📂 Diseases
early-onset Lafora body disease — Definition
erken başlangıçlı Lafora cisimcik hastalığı / early-onset Lafora body disease
Early starting Lafora cisimcik disease is a neurodegenerative disease, usually manifested during childhood or puberty, autozomal resessive transition. The disease is characterized by the formation of abnormal glycogen deposits called Lafora cisimcik in brain cells. Clinically transmitted myoklonic epilepsy, seizures, cognitive rectification and motor function loss. The result of mutations in EPM2A or NHLRC1 genes develops and leads to early death by quickly transmitted the disease.
Frequently Asked Questions
❓ What is erken başlangıçlı Lafora cisimcik hastalığı?
erken başlangıçlı Lafora cisimcik hastalığı; early starting Lafora cisimcik disease is a neurodegenerative disease, usually manifested during childhood or puberty, autozomal resessive transition. The disease is characterized by the formation of abnormal glycogen deposits called Lafora cisimcik in brain cells. Clinically transmitted myoklonic epilepsy, seizures, cognitive rectification and motor function loss. The result of mutations in EPM2A or NHLRC1 genes develops and leads to early death by quickly transmitted the disease.
❓ What is early-onset Lafora body disease in Turkish?
The Turkish equivalent of "early-onset Lafora body disease" is erken başlangıçlı Lafora cisimcik hastalığı.
❓ Which medical field is erken başlangıçlı Lafora cisimcik hastalığı related to?
This term belongs to the Diseases category.