lafora+disease


 * __Overview__**: Lafora disease is an extreme form of epilepsy which affects the neurological functions of the brain. This disorder causes extreme seizures, cognitive decline, dementia and eventually death. Also, Lafora Disease is autosomal recessive genetic disorder which means that 2 copies of the gene must be present for the disease trait to be expressed (7).

The most common first sign of Lafora is having epileptic seizures during one's childhood. Most of the time, before these occur, the child seems normal. The signs typically start to show at age 11-18 (1). Other times the child may show slight signs as a baby. Sometimes a skin biopsy is taken to confirm the diagnosis (6). Someone who has this disorder could suffer from liver failure, blindness, sun sensitivity, walk abnormally, and experience seizures. Most patients do not live for more than 25 years and there's currently no cure for the disease (2). After a patient is diagnosed, it is expected that they won't live longer than ten years.
 * __Signs and Synopsis__:**

Having this disorder is rare and inherited. It is a recessive mutation. The mutation has to be present in every cell on the sixth chromosome. The mutation is in the EPM2A or the NHLRC1 ( EPM2B) gene which is very important to the brain and its function (3). At conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for relatives at risk and prenatal diagnosis for at-risk pregnancies is possible if the pathogenic variants in the family are known (6).
 * __Genetics__:**




 * __Distribution__:** This disease is rare in America, but is commonly found in Southern Europe in countries like Italy, France, and Spain. Other places it occurs are Pakistan, India, and North Africa (2). The disease is very rare and there are only about 200 cases of it worldwide (7).


 * __Management and Treatment__:** As of today, there is no cure for Lafora disease. There are some Anti-Epileptic medications that help control the seizures but the treatment varies on each patient affected. It is easier to deal with Lafora early in the diagnosis. The longer you have the disease, the stronger it gets (4). Evaluations of those affected should be performed every three to six months (6).


 * __Society and Culture__:** This disorder affects the way a person is able to contribute to society because they are no longer able to move, to speak, and to perform everyday activities. This is due to the extreme forms of epilepsy and the amount of damage it has on the brain.


 * __History__:** The disease is named after Gonzalo Rodriguez Lafora, a Spanish neurologist. The disease was first described in 1911. This is when he described the intracytoplasmic inclusion bodies in Lafora disease.


 * __Miscellaneous__:** Lafora Disease is found spontaneously in all breeds of dogs and the Miniature Wire-haired Dachshund, the Bassett Hound, and the Beagle are predisposed to the disease (5).

[|Lafora Disease, Genetic and Rare Diseases Center]
 * __Further Research__:**

1. “Lafora Disease.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, [|rarediseases.info.nih.gov/diseases/8214/lafora-disease.]
 * __References__:**

2.“Lafora Disease-Symptoms, Causes, Treatment.” Lafora Disease-Symptoms, Causes, Treatment, [|www.myhealthyfeeling.com/lafora-disease-symptoms-causes-treatment/.]

3. Lafora Disease, [|www.medlink.com/article/lafora_disease.]

4. “Lafora Progressive Myoclonus Epilepsy - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, [|ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy]

5. Kamm, Kurt. “LAFORA DISEASE.” Lafora Disease Research, [|www.canineepilepsy.co.uk/lafora-disease-research.html.]

6. Jansen, Anna C. “Progressive Myoclonus Epilepsy, Lafora Type.” GeneReviews® [Internet]., U.S. National Library of Medicine, 22 Jan. 2015, [|www.ncbi.nlm.nih.gov/books/NBK1389/].

7. “John Sharp, a Jersey Man with Lafora Disease Has Died.” BBC News, BBC, 12 Jan. 2012, www.bbc.com/news/world-europe-jersey-16535068.