Lafora disease
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| Lafora disease Classification and external resources |
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| ICD-10 | G40.3 |
|---|---|
| ICD-9 | 333.2 |
| OMIM | 254780 |
| DiseasesDB | 30834 |
| MeSH | D020192 |
Lafora disease, also called Lafora progressive myoclonic epilepsy, is a fatal autosomal recessive[1] extrapyramidal disease characterized by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle, and skin.
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[edit] Presentation
The patients develop the first symptoms mainly during adolescence. Major problems are seizure, drop attacks, myoclonus (progressive myoclonic epilepsy), ataxia, and most importantly a quickly developing, progressive and severe dementia.[1]
[edit] Eponym
This disease is named after Gonzalo Rodriguez Lafora (1887-1971), a Spanish neuropathologist. [2]
[edit] Diagnosis
Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination. The inclusion bodies (which seem to comprise high levels of carbohydrates) are typically labeled by a specific stain called PAS (Periodic acid-Schiff).
[edit] Pathophysiology
Neither the origin of these inclusions nor the exact mechanisms by which they cause the disease are known. Genetic studies indicate that mutations in the EPM2A gene encoding the protein laforin, and the NHLRC1 (EPM2B) gene encoding the protein malin are associated with the disease. Both genes are located on chromosome 6.[1]
[edit] Prognosis
There is no treatment, and the therapy is mainly supportive and symptomatic. Although seizure and myoclonus can be controlled for a long period by using antiepileptic drugs, patients rarely survive beyond one or two decades due to the devastating effects of dementia and ataxia.
[edit] External links
[edit] References
- ^ a b c Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA (2005). "Lafora progressive Myoclonus Epilepsy mutation database - EPM2A and NHLRC1 (EPM2B) genes". Hum Mutat. 26 (4): 397. doi:. PMID 16134145.
- ^ Lafora's disease at Who Named It
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