Concept information
Preferred term
Lafora Disease
Type
-
mesh:Descriptor
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).
Entry terms
- Epilepsy Progressive Myoclonic 2
- Epilepsy, Progressive Myoclonic 2A
- Epilepsy, Progressive Myoclonic, Lafora
- Lafora Body Disease
- Lafora Body Disorder
- Lafora Progressive Myoclonic Epilepsy
- Lafora Progressive Myoclonus Epilepsy
- Lafora Type Progressive Myoclonic Epilepsy
- Myoclonic Epilepsy of Lafora
- Progressive Myoclonic Epilepsy, Lafora
- Progressive Myoclonic Epilepsy, Lafora Type
- Progressive Myoclonic Epilepsy Type 2
- Progressive Myoclonus Epilepsy, Lafora Type
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- congenital (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Épilepsie myoclonique progressive de Lafora
-
Myoclonie épileptique progressive de Lafora
URI
http://data.loterre.fr/ark:/67375/JVR-F7NL189Z-W
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