National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial visceral myopathy with external ophthalmoplegia



Other Names:
Oculogastrointestinal muscular dystrophy; Muscular dystrophy, oculogastrointestinal; Intestinal pseudoobstruction with external ophthalmoplegia; Oculogastrointestinal muscular dystrophy; Muscular dystrophy, oculogastrointestinal; Intestinal pseudoobstruction with external ophthalmoplegia; Visceral myopathy, familial, with external ophthalmoplegia; Visceral myopathy - familial external ophthalmoplegia See More
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1876

Definition
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
0003270
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
Cachexia
Wasting syndrome
0004326
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Gastroparesis
Delayed gastric emptying
0002578
Intestinal pseudo-obstruction 0004389
Malabsorption
Intestinal malabsorption
0002024
Myopathy
Muscle tissue disease
0003198
Ptosis
Drooping upper eyelid
0000508
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Spontaneous esophageal perforation 0005203
5%-29% of people have these symptoms
Abnormal mitral valve morphology 0001633
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Autosomal recessive inheritance 0000007
Dilatation
Wider than typical opening or gap
0002617
Malnutrition 0004395
Ophthalmoplegia
Eye muscle paralysis
0000602
Peripheral neuropathy 0009830
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • 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 Familial visceral myopathy with external ophthalmoplegia. Click on the link to view a sample search on this topic.

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