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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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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