LAFORA BODY DISEASE
\lˈafɔːɹə bˈɒdi dɪzˈiːz], \lˈafɔːɹə bˈɒdi dɪzˈiːz], \l_ˈa_f_ɔː_ɹ_ə b_ˈɒ_d_i d_ɪ_z_ˈiː_z]\
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A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
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