Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects. More detailed information about the symptoms, causes, and treatments of Muscle-eye-brain syndrome is available below.
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Types of Muscle-eye-brain syndrome
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A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects. - (Source - Diseases Database)
Muscle-eye-brain syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Muscle-eye-brain syndrome, or a subtype of Muscle-eye-brain syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Muscle-eye-brain syndrome as a "rare disease".
Source - Orphanet
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