How old do you have to be to have Lafora disease?
Lafora disease typically begins between ages 12 and 17 years, after a period of apparently normal development. However, there are reports of later onset forms of the condition. In these cases,the affected person often begins showing signs and symptoms of Lafora disease between ages 21 and 28.
What are the signs and symptoms of Lafora disease?
The signs and symptoms of Lafora disease most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia.
How long does it take for Lafora disease to manifest?
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode laforin and malin, respectively.
How many people in the world have Lafora disease?
Lafora disease has been found in more than 250 families throughout the world, resulting from EPM2A gene (responsible for Laforin) and NHLRC1 gene (EPM2B) (responsible for E3 ubiquitin-protein ligase NHLRC1) mutations, and the prevalence seems to be close to four cases per one million persons 6).
Lafora disease typically begins between ages 12 and 17 years, after a period of apparently normal development. However, there are reports of later onset forms of the condition. In these cases,the affected person often begins showing signs and symptoms of Lafora disease between ages 21 and 28.
The signs and symptoms of Lafora disease most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia.
Lafora disease has been found in more than 250 families throughout the world, resulting from EPM2A gene (responsible for Laforin) and NHLRC1 gene (EPM2B) (responsible for E3 ubiquitin-protein ligase NHLRC1) mutations, and the prevalence seems to be close to four cases per one million persons 6).
Is there a cure or treatment for Lafora disease?
Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person 7). For example, certain medications may be recommended to manage generalized seizures. In the advanced stages of the condition, a gastrostomy tube may be placed for feeding.