Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Unverricht-Lundborg syndrome (DOID:3535)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (2) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 
Canavan disease  
Cerebrocortical Degeneration of Infancy 
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
dentatorubral-pallidoluysian atrophy  
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
MERRF Syndrome +   
Microphthalmia, Syndromic 10 
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
Neurogenic Scapuloperoneal Syndrome, Kaeser Type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Myoclonic Epilepsy 2B  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 7  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
spinal muscular atrophy with progressive myoclonic epilepsy  
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Autosomal Dominant  
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Autosomal Dominant  
Spongiform Encephalopathy with Neuropsychiatric Features  
survival motor neuron spinal muscular atrophy +   
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
Wilson disease +   

Synonyms
Exact Synonyms: Baltic Myoclonus ;   Baltic Myoclonus Epilepsy ;   Baltic myoclonic epilepsies ;   Baltic myoclonic epilepsy ;   Baltic myoclonus epilepsies ;   EPM1 ;   Epilepsy, Progressive Myoclonic 1 ;   Epilepsy, Progressive Myoclonic Type 1 ;   Mediterranean Myoclonic Epilepsy ;   Myoclonic Epilepsy of Unverricht and Lundborg ;   Myoclonus Progressive Epilepsy of Unverricht and Lundborg ;   Progressive Myoclonus Epilepsy 1 ;   Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy ;   ULD ;   Unverricht Lundborg disease ;   Unverricht disease ;   Unverricht diseases ;   Unverricht's disease
Primary IDs: MESH:D020194
Alternate IDs: OMIM:254800 ;   RDO:0001530
Xrefs: GARD:3876
Definition Sources: MESH:D020194, https://www.ncbi.nlm.nih.gov/pubmed/19469843

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.