal recessive cerebellar ataxia with late-onset spasticity (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.