Clinical Signs and Symptoms
ORPHA:101109 Spinocerebellar ataxia type 28
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.
- Dysarthria HP:0001260
- Gait ataxia HP:0002066
- Limb ataxia HP:0002070
- Lower limb hyperreflexia HP:0002395
Very frequent
- Babinski sign HP:0003487
- Nystagmus HP:0000639
- Ophthalmoparesis HP:0000597
- Ptosis HP:0000508
- Slow saccadic eye movements HP:0000514
Frequent
- Kinetic tremor HP:0030186
- Parkinsonism HP:0001300
Occasional
- Behavioral abnormality HP:0000708
- Cognitive impairment HP:0100543
- Depressivity HP:0000716
- Dystonia HP:0001332
- Head tremor HP:0002346
- Limb dystonia HP:0002451
- Memory impairment HP:0002354
- Rigidity HP:0002063
- Spasticity HP:0001257
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.