| 单词 | Progressive Myoclonic Epilepsy,Lafora |
| 释义 | Progressive Myoclonic Epilepsy,Lafora《英文msh词典》Progressive Myoclonic Epilepsy,Lafora [入口词] Progressive Myoclonic Epilepsy,Lafora [主题词] Lafora Disease [英文释义] 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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