About: Lafora disease

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Lafora disease is a terminal untreatable genetic condition that results in the breakdown of neurons and affects glycogen metabolism. It only presents when a patient inherits copies of a defective gene from both parents. Patients rarely live past the age of 25 and usually present with symptoms in adolescence. Once diagnosed by finding the "Lafora bodies" during a biopsy, it can now be definitively diagnosed by less invasive genetic testing. Treatment focuses on symptoms and supportive care. Patients usually succumb to severe ataxia and dementia in the later stages.

Attributes	Values
rdfs:label	Lafora disease
rdfs:comment	Lafora disease is a terminal untreatable genetic condition that results in the breakdown of neurons and affects glycogen metabolism. It only presents when a patient inherits copies of a defective gene from both parents. Patients rarely live past the age of 25 and usually present with symptoms in adolescence. Once diagnosed by finding the "Lafora bodies" during a biopsy, it can now be definitively diagnosed by less invasive genetic testing. Treatment focuses on symptoms and supportive care. Patients usually succumb to severe ataxia and dementia in the later stages.
sameAs	dbr:Lafora_disease
dcterms:subject	Diseases Genetics
mortalityrate	Inevitably fatal, almost always within ten years of appearance of symptoms
symptom	Seizures, myoclonus, ataxia, dementia
dbkwik:house/prope...iPageUsesTemplate	dbkwik:resource/2pprzMEqwVk7gNVcrxanIg== dbkwik:resource/Upz-fkP1JXO0-kISSOYWHw==
Name	Lafora disease
Type	Genetic
treatment	None
Cause	Inheriting faulty gene from both parents
abstract	Lafora disease is a terminal untreatable genetic condition that results in the breakdown of neurons and affects glycogen metabolism. It only presents when a patient inherits copies of a defective gene from both parents. Patients rarely live past the age of 25 and usually present with symptoms in adolescence. Once diagnosed by finding the "Lafora bodies" during a biopsy, it can now be definitively diagnosed by less invasive genetic testing. Treatment focuses on symptoms and supportive care. Patients usually succumb to severe ataxia and dementia in the later stages.

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