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Disease Profile

Oculomotor apraxia Cogan type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

H51.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital oculomotor apraxia; Cogan's syndrome type 2; Saccade initiation failure congenital;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Oculomotor apraxia Cogan type (COMA) is an eye condition characterized by a defect in side-to-side (horizontal) eye movements. Because of this, most patients with COMA have to turn their head in order to follow objects in side gaze. Typically, up-to-down (vertical) eye movements are unaffected.[1][2] Symptoms usually improve throughout the childhood and teenage years.[1] COMA can also be associated with mild developmental delay and speech difficulties. Individuals with COMA may also have kidney disorders and underdevelopment of the part of cerebellum that separates the left and right hemisphere of the brain (cerebellar vermis).[1][3][4] When other symptoms occur, COMA may be a symptom of other disorders, such as nephronophthisis or Joubert syndrome.[3][4] In many instances, the cause of COMA is not known; however, researchers suspect that it is inherited in an autosomal recessive inheritance pattern.[3] Treatment for this condition is focused on managing the signs and symptoms in each individual.

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Horizontal opticokinetic nystagmus
0008026
Jerky head movements
Head jerking
Jerking head movements

[ more ]

0006961
Nephronophthisis
0000090
Oculomotor apraxia
0000657

Treatment

Unfortunately, there is no cure for COMA. Treatment is focused on managing symptoms. Specialists that may be involved in the care of an individual with COMA include a nephrologist (kidney specialist), ophthalmologist (eye doctor), geneticist, and neurologist.[1][2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    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.

    Where to Start

      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. 
        Online Mendelian Inheritance in Man (OMIM)
      • 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 Oculomotor apraxia Cogan type. Click on the link to view a sample search on this topic.

        References

        1. Ocular Motor Apraxia, Cogan Type. National Organization for Rare Disorders (NORD). 2005; https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/.
        2. Oculomotor Apraxia. American Association for Pediatric Ophthalmology and Strabismus. 4/2016; https://aapos.org/terms/conditions/138.
        3. Wente S, Schröder S, Buckard J, et al. Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. Orphanet Journal of Rare Diseases. 2016; 11:104. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966602/.
        4. Stokman M, Lilien M, Knoers N. Nephronophthisis. GeneReviews. June 23, 2016; https://www.ncbi.nlm.nih.gov/books/NBK368475/.

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