Muscle-Eye-Brain Disease Research Paper

Muscle-Eye-Brain Disease Muscle-Eye-Brain Disease, also known as “MEB” and “Congenital Muscular Dystrophy.” Muscle-Eye-Brain Disease is a rare disease, discovered in 1977, in Finland, but it's unknown who discovered the disease. Finland has the largest number of Muscle-Eye-Brain disease patience and is rare in many other countries. Muscle-Eye-Brain Disease is an inherited condition, form of muscle weakness is present or develops after birth. The infant then feels floppy in the muscles also in the face. They may also experience muscle jerks or twitches. Symptoms such as: muscle weakness, vision and brain structure abnormality, and severe mental disability.
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