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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

71 tests are in the database for this condition.

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Clinical tests (71 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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