- Concept UI
- M0328685
- Scope Note
- 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).
- Terms
-
Lafora Disease
Preferred Term
Term UI
T014727
Date04/26/1976
LexicalTag
EPO
ThesaurusID
-
Epilepsy, Progressive Myoclonic, Lafora
Term UI
T368853
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Progressive Myoclonic Epilepsy, Lafora Type
Term UI
T368854
Date10/12/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Lafora Body Disease
Term UI
T368855
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Lafora Progressive Myoclonic Epilepsy
Term UI
T368856
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Lafora Type Progressive Myoclonic Epilepsy
Term UI
T368857
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Progressive Myoclonic Epilepsy, Lafora
Term UI
T368858
Date10/12/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Lafora Body Disorder
Term UI
T764287
Date01/15/2010
LexicalTag
EPO
ThesaurusID
-
Myoclonic Epilepsy of Lafora
Term UI
T764288
Date01/15/2010
LexicalTag
EPO
ThesaurusID
-
Epilepsy Progressive Myoclonic 2
Term UI
T764289
Date01/15/2010
LexicalTag
NON
ThesaurusID
-
Lafora Progressive Myoclonus Epilepsy
Term UI
T841858
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Progressive Myoclonic Epilepsy Type 2
Term UI
T841859
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Progressive Myoclonus Epilepsy, Lafora Type
Term UI
T841860
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Epilepsy, Progressive Myoclonic 2A
Term UI
T845653
Date06/14/2013
LexicalTag
NON
ThesaurusID
OMIM (2013)