Muscle-eye-brain disease (MEB) is a type of congenital muscular dystrophy — a group of disorders characterized by muscle weakness and wasting from very early in life.

MEB can cause many symptoms. They are summarized here.

Muscle weakness

Infants born with MEB exhibit muscle weakness (hypotonia) as soon as they are born, though some may already have decreased movement in the womb.  These infants may seem “floppy” and unable to control their movement. Because of the muscle weakness, patients with MEB are slow to meet developmental milestones such as sitting up, crawling, and walking. For some patients, these are the only symptoms of the disease, but most also experience vision impairment and severe mental disability.

Eye problems

MEB causes severe nearsightedness (also called myopia) as well as glaucoma (increased pressure in the eye). Glaucoma can cause damage to the optic nerve, which if left untreated can lead to blindness. Infants generally have problems focusing on and following objects with their eyes.

Eye symptoms may be useful in distinguishing MEB from other types of congenital muscular dystrophy that do not cause eye problems.

Brain abnormalities

MEB causes brain abnormalities in most patients; this results in developmental delay and intellectual disability. MEB may also cause hydrocephalus (a buildup of fluid in the brain) and distinctive facial features such as a high, prominent forehead and narrow temples.

 

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 health provider 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.

 

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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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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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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