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Concept
Lafora disease
Summary
Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder.
Lafora disease (LD) was described by the Spanish Neuropathologist Gonzalo Rodríguez Lafora (1886–1971) in 1911, while directing the Neuropathology Section at the Government Hospital for Mental Insane (current NIH, US)
Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. However, Lafora disease has a higher incidence among children and adolescents with ancestry from regions where consanguineous relationships are common, namely the Mediterranean (North Africa, Southern Europe), the Middle East, India, and Pakistan. Dogs can also have the condition. In dogs, Lafora disease can spontaneously occur in any breed, but the Miniature Wire Haired Dachshund, Bassett Hound, and the Beagle are predisposed to LD.
Most human patients with this disease do not live past the age of twenty-five, and it often leads to death within ten years of symptoms appearing. Late onset symptoms of this disease can begin at any age depending on the genes affected. At present, there is no cure for this disease, but there are ways to deal with symptoms through treatments and medications.
Symptoms of Lafora disease begin to develop during the early adolescent years, and symptoms progress as time passes. Prior to this, there is generally no indication of the presence of the disease, though in a few cases, the disease presents as a learning disorder around 5 years of age. In extremely rare cases, symptoms may not show at all until as late as the 3rd decade of life, though these cases have slower progression than typical LD.
Official source
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