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Lafora disease
Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF,〔http://www.rightdiagnosis.com/medical/melf.htm〕 is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin. In a later study, Lafora disease has been and is now viewed as a neurodegenerative disease, since prior to the actual formation of Lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons. It was further concluded that Lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder.〔Ortolano S, Vieitez I et al. Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMCID: PMC3917365〕
Most patients with this disease do not live past the age of twenty-five, and death within ten years of symptoms is usually inevitable. At present, there is no cure or treatment for this disease.
== Signs and symptoms ==
Patients develop the first symptoms mainly during adolescence. Major problems include seizures, drop attacks, myoclonus, ataxia, and, most significantly, a quickly-developing and severe dementia.〔
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