Lafora's disease presents with?: (A) G.T.C.S, (B) Myoclonic epilepsy, (C) Petit mal epilepsy, (D) Paial seizures
Answer is B. Lafora's disease - It is a progressive myoclonic epilepsy with AR inheritance. -Onset: 6-19 years -Death within 10 years -Brain degeneration a/w polyglucosan intracellular inclusion bodies in numerous organs. - IOC: DNA sequencing which shows abnormality in EPM2A and EPM2B gene. -Demonstration of Lafora bodies within the apocrine sweat gland of the skin is seen by an axillary skin biopsy examination. -Rx: Zonisamide