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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.

Overview

Muscle eye brain disease is a rare form of congenital muscular dystrophy.[1] Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern.[2] The signs and symptoms of this condition vary among affected individuals, even among members of the same family.[1]
Last updated: 7/21/2009

References

  1. Reed UC. Arquivos de Neuro-Psiquiatria. March 2009; 67:144-168. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038&lng=en&nrm=iso&tlng=en. Accessed 7/21/2009.
  2. Muscle-eye-brain disease. OMIM Database. June 23, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280. Accessed 7/21/2009.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Muscle eye brain disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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.