Muscle-eye-brain disease

Disease Export to PDF
Name:
Muscle-eye-brain disease
Description:
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.
ORPHAcode:
588
Synonyms:
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14