Autosomal recessive ataxia due to ubiquinone deficiency

disorder

SNOMED 725394006CUI C2677589

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.

Ataxia

Always present (100%)HP:0001251

Epilepsy

Always present (100%)HP:0001250

Increased intramyocellular lipid droplets

Always present (100%)HP:0012240

Kojevnikov's epilepsia

Always present (100%)HP:0012847

Atrophic cerebellum

Very frequent (80-99%)HP:0001272

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Central hypotonia

Frequent (30-79%)HP:0001252

Elevated lactate:pyruvate ratio

Frequent (30-79%)HP:0032653

Eyelid ptosis

Frequent (30-79%)HP:0000508

Focal T2 hypointense basal ganglia lesion

Frequent (30-79%)HP:0012752

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Moderate mental retardation

Frequent (30-79%)HP:0002342

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Psychomotor regression

Frequent (30-79%)HP:0002376

Talipes cavus equinovarus

Frequent (30-79%)HP:0004696

Truncal hypotonia

Frequent (30-79%)HP:0008936

Abnormal electromyography finding

Occasional (5-29%)HP:0003457

Cognitive delay

Occasional (5-29%)HP:0001263

Corticospinal signs

Occasional (5-29%)HP:0007256

Higher than normal levels of lactate in blood

Occasional (5-29%)HP:0002151

Increased CSF lactic acid

Occasional (5-29%)HP:0002490

Increased reflexes

Occasional (5-29%)HP:0001347

Jerking

Occasional (5-29%)HP:0001336

Low intelligence

Occasional (5-29%)HP:0001249

Neurodevelopmental delay

Occasional (5-29%)HP:0012758

Squint

Occasional (5-29%)HP:0000486

Tremor

Occasional (5-29%)HP:0001337

Deafness

Very rare (1-4%)HP:0000365

Related Conditions

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 725394006
UMLS CUI: C2677589
Fully Specified Name: Autosomal recessive ataxia due to ubiquinone deficiency (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.