Question

can you all help me do research on Lafora progressive myoclonus epilepsy
using this site https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy

Answer 1

what happens if u have this disease/condition
what does the mutated/incorrect protein do or not do? How does this mutated protein cause the disease

Answer 2

@justjm @justus @Ultrilliam @Vocaloid @AngeI

Answer 3

If you have the site can't you do your research yourself

Answer 4

ill try to help

Answer 5

lets start reading xD

Answer 6

actually I think I got it, I just need to read it more carefully

Answer 7

I got this from there
1. what happens if you have that disease/ condition
Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.

Answer 8

To research stuff on long webpages faster, use the command/ctrl + F to activate find, then type in a keyword spelled correctly

1. what happens if u have this disease/condition - type in 'symptoms'
"The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time."
"About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.

2. I typed in 'genes' and 'gene' and '[space]gene'
"Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. In the remaining cases, the cause of the condition is unknown. "
"Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin."
"Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain

3. I typed in 'inheritance'
"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. "


you could do more if you need different info

Answer 9

daingit

Answer 10

I can't give 2 medals xD

Answer 11

just give it to justjm obviously xD

Answer 12

Nooooo

Answer 13

dont listen to him xd

Answer 14

u two are meant for each other xD

Answer 15

heyyyy undooo

Answer 16

I got a second account for u justjm

Answer 17

darkknight lol it's fine

Answer 18

undo right now xD or else

Answer 19

do what I said

Answer 20

thank you xd

Answer 21

Maybe this will help you

Answer 22

Lafora Disease

This type of PME is also called Lafora epilepsy, progressive myoclonus 2, and EPM2A.
Lafora disease is characterized by the buildup of Lafora bodies (carbohydrate/surger particles) in cells in the brain and spinal cord. The Lafora bodies can also be found in muscles or skin cells.
Although this syndrome begins more specifically in adolescents (12-15 years), there is a form of Lafora disease that can start as young as age 5.
After seizures start, there is a rapid worsening of cognition (thinking), visual loss, and coordination. This differs from EPM1, which has a significant motor decline first.
Cognitive decline impairs motor planning, causing difficulty with brushing teeth, brushing hair, and bringing utensils to the mouth. The decline usually occurs within the first 10 years. People with Lafora disease also have a shortened life span.

Answer 23

for justus