← Back to Conditions

AOA2 - ataxia oculomotor apraxia type 2

disorder
SNOMED 725408001CUI C1853761

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Degeneration of cerebellum
Always present (100%)HP:0001272
Difficulty articulating speech
Always present (100%)HP:0001260
Diminished deep tendon reflexes
Always present (100%)HP:0001315
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Impaired proprioception
Always present (100%)HP:0010831
Peripheral axonal neuropathy
Always present (100%)HP:0003477
Weakness of outermost muscles
Always present (100%)HP:0002460
Areflexia
Very frequent (80-99%)HP:0001284
Ataxia
Very frequent (80-99%)HP:0001251
Inability to coordinate movements when walking
Very frequent (80-99%)HP:0002066
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Vermian atrophy
Very frequent (80-99%)HP:0006855
Abnormality of balance
Frequent (30-79%)HP:0002141
Alpha fetoprotein abnormal
Frequent (30-79%)HP:0006254
Cavus foot
Frequent (30-79%)HP:0001761
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Oculomotor apraxia
Frequent (30-79%)HP:0000657
Sensory impairment
Frequent (30-79%)HP:0003474
Squint
Frequent (30-79%)HP:0000486
Tremor
Frequent (30-79%)HP:0001337
Choreiform movements
Occasional (5-29%)HP:0002072
Choreoathetosis
Occasional (5-29%)HP:0001266
Deglutition disorder
Occasional (5-29%)HP:0002015
Dystonic disease
Occasional (5-29%)HP:0001332
Elevated serum creatine phosphokinase
Occasional (5-29%)HP:0003236
Elevated total cholesterol
Occasional (5-29%)HP:0003124
Extensor plantar responses
Occasional (5-29%)HP:0003487
Head tremor
Occasional (5-29%)HP:0002346

Related Conditions

Cerebellar ataxia(parent)
Recessive hereditary disorder (autosomal)(parent)
Oculomotor apraxia(parent)
Hereditary disorder of the visual system(parent)
Hereditary ataxia(parent)

Quick Facts

SNOMED CT
725408001
UMLS CUI
C1853761
Fully Specified Name
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (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.