Lafora disease

However, it has a higher incidence among children and adolescents with ancestry from regions where consanguineous relationships are common, namely the Mediterranean (North Africa, Southern Europe), the Middle East, India, and Pakistan.

In dogs, Lafora disease can spontaneously occur in any breed, but the miniature wire-haired dachshund, bassett hound, and beagle are predisposed.

[8] Most patients with this disease do not live past the age of twenty-five, and it often leads to death within ten years of symptoms appearing.

[2][13] Other symptoms common with the seizures are drop attacks, ataxia, temporary blindness, visual hallucinations, and a quickly-developing and dramatic dementia.

[14] If areas of the cerebellum are affected by seizures, it is common to see problems with speech, coordination, and balance in Lafora patients.

People who advance to adulthood tend to lose their ability to do daily tasks by themselves, which can require comprehensive care.

If their symptoms progress extremely quickly or at an early age, patients receive comprehensive care, which – besides medication – means support during daily activities both physically and mentally.

The graph shows that there is a very large number of cases in Italy because of a higher occurrence of EPM2A gene mutation compared to any other country in the world.

[26] Glycogen in Lafora disease patients has abnormal chain lengths, which causes them to be insoluble, accumulate, and have a neurotoxic effect.

LD patients have longer chains that have clustered arrangement of branch points that form crystalline areas of double helices making it harder for them to clear the blood-brain barrier.

[27] Lafora disease is diagnosed by conducting a series of tests by a neurologist, epileptologist (person who specializes in epilepsy), or geneticist.

[29] Quality of life worsens as the years go on, with some patients requiring a feeding tube so that they can get the nutrition and medication they need in order to keep living, but not necessarily functioning.

[31] Recent research has investigated whether inhibition of glycogen synthesis through restriction of glucose intake could potentially stop the formation of the Lafora Bodies in neurons in laforin-deficient mice models while also reducing the chances of seizures.

[32][non-primary source needed] Researchers in the U.S., Canada, and Europe formed the Lafora Epilepsy Cure Initiative with funding from the National Institutes of Health.

The group aims to interrupt the process of how the mutations in laforin and malin interfere with normal carbohydrate metabolism in mice models.

' Graph 1' Represents data that shows how Lafora disease has been distributed throughout not just the United States but the world as a whole. This particular graph shows 250 families that have been affected by Lafora Disease. [ 19 ]
' Graph 2' Represents data that shows how the gene mutation for both EPM2A and EPM2B has been distributed around the world. The data goes to show that there are more cases caused by EPM2B than there are for EPM2B (NHLRC1). [ 19 ]
Lafora disease has an autosomal recessive pattern of inheritance. [ 18 ] EPM2A gene found on chromosome 6q24 and NHLRC1 gene found on chromosome 6p22.3. [ 20 ]
Gonzalo Rodríguez Lafora , discoverer of the disease