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GTR Home > Conditions/Phenotypes > Early-onset Lafora body disease

Early-onset Lafora body disease

Synonyms
Epilepsy, progressive myoclonic, 10
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Progressive myoclonic epilepsy-10 (EPM10) is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM10, KMT8D, PFM5, PRDM8
    Summary: PR/SET domain 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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