Lafora disease
Terminal recessive genetic condition / From Wikipedia, the free encyclopedia
Lafora disease is a rare, adult-onset and autosomal recessive[4] 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.[5]: 545 Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder.[6]
Lafora disease | |
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Other names | Lafora progressive myoclonic epilepsy, or MELF[1] |
Specialty | Neurology ![]() |
Usual onset | Late childhood and adolescence, usually ages 8–19 years[2] |
Causes | Mutation in either the EPM2A or EPM2B [NHLRC1] genes[3] |
Differential diagnosis | Other progressive myoclonic epilepsies (sialidosis, myoclonic epilepsy with ragged red fibers, Unverricht-Lundborg disease), Juvenile Myoclonic Epilepsy, Subacute sclerosing panencephalitis, schizophrenia[2] |
Prognosis | Universally fatal; most of the time, death occurs within 10 years after onset of initial symptoms. |
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).[7]
Lafora disease is rare, meaning it is very rare in children, adolescents and adults worldwide. However, it 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.[2] 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 beagle are predisposed.[8]
Most 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.[9] At present, there is no cure for this disease, but there are ways to deal with symptoms through treatments and medications. There are five patient organizations worldwide that share resources and support the Lafora patient community.[10]