What is Muscle-Eye-Brain Disease?
Muscle-eye-brain disease (MEB) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe intellectual and developmental disabilities.
MEB causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.
Eye problems associated with MEB include severe near-sightedness and glaucoma, among others.
Another hallmark of MEB is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present. Children with MEB may have a buildup of fluid around the brain that can create a dangerous amount of pressure.
The severity of symptoms can vary among people with MEB.
How common is Muscle-Eye-Brain Disease?
MEB is very rare, although its exact prevalence is unknown.
How is Muscle-Eye-Brain Disease treated?
There is no successful treatment or cure for MEB. Medical specialists can help treat specific symptoms, such as using medication to control seizures, physical and occupational therapy to aid in movement, and special eye glasses to help make the most of the child's vision.
What is the prognosis for a person with Muscle-Eye-Brain Disease?
The prognosis for a person with MEB varies depending on the severity of the symptoms, but is generally poor. Studies have shown people with MEB typically die between the ages of 6 and 16.