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MedlinePlus Health Topics
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C3683483
http://purl.bioontology.org/ontology/MEDLINEPLUS/C3683483
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|---|---|
| Preferred Name | Recessive ataxia of Beauce |
| Definitions |
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
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| Synonyms |
ARCA1
Autosomal recessive spinocerebellar ataxia 8
Autosomal recessive cerebellar ataxia type 1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair. |
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| altLabel |
ARCA1
Autosomal recessive spinocerebellar ataxia 8
Autosomal recessive cerebellar ataxia type 1
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| prefLabel | Recessive ataxia of Beauce
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| Associated condition of | |
| DB XR ID | GTR:C1853116~MeSH:D002524~OMIM:610743~SNOMED CT:230233000
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| Inheritance | ar:Autosomal recessive
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| type | |
| tui | T047
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| notation | C3683483
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| Semantic type UMLS property | |
| cui | C3683483
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