Clinical Signs and Symptoms
ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
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.
- Cerebellar atrophy HP:0001272
- Progressive cerebellar ataxia HP:0002073
Very frequent
- Brisk reflexes HP:0001348
- Central hypotonia HP:0011398
- Developmental regression HP:0002376
- Exercise intolerance HP:0003546
- Focal T2 hypointense basal ganglia lesion HP:0012752
- Intellectual disability, moderate HP:0002342
- Proximal muscle weakness HP:0003701
- Talipes cavus equinovarus HP:0004696
Frequent
- Abnormal pyramidal sign HP:0007256
- EMG abnormality HP:0003457
- Hyperreflexia HP:0001347
- Increased CSF lactate HP:0002490
- Increased serum lactate HP:0002151
- Lactic acidosis HP:0003128
- Myoclonus HP:0001336
- Neurodevelopmental delay HP:0012758
- Seizures HP:0001250
- Strabismus HP:0000486
- Tremor HP:0001337
Occasional
- Dystonia HP:0001332
- Gynecomastia HP:0000771
- Hearing impairment HP:0000365
Rare
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.