What are Lafora bodies?
The Lafora bodies are the purple blobs in the neurons. Lafora disease is the most severe form of human epilepsy. It is an inherited myoclonus epilepsy syndrome. Most cases of Lafora disease are caused by mutations in one of two known genes: EMP2A and EMP2B. Both genes are located in chromosome 6.
How is Lafora diagnosed?
Lafora Disease is diagnosed by conducting a series of tests by a neurologist, epileptologist (person who specializes in epilepsy), or geneticist. To confirm the diagnosis, an EEG, MRI, and genetic testing are needed. A biopsy may be necessary as well to detect and confirm the presence of Lafora bodies in the skin.
Can myoclonic seizures cause brain damage?
These conditions typically begin with symptoms of low energy and myopathy (muscle disease), but they can also cause encephalopathy, or brain dysfunction.
What is Lundborg Unverricht?
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time.
What causes Sialidosis?
Sialidosis is caused by mutations of the NEU1 gene. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
What does Laforin do in the body?
Laforin and malin likely play a critical role in regulating the production of a complex sugar called glycogen. Glycogen is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel.
How serious are myoclonic seizures?
During a myoclonic seizure, you may have decreased voluntary movements of your body and a diminished level of consciousness. Myoclonic seizures don’t usually cause a complete loss of consciousness or severe shaking or jerking the way a generalized tonic-clonic seizure does.
What is the difference between clonus and myoclonus?
Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching (different from clonus, which is rhythmic/ regular) of a muscle or a group of muscles.