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Disease Lafora Disease

Name Lafora Disease
Synonyms Disease, Lafora | Disease, Lafora Body | Disorder, Lafora Body | Epilepsy Progressive Myoclonic 2 | Epilepsy, Progressive Myoclonic 2A | EPILEPSY, PROGRESSIVE MYOCLONIC, 2A | Epilepsy, Progressive Myoclonic, Lafora | EPM2A | EPM2B, INCLUDED | EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC, 2B, INCLUDED | Lafora Body Disease | Lafora Body Disease, Late Onset | Lafora-Body Disease, Late Onset | Lafora Body Disorder | LAFORA DISEASE | Lafora Myoclonic Epilepsy | Lafora Progressive Myoclonic Epilepsy | Lafora Progressive Myoclonus Epilepsy | Lafora Type Progressive Myoclonic Epilepsy | Late Onset Lafora Body Disease | LBD | MELF | Myoclonic Epilepsy of Lafora | Progressive Myoclonic Epilepsy, Lafora | Progressive Myoclonic Epilepsy, Lafora Type | Progressive Myoclonic Epilepsy Type 2 | Progressive Myoclonus Epilepsy, Lafora Type
Definition 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)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D020192
OMIM® ID 254780
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Epilepsy Has associated chemicals Has associated genes Epilepsies, Myoclonic Has associated chemicals Has associated genes Myoclonic Epilepsies, Progressive Has associated chemicals Has associated genes Lafora Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Lafora Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Lafora Disease Has associated chemicals Has associated genes

Top ↑ Descendants

None.