Muscle eye brain disease
Other Names for this Disease
- Muscle-eye-brain disease
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- Congenital muscular dystrophy due to dystroglycanopathy
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congenital muscular dystrophy. 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. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Muscle eye brain disease is a rare form of
Last updated: 7/21/2009
- 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.
- Muscle-eye-brain disease. OMIM Database. June 23, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280. Accessed 7/21/2009.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct;41(10):e115.