Myoclonic epilepsy of Lafora
Lafora disease

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Description from OMIM

The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).



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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Seizures nervous 94 % 15781812 2013-04-09
Mental retardation nervous 82 % 15781812 2013-04-09
Gait disturbances nervous 47 % 15781812 2013-04-09
Hepatopathy digestive 6 % 15781812 2013-04-09



List of references:


Lafora disease due to EPM2B mutations: a clinical and genetic study.
C Gómez-Abad, P Gómez-Garre, E Gutiérrez-Delicado, S Saygi, R Michelucci, C A Tassinari, S Rodríguez de Córdoba, J M Serratosa,

To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease.

Neurology - Mar 2005