Muscle-eye-brain disease (MEB) is a type of muscular dystrophy that begins at birth. It is reported mostly in patients from Finland, although it has been observed in several other countries. MEB is an inherited condition.
Causes of MEB
MEB is a form of dystroglycanopathy, one in a group of conditions caused by a defect in alpha-dystroglycan, a protein that is vital for the stability of skeletal muscles and migration of nerve cells in the brain during early stages of development.
Mutations in the POMGNT1 gene cause MEB. This gene carries instructions to make the O-linked mannose N-acetylglucosaminyltransferase 1, an enzyme that modifies alpha-dystroglycan to make it functional. Mutations in POMGNT1 result in the production of an inactive form of alpha-dystroglycan.
Symptoms of MEB
MEB is a severe degenerative condition that primarily affects, as the name suggests, skeletal muscles, eyes, and the brain. A characteristic of MEB is severely low muscle tone (hypotonia), causing floppy baby syndrome. Other common symptoms include:
- Severe muscle weakness
- Cognitive disability
- Mental retardation
- Severe developmental delays
- Bumpy brain surface (cobblestone lissencephaly)
- Abnormal facial features
- The build-up of fluid in the brain
- Vision problems such as severe nearsightedness and glaucoma
Treatment of MEB
There currently is no cure for MEB, but the healthcare team may be able to manage it based on symptom severity.
Other MEB information
The symptoms of MEB are very similar to those of other congenital muscular dystrophies, such as Walker–Warburg syndrome and Fukuyama congenital muscular dystrophy, which are all caused due to defects in the modification of alpha-dystroglycan that render it dysfunctional.
These are three distinct congenital muscular dystrophies. But, due to symptom similarity, they often are mistaken as the same condition with different names. MEB is the less severe form of these conditions.
Last updated: Aug. 22, 2019.
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