LAFORA PROGRESSIVE MYOCLONIC EPILEPSY
\lˈafɔːɹə pɹəɡɹˈɛsɪv mˌa͡ɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \lˈafɔːɹə pɹəɡɹˈɛsɪv mˌaɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \l_ˈa_f_ɔː_ɹ_ə p_ɹ_ə_ɡ_ɹ_ˈɛ_s_ɪ_v m_ˌaɪ_ə_k_l_ˈɒ_n_ɪ_k ˈɛ_p_ɪ_l_ˌɛ_p_s_i]\
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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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Nearby Words
- laffite
- lafitte
- lafora body disease
- lafora body disease, late onset
- lafora disease
- Lafora Progressive Myoclonic Epilepsy
- lafora type progressive myoclonic epilepsy
- lafora's disease
- lafordswic
- laft
- lafte