Lafora disease
Lafora disease (pronounced: la-FO-ra disease) is a rare, inherited, severe form of progressive myoclonus epilepsy that typically begins in late childhood or adolescence.
Etymology
The disease is named after the Spanish neuropathologist Gonzalo Rodríguez Lafora who first described the condition in 1911.
Definition
Lafora disease is characterized by seizures, rapidly progressive decline in cognitive function, loss of memory, visual hallucinations, speech difficulties, ataxia (lack of muscle control), and myoclonus (rapid, involuntary jerking of a muscle or group of muscles). The disease is caused by mutations in the EPM2A or NHLRC1 gene and is inherited in an autosomal recessive manner.
Symptoms
The initial symptoms of Lafora disease often include epileptic seizures, which can be tonic-clonic, absence, or myoclonic. As the disease progresses, individuals may experience a rapid decline in intellectual function, behavioral changes, and dementia. Other symptoms can include difficulty walking, muscle spasms, and dysarthria (difficulty speaking).
Diagnosis
Diagnosis of Lafora disease is based on the presence of characteristic clinical features and confirmed by genetic testing showing mutations in either the EPM2A or NHLRC1 gene.
Treatment
There is currently no cure for Lafora disease. Treatment is symptomatic and supportive, focusing on managing seizures and other neurological symptoms.
Prognosis
The prognosis for individuals with Lafora disease is poor. Most individuals with the disease do not survive past their mid-20s due to the progressive neurological deterioration.
See also
External links
- Medical encyclopedia article on Lafora disease
- Wikipedia's article - Lafora disease
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