MEB can cause many symptoms. They are summarized here.
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.
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.
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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