Muscle-Eye-Brain Disease Research Paper
Muscle-Eye-Brain Disease is caused by a mutation of POMGNT1 gene. The gene makes a protein …show more content…
Fetal DNA is obtained from an outgoing pregnancy by “Chronic Villus Sampling.”
Muscle-Eye-Brain Disease affects the patient’s brain. Brain abnormality known as “Cobblestone Lissencephaly or Type 2 Lissencephaly. The brain then develops a bumpy “cobblestone” appearance and lacks the formal structure. There are also other structural changes in the brain. Children who have Muscle-Eye-Brain disease could build up fluid around the brain that could be dangerous because of the amount of pressure.
The disease is not curable. But there are a few treatments that could help with the symptoms. Using medication to control seizures, special eye glasses for patients to help with their vision, and physical occupational therapy to aid in movement. Prognosis for people with Muscle-Eye-Brain Disease depends on their condition and symptoms. Usually it affects their vision leading to severe vision loss. Some develop speech and the ability to walk. But its generally poor because studies show that patients die at a young age, some life expectancy ranges from early childhood of age 6 to old age of