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Lafora disease

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Lafora Disease has recently been widely accepted as being a Glycogen Storage Disease. It is an ultra-rare, progressive, autosomal recessive neurodegenerative disorder characterized by intractable seizures, difficulty walking, muscle spasms, neurological deterioration, rapid cognitive decline, dementia, and death typically within 10 years of onset. It is caused by loss-of-function mutations in either the laforin gene (EPM2A) or malin gene (EPM2B) and is associated with gradual accumulation of Lafora bodies, aggregates of poorly branched, hyperphosphorylated, insoluble glycogen also known as polyglusan.

According to the United States National Institutes of Health (NIH), the signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated convulsions in infancy or early childhood.

The most common feature of Lafora disease is recurrent seizures. They generally become worse and more difficult to treat over time.

With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care.

Other names

Progressive myoclonus types 2 and 2A epilepsy

Affected

Cells throughout the body

Inheritance Autosomal recessive
Incidence Unknown, ultra rare
UK diagnosed None
Symptoms

Seizures, difficulty walking, muscle spasms, neurological deterioration.

Secondary symptoms

Cognitive decline.

Treatment

Biotech research into a treatment is ongoing.

Outlook

Typically onset in late childhood with death within 10 years.

 

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