loading...| Preferred Name |
Autosomal recessive cerebellar ataxia |
|
| Synonyms |
ARCA |
|
| Definitions |
A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_1172 |
|
| alternative_term |
ARCA |
|
| definition |
A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C5575375 |
|
| label |
Autosomal recessive cerebellar ataxia |
|
| notation |
Category ORPHA:1172 |
|
| prefixIRI |
ORDO:Orphanet_1172 |
|
| prefLabel |
Autosomal recessive cerebellar ataxia |
|
| present_in |
Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183518 |