Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

disorder

SNOMED 1236804009CUI C3281223

Overview

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 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.

Ataxia

Always present (100%)HP:0001251

Axonal loss

Always present (100%)HP:0003447

Decreased distal sensory nerve action potential

Always present (100%)HP:0007230

Gaze-evoked nystagmus

Always present (100%)HP:0000640

Peripheral neuropathy

Always present (100%)HP:0009830

Saccadic slow pursuit

Always present (100%)HP:0001152

Appendicular ataxia

Very frequent (80-99%)HP:0002070

Infratentorial atrophy

Very frequent (80-99%)HP:0001272

Vermian atrophy

Very frequent (80-99%)HP:0006855

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Abnormal REM sleep

Frequent (30-79%)HP:0002494

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Cerebellar tremor

Frequent (30-79%)HP:0002080

Coughing

Frequent (30-79%)HP:0012735

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Downbeat nystagmus

Frequent (30-79%)HP:0010545

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired pain sensation

Frequent (30-79%)HP:0007328

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Multiple joint contractures

Frequent (30-79%)HP:0002828

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Optic atrophy

Frequent (30-79%)HP:0000648

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Sensorineural deafness

Frequent (30-79%)HP:0000407

Related Conditions

Peripheral nerve disease(parent)

Auditory system hereditary disorder(parent)

Chronic bilateral vestibulopathy(parent)

Hereditary ataxia(parent)

Chronic brain syndrome(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1236804009
UMLS CUI: C3281223
Fully Specified Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (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.