loading...| Preferred Name |
Autosomal dominant cerebellar ataxia |
|
| Synonyms |
ADCA Autosomal dominant spinocerebellar ataxia |
|
| Definitions |
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_99 |
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| alternative_term |
ADCA Autosomal dominant spinocerebellar ataxia |
|
| definition |
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
UMLS:C4087347 ICD-11:8A03.1Y |
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| label |
Autosomal dominant cerebellar ataxia |
|
| notation |
Category ORPHA:99 |
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| prefixIRI |
ORDO:Orphanet_99 |
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| prefLabel |
Autosomal dominant cerebellar ataxia |
|
| present_in |
Japan AND has_point_prevalence_average_value : 12.6 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98540 |