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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 8

Spinocerebellar ataxia type 8

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 8
SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
John Douglas Cleary
SH Subramony
Laura PW Ranum
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Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , ATXN8
    Summary: ataxin 8

  • Also known as: KLHL1AS, NCRNA00003, SCA8, ATXN8OS
    Summary: ATXN8 opposite strand lncRNA

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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