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Lafora disease

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Lafora disease
Pathology
Type

Genetic

Cause(s)

Inheriting faulty gene from both parents

Symptoms

Seizures, myoclonus, ataxia, dementia

Mortality Rate

Inevitably fatal, almost always within ten years of appearance of symptoms

Treatments

None

Show Information
  [Source]


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.

Lafora disease at Wikipedia

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