← Back to Conditions

Friedreich's ataxia

disorder
SNOMED 10394003CUI C0004138

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.

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 chase 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
Areflexia in lower limbs
Frequent (30-79%)HP:0002522
Cervical spinal cord atrophy
Frequent (30-79%)HP:0010873
Clumsiness
Frequent (30-79%)HP:0002312
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Disease of the heart muscle
Frequent (30-79%)HP:0001638
EKG abnormality
Frequent (30-79%)HP:0003115
Falls
Frequent (30-79%)HP:0002527
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Foot deformity
Frequent (30-79%)HP:0001760
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
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
Overactive bladder
Frequent (30-79%)HP:0000012
Persistent blue colour of hands or feet
Frequent (30-79%)HP:0001063
Pes cavus
Frequent (30-79%)HP:0001761
Sensory axonal neuropathy
Frequent (30-79%)HP:0003390

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.