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Spinocerebellar ataxia 7

Synonyms
ADCA type 2; ADCA, TYPE II; OLIVOPONTOCEREBELLAR ATROPHY III; OPCA III; Olivopontocerebellar atrophy 3
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 7
Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Albert R La Spada
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Available tests

69 tests are in the database for this condition.

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Clinical tests (69 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCAII, OPCA3, SCA7, SGF73, ATXN7
    Summary: ataxin 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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