Clinical Signs and Symptoms
ORPHA:276198 Spinocerebellar ataxia type 36
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.
- Ataxia HP:0001251
- Dysarthria HP:0001260
- Hearing impairment HP:0000365
- Limb ataxia HP:0002070
- Truncal ataxia HP:0002078
Very frequent
- Babinski sign HP:0003487
- Blurred vision HP:0000622
- Difficulty walking HP:0002355
- Dysmetria HP:0001310
- Fasciculations HP:0002380
- Loss of Purkinje cells in the cerebellar vermis HP:0007001
- Skeletal muscle atrophy HP:0003202
- Slow saccadic eye movements HP:0000514
- Tongue atrophy HP:0012473
- Tongue fasciculations HP:0001308
Frequent
- Hyperreflexia HP:0001347
- Ptosis HP:0000508
Occasional
- Attention deficit hyperactivity disorder HP:0007018
- Bowel incontinence HP:0002607
- Diplopia HP:0000651
- Dysphagia HP:0002015
- Hand tremor HP:0002378
- Head tremor HP:0002346
- Intention tremor HP:0002080
- Limb myoclonus HP:0045084
- Migraine HP:0002076
- Vertigo HP:0002321
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.