What are the signs and symptoms of muscle-eye-brain (MEB) disease?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Mutations in POMT1, POMT2, POMGnT1, FKRP, and LARGE can cause this syndrome. In a series of 92 patients with congenital muscular dystrophy, 14 were found to have muscle-eye-brain disease/Fukuyama congenital muscular dystrophy phenotype. [22] Muscle-eye-brain disease and Fukuyama congenital muscular dystrophy were combined because of the similar phenotypes. In another large series of 81 patients from Italy, the MEB/FKRP phenotype was the most common, present in 54% of patients with CMD and reduced α-dystroglycan staining. One third of patients had a mutation in POMGnT1. [23, 24]

Severely affected patients cannot sit or turn, they lack visual contact, and they often die in the first 1-2 years.

Moderately affected patients can often sit and speak a few words. They may have severe myopia, but they can make visual contact.

Mildly affected patients may be able to walk for a short time, they can speak in sentences, and they have preserved vision.

Seizures are common.

Eye abnormalities are similar but more severe than those of Fukuyama congenital muscular dystrophy. Severe myopia, retinal dysplasia, optic colobomas, hyperplastic primary vitreous, glaucoma, cataracts, and retinal detachment are common.

CNS abnormalities are always present, including moderate-to-severe mental retardation.

Cerebral changes are similar to those of Fukuyama congenital muscular dystrophy but are more variable.

  • Mild changes include only cerebellar cysts, vermal hypoplasia, and flattening of the pons.

  • Severe changes can include type II lissencephaly, pachygyria and/or polymicrogyria/agyria, and a cobblestone appearance on gross inspection. Absent septum pellucidum, absent corpus callosum, and hypoplasia of the pyramidal tract have been reported.

  • Ventricular dilation may be severe and may result in obstructive hydrocephalus and the need for shunt placement.

  • MRI may show evidence of dysmyelination.

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