| Descriptor English: | Lafora Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Lafora
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| Descriptor Portuguese: | Doença de Lafora | ||||||
| Descriptor French: | Maladie de Lafora | ||||||
| Entry term(s): |
Epilepsy Progressive Myoclonic 2 Epilepsy, Progressive Myoclonic 2A Epilepsy, Progressive Myoclonic, Lafora Lafora Body Disease Lafora Body Disease, Late Onset Lafora Body Disorder Lafora Myoclonic Epilepsy Lafora Progressive Myoclonic Epilepsy Lafora Progressive Myoclonus Epilepsy Lafora Type Progressive Myoclonic Epilepsy Lafora-Body Disease, Late Onset Late Onset Lafora Body Disease Myoclonic Epilepsy of Lafora Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Progressive Myoclonus Epilepsy, Lafora Type |
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| Tree number(s): |
C10.228.140.490.375.130.650.500 C10.228.140.490.493.063.650.500 C10.574.500.529 C16.320.400.480 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020192 | ||||||
| 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). |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Epilepsies, Myoclonic (1977-1999) Epilepsy (1966-1976) |
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| Public MeSH Note: | 2000; see Epilepsy, Myoclonic 1977-1999 |
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| History Note: | 2000; use Epilepsy, Myoclonic 1977-1999 |
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| Entry Version: | LAFORA DIS |
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| DeCS ID: | 34275 | ||||||
| Unique ID: | D020192 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/03 | ||||||
| Revision Date: | 2017/02/24 |
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Lafora Disease
- Preferred
Lafora Body Disease, Late Onset
- Narrower
| 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). |
| Preferred term | Lafora Disease |
| Entry term(s) |
Epilepsy Progressive Myoclonic 2 Epilepsy, Progressive Myoclonic 2A Epilepsy, Progressive Myoclonic, Lafora Lafora Body Disease Lafora Body Disorder Lafora Myoclonic Epilepsy Lafora Progressive Myoclonic Epilepsy Lafora Progressive Myoclonus Epilepsy Lafora Type Progressive Myoclonic Epilepsy Myoclonic Epilepsy of Lafora Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Progressive Myoclonus Epilepsy, Lafora Type |
| Concept UI |
M0335477 |
| Preferred term | Lafora Body Disease, Late Onset |
| Entry term(s) |
Lafora-Body Disease, Late Onset Late Onset Lafora Body Disease |
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