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GTR Home > Conditions/Phenotypes > Encephalopathy, progressive, with amyotrophy and optic atrophy

Encephalopathy, progressive, with amyotrophy and optic atrophy

Summary

Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (Sferra et al., 2016). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HRD, KCS, KCS1, PEAMO, pac2, TBCE
    Summary: tubulin folding cofactor E

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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