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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

Summary

Spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is an autosomal recessive neuromuscular disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. Additional features usually include dysarthria, hyporeflexia, and increased serum creatine kinase. Some patients may have impaired intellectual development (summary by Higuchi et al., 2018). For a discussion of genetic heterogeneity of SCAN, see SCAN1 (607250). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C1orf163, RESA1, SCAN3, SELRC1, COA7
    Summary: cytochrome c oxidase assembly factor 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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