Details of Disease

General Information of Disease (ID: DISU9G28)

Disease Name Early-onset Lafora body disease
Synonyms epilepsy, progressive myoclonic, 10; epilepsy, progressive myoclonic, type 10; EPM10
Definition
Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DISU9G28: Early-onset Lafora body disease
Disease Identifiers
MONDO ID
MONDO_0014717
UMLS CUI
C4225258
OMIM ID
616640
MedGen ID
907932
Orphanet ID
324290

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRDM8 OTRA3265 Strong Autosomal recessive [1]
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References

1 Bhlhb5 and Prdm8 form a repressor complex involved in neuronal circuit assembly. Neuron. 2012 Jan 26;73(2):292-303. doi: 10.1016/j.neuron.2011.09.035.