Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Abnormality of balance
Very frequent (80-99%)HP:0002141
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Extensor plantar responses
Very frequent (80-99%)HP:0003487
Hand muscle atrophy
Very frequent (80-99%)HP:0009130
Impaired proprioception
Very frequent (80-99%)HP:0010831
Abnormal finger-nose-finger test
Frequent (30-79%)HP:0001310
Abnormality of central motor conduction
Frequent (30-79%)HP:0012079
Abnormality of the autonomic nervous system
Frequent (30-79%)HP:0002270
Abnormality of the feet
Frequent (30-79%)HP:0001760
Areflexia in lower limbs
Frequent (30-79%)HP:0002522
Cavus foot
Frequent (30-79%)HP:0001761
Cervical spinal cord atrophy
Frequent (30-79%)HP:0010873
Clumsiness
Frequent (30-79%)HP:0002312
Disease of the heart muscle
Frequent (30-79%)HP:0001638
EKG abnormality
Frequent (30-79%)HP:0003115
Falls
Frequent (30-79%)HP:0002527
Fetal foot inversion
Frequent (30-79%)HP:0001762
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Impaired saccades
Frequent (30-79%)HP:0000570
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Impaired visually enhanced vestibulo-ocular reflex
Frequent (30-79%)HP:0030183
Inflammatory bowel disease
Frequent (30-79%)HP:0002037
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Muscle spasm
Frequent (30-79%)HP:0003394
Muscle weakness
Frequent (30-79%)HP:0001324
Persistent blue colour of hands or feet
Frequent (30-79%)HP:0001063
Scoliosis
Frequent (30-79%)HP:0002650
Sensory axonal neuropathy
Frequent (30-79%)HP:0003390
Sphincter disturbances
Frequent (30-79%)HP:0002839
Related Conditions
Posterior cord syndrome due to Friedreich ataxia(child)
Spinocerebellar disease(parent)
Hereditary cerebellar degeneration(parent)
Hereditary ataxia(parent)
Cerebellar ataxia(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary peripheral neuropathy(parent)
Chronic brain syndrome(parent)
Chronic disorder of spinal cord(parent)
Quick Facts
- SNOMED CT
- 10394003
- UMLS CUI
- C0004138
- Fully Specified Name
- Friedreich ataxia (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.