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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 18

Spinocerebellar ataxia type 18

Synonyms
Sensorimotor neuropathy with ataxia autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. [from SNOMEDCT_US]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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