Clinical Signs and Symptoms
ORPHA:95 Friedreich ataxia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Gait ataxia HP:0002066
Always present
- Babinski sign HP:0003487
- Dysarthria HP:0001260
- Gait imbalance HP:0002141
- Hand muscle atrophy HP:0009130
- Impaired proprioception HP:0010831
- Limb ataxia HP:0002070
Very frequent
- Abnormal saccadic eye movements HP:0000570
- Abnormality of the foot HP:0001760
- Areflexia of lower limbs HP:0002522
- Cardiomyopathy HP:0001638
- Cervical spinal cord atrophy HP:0010873
- Dysmetria HP:0001310
- Falls HP:0002527
- Impaired visually enhanced vestibulo-ocular reflex HP:0030183
- Intention tremor HP:0002080
- Muscle weakness HP:0001324
- Nystagmus HP:0000639
- Optic atrophy HP:0000648
- Pes cavus HP:0001761
- Poor fine motor coordination HP:0007010
- Scoliosis HP:0002650
- Sensory axonal neuropathy HP:0003390
- Urinary bladder sphincter dysfunction HP:0002839
Frequent
- Chorea HP:0002072
- Decreased motor nerve conduction velocity HP:0003431
- Diabetes mellitus HP:0000819
- Dysphagia HP:0002015
- Dystonia HP:0001332
- Hearing impairment HP:0000365
- Inability to walk HP:0002540
- Incomprehensible speech HP:0002546
- Reduced visual acuity HP:0007663
- Spasticity HP:0001257
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.