Clinical Signs and Symptoms
ORPHA:101 Dentatorubral pallidoluysian atrophy
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.
- Progressive cerebellar ataxia HP:0002073
Very frequent
- Action tremor HP:0002345
- Ataxia HP:0001251
- Choreoathetosis HP:0001266
- Cognitive impairment HP:0100543
- Dementia HP:0000726
- Dysarthria HP:0001260
- Dysdiadochokinesis HP:0002075
- Dysmetria HP:0001310
- Dyssynergia HP:0010867
- Gait ataxia HP:0002066
- Hyperintensity of cerebral white matter on MRI HP:0030890
- Hyporeflexia HP:0001265
- Impaired proprioception HP:0010831
- Involuntary movements HP:0004305
- Limb ataxia HP:0002070
- Myoclonus HP:0001336
- Nystagmus HP:0000639
- Ophthalmoparesis HP:0000597
- Optic neuropathy HP:0001138
- Saccadic smooth pursuit HP:0001152
- Seizure HP:0001250
- Truncal ataxia HP:0002078
Frequent
- Blepharospasm HP:0000643
- Memory impairment HP:0002354
- Oromandibular dystonia HP:0012048
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.