ALTERNATE NAMES

EPM2; Lafora Progressive Myoclonus Epilepsy; PME Type 2; Progressive Myoclonic Epilepsy Type 2; Progressive Myoclonus Epilepsy Type 2

DESCRIPTION

Lafora disease is a rare, fatal, autosomal recessive neurodegenerative disorder caused by mutations in the EPM2A or NHLRC1 (also known as EPM2B) genes leading to the accumulation of "Lafora bodies" in the brain. The disease typically presents in adolescence between ages 8 and 19. It is progressive and characterized by epilepsy with generalized tonic-clonic seizures, myoclonus, focal occipital seizures with visual symptoms, rapid cognitive decline, and dementia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Testing to diagnose Lafora disease may include:

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  Electroencephalogram (EEG);

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  Brain magnetic resonance imaging (MRI);

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  Brain F-fluorodeoxyglucose-positron emission tomography (FDG-PET) scan; and

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  Biopsy of skin and other tissues may reveal Lafora bodies, however false positives and false negatives are common.

Targeted genetic testing of the EPM2A and NHLRC1 genes confirm the diagnosis.

Physical findings: Signs and symptoms of Lafora disease may include:

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  Myoclonus (sudden, involuntary muscle jerking or twitching);

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  Seizures;

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  Rapid cognitive decline;

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  Ataxia (problems with balance);

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  Dysarthria (speech difficulties);

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  Spasticity;

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  Emotional disturbances;

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  Memory loss and dementia; and

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  Occasional hallucinations.

ICD-9: 333.2; 345.1x

ICD-10: G40.C; G40.C01; G40.C09; G40.C11

PROGRESSION

The onset of Lafora disease typically occurs during late childhood or adolescence. The disease is progressive. The frequency and severity of seizures increase, often leading to status epilepticus (continuous seizure activity). Ataxia contributes to motor disability. Cognitive decline initially begins with school difficulties and progresses to dementia. Most individuals die within 10 years of symptom onset.

TREATMENT

There is no cure for Lafora disease. Treatment is palliative and focuses on managing seizures and maintaining quality of life.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Genetic testing confirming the presence of EPM2A and NHLRC1 mutations;

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  Results of skin and/or tissue biopsy considered in the context of the clinical findings; and

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  Results of brain imaging (EEG, MRI, FDG-PET).

Suggested Listings for Evaluation:

Meet

11.02

11.17

111.02

111.17

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