Definition:
Lafora disease is a deadly autosomal hereditary disease marked by the presence of inclusion bodies within the cells of neurons, heart, liver, skin, and muscles. These inclusion bodies are known as Lafora bodies. Lafora Disease is name after a Spanish neuropathologist, Gonzalo Rodriguez Lafora.
Diagnosis:
Axillary skin biopsy examination is initiated to show manifestations of Lafora bodies within the sweat cells of the skin; thus confirm diagnosis of Lafora Disease.
Treatment:
There is no specific treatment for Lafora Disease but there are symptomatic approaches to control the symptoms of the disease. Antiepileptic drugs are prescribed to control seizure and Myoclonus.
Symptoms and Signs:
In Lafora disease, the first symptoms usually appear during the adolescent periods. The presentations include:
* Drop attacks
* Seizures
* Myoclonus- brief, involuntary twitching of a particular muscle or any group of muscles; also known as progressive myoclonic epilepsy.
* Gross incoordination of muscle movements; also known as ataxia
* Severe dementia that quickly progresses
Causes:
There is no confirmed basis for the real cause of Lafora Disease; however there is genetic analysis that reveals that a gene encoding the protein Laforin is greatly involved with the occurrence of the disease. The name of the gene encoding the protein Laforin is referred to as EPM2A.
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