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Detailed information of UNVERRICHT-LUNDBORG DISEASE
UNVERRICHT-LUNDBORG DISEASE
DEFINITION:
A neurodegenerative disorder characterized by myoclonic seizures,
tonic-clonic seizures, and progressive neurologic dysfunction
(ataxia and mild dementia).
EPIDEMIOLOGY:
- incidence: 1/20,000 in Finland, rare, but most common cause of
Progressive Myoclonus Epilepsy in North America
- age of onset:
- 8 to 13 years of age with mean of 10.3 years
- risk factors:
- familial - autosomal recessive
- M = F
- Scandinavian Countries ("Baltic" Myoclonus)
PATHOGENESIS:
- classified as one of the 5 major conditions that account for
the majority of cases of "Progressive Myoclonus Epilepsies"
- etiology unknown
CLINICAL FEATURES:
- severe and continuous
- triggered by movement, stress, sensory stimuli (light,
noise, touch)
- typically, repetitive morning myoclonic seizures build
up and culminate in a tonic-clonic seizure
- patients have developed normally up until onset
2. Tonic-Clonic Seizures
- myoclonic and tonic-clonic seizures are present in all
patients initially
3. Other
- absences and drop attacks are present in a minority
2. Later
- also dysarthria and intention tremor
2. Dementia
- mild with a drop of 1 IQ point per year
- all symptoms progress at a variable rate with periods of
stabilization and death is usually not until adulthood
INVESTIGATIONS:
- widespread degenerative changes
2. Electrodiagnostic Studies
- EEG - seizure activity
- EMG - chronic denervation
- Evoked Potentials - slowed/delayed
- Nerve Conduction Velocities - slowed
MANAGEMENT:
- no treatment available for ULD
- multidisciplinary approach to ongoing problems
- Paediatrics, Neurology, Orthopedics, OT, PT, Ophthalmology
- myoclonic seizures
- valproic acid +/- clonazepam
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Pediatric Database - UNVERRICHT-LUNDBORG DISEASE
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