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Diseases

Genetic and Rare Diseases Information Center (GARD)

Muscle eye brain disease


Other Names for this Disease
  • MEB
  • MEB syndrome
  • Muscle-eye-brain disease
  • Muscle-eye-brain syndrome
  • Santavuori congenital muscular dystrophy
Related Diseases
  • Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Congenital muscular dystrophy due to dystroglycanopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Muscle eye brain disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • MEB
  • MEB syndrome
  • Muscle-eye-brain disease
  • Muscle-eye-brain syndrome
  • Santavuori congenital muscular dystrophy
Related Diseases
  • Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Congenital muscular dystrophy due to dystroglycanopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.