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| 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.
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| mortalityrate | - Inevitably fatal, almost always within ten years of appearance of symptoms
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| symptom | - Seizures, myoclonus, ataxia, dementia
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| Cause | - Inheriting faulty gene from both parents
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| 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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