Unverricht-Lundborg disease (ULD or EPM1) inherited neurodegenerative disorder which often results in a progressive myoclonic epilepsy.
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Epidemiology
Unverricht-Lundborg disease is considered the most common single cause of progressive myoclonic epilepsy worldwide.
Clinical presentation
The clinical presentation typically includes 4:
action myoclonus, which is stimulation-induced
epilepsy with generalized tonic-clonic seizures, often upon awakening or during sleep
Additional clinical features which may occur include 4:
cognitive impairment
other seizure types
psychiatric illnesses
Pathology
Genetics
Unverricht-Lundborg disease carries an autosomal recessive inheritance and is caused by a mutation in the cystatin B gene (CSTB).
Radiographic features
MRI
MRI brain can demonstrate widespread signal alterations in subcortical white matter, the thalamocortical system, and the cerebellum, which result in axonal degeneration and white matter loss. Calvarial thickening may be present 3.
History and etymology
The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1903.
Differential diagnosis
other causes of progressive myoclonic epilepsy
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