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SynopsisLafora 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.
G40.309 – Generalized idiopathic epilepsy and epileptic syndromes, not intractable, without status epilepticus
230425004 – Lafora's Disease
Differential Diagnosis & Pitfalls
- Idiopathic generalized epilepsy (see seizure)
- Juvenile myoclonic epilepsy
- Other progressive myoclonus epilepsies, including myoclonus epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinoses (NCLs), Unverricht-Lundborg disease, and sialidosis
- Gaucher disease
- Niemann-Pick disease
- Dentatorubropallidoluysian atrophy
- Lennox-Gastaut syndrome
- Dravet syndrome