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Lafora disease
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Lafora disease

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Contributors: Jennifer Vermilion MD, Jamie Adams MD, Richard L. Barbano MD, PhD
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Synopsis

Lafora disease is a rare autosomal recessive type of progressive myoclonus epilepsy resulting in recurrent seizures and neurodegeneration. Although it is most commonly seen in Mediterranean countries, northern Africa, the Middle East, and southern India, it can occur in any part of the world. Symptoms typically start in adolescence, most commonly between 14 and 16 years of age. Lafora disease presents in previously healthy adolescents with new-onset seizures.

The most commonly seen types of seizures are myoclonic, generalized tonic-clonic, and occipital. Occipital seizures can present as transient blindness or visual hallucinations. Over time, intractable epilepsy develops, and myoclonus becomes nearly constant. Rapidly progressive dementia, dysarthria, ataxia, and visual loss occur over time. Patients become wheelchair dependent and eventually bedridden. Prognosis is poor, and death occurs within 10 years of symptom onset.

For more information, see OMIM.

Codes

ICD10CM:
G40.309 –  Generalized idiopathic epilepsy and epileptic syndromes, not intractable, without status epilepticus

SNOMEDCT:
230425004 – Lafora's Disease

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Last Reviewed: 09/21/2018
Last Updated: 10/05/2018
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Lafora disease
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Lafora disease : Ataxia, Blindness, Dysarthria, Myoclonus, Visual hallucination
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