Lafora Disease

Description:
Lafora Disease is a disorder that occurs in children and adolescents. It is one of the five progressive myclonus epilepsy. This disease causes the progressive decline in mental function; therefore, the disease attacks the nervous system. By that I mean sugars are inappropriately deposited into the cells of the brain, liver, muscle and skin. These deposits are called Lafora Bodies and they interfere with the brain’s normal function. Usually, this disease develops in the early teens and is caused by mutations in genes.


Inheritance:
This genetic disease is autosomal recessive. That means that both parents must be carriers (having the genes of the disease, but the disease did not affect them). Also, it must be in chromosomes 1-22. Another way to inherit the disease is by a mutation in two genes, EMP2A and EMP2B or in chromosome 6. Some genes that cause the disorder are yet to be discovered, too. The chances of the offspring receiving the disease are: 25% normal with no genes, 50% carriers, and 25% the child has the disease.



Symptoms:
There are many symptoms of the disease. The child could have the following: seizures, muscle spasms, difficulty walking, dementia, temporary blindness, visual hallucinations, depression, poor performance in school, and eventually death.




Daily Life:



Diagnosis:
The disease is diagnosed by a biopsy of an individual’s skin, liver, muscle, or brain. It is most commonly take from the skin, though. After the biopsy is taken, the sample is put under a microscope and you can tell if the disorder is in there because there are abnormal sugars. Another way to find out if you are a carrier or have the disease is by a genetics test that can detect the disease. On the contrary, these tests are very expensive.





Treatment:
Currently, no cure exists. In the early stages of the disease, antiepileptic medications are taken to reduce the amount of seizures. However, as the disease progresses, the medication becomes useless. In order to control symptoms, individuals must be followed closely by a pediatrician, neurologist, and/or other specialists. In the future, researchers say that bone marrow transplant and/or gene therapy might cure this disease. Contrarily, neither have been effective yet. Another way to reduce seizures is therapy. Also, a new way to get rid of 20 years of Lafora Bodies has been discovered. By putting amylase into the brain cells for a few minutes or hours, 20 years of Lafora Bodies can be destroyed. This is the best way the disease if controlled today.



Research:
Research about bone marrow transplant and gene therapy are going on currently. Other researchers are trying to find out the exact mechanisms of Lafora Disease to replace deficient proteins in the nerve cells. One way to get rid of the Lafora Bodies (as mentioned before) is to digest amylase (an enzyme made in everyone’s saliva) and make sure it is in the brain cells to get rid of 20 years worth Lafora Bodies. Another research plan to cure the disease is to replace Laforin/Malin in the brain to reverse the problem. Additionally, there are a group of purebred dogs who have the disease currently. Using their DNA, scientists might be able to find a cure.



Additional Facts:
This disease can start as early as 5 or 6 in a child. The affects are the same in both male and female, but this disease is most common in the Mediterranean, countries of South Europe, Northern Africa, and the Middle East. Overall, the disease is rare worldwide. Lafora Disease is called an “orphan” disease sometimes and receives very little, if any, government funding. This is one of five myclonus epilepsy syndromes. If the parents had the symptoms and the child born has the disease, the child will receive symptoms before the parent’s first attack. Lafora Disease was first described in 1911 by a Spanish pathologist, Gonzalo Lafora, who worked at a U.S. mental asylum. In 1998, a team in Toronto, Canada found the gene responsible for Lafora Disease.




Punnett Square:

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Pedigree Chart:

Dimpie_S_Pedigree_Chart.PNG

Pictures:
lafora_girl.jpgLafora_Boy.jpgLafora_Skin_Biopsy.jpg
Resources:

Include hyperlink to websites that you used as part of your research.
http://www.madisonsfoundation.org/index.php/component/option,com_mpower/Itemid,49/diseaseID,624 about Lafora Disease by Madisons Foundation
http://rarediseases.info.nih.gov/GARD/Condition/8214/Lafora_disease.aspx about Lafora Disease
http://rarediseases.about.com/od/rarediseasesl/a/lafora05.htm about Lafora Disease
http://www.chelseashope.org/whatislafora.html about Lafora Disease and Lafora Research by Chelsea's Hope Foundation
http://www.epilepsyontario.org/client/EO/EOWeb.nsf/web/Lafora's+Disease about Lafora Disease