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GTR Home > Conditions/Phenotypes > Infantile onset spinocerebellar ataxia

Infantile onset spinocerebellar ataxia

Synonyms
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS; Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; SCA8 (formerly); Spinocerebellar ataxia 8 (formerly); Spinocerebellar ataxia infantile with sensory neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven years. By adolescence, affected individuals are profoundly deaf and no longer ambulatory; sensory axonal neuropathy, optic atrophy, autonomic nervous system dysfunction, and hypergonadotropic hypogonadism in females become evident. Epilepsy can develop into a serious and often fatal encephalopathy: myoclonic jerks or focal clonic seizures that progress to epilepsia partialis continua followed by status epilepticus with loss of consciousness. [from GeneReviews]

Available tests

73 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL, TWNK
    Summary: twinkle mtDNA helicase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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