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Danon Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Danon Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • GSD IIB
  • Antopol disease
  • glycogen storage cardiomyopathy
  • glycogen storage disease type IIB
  • lysosomal glycogen storage disease without acid maltase deficiency
  • pseudoglycogenosis II
  • vacuolar cardiomyopathy and myopathy, X-linked

Disorder Subdivisions

  • None

General Discussion

Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, as a result of which males are more severely affected than females. Among boys, the key features are diseased heart muscle (cardiomyopathy), weakness of the body muscles (skeletal myopathy) and intellectual disability ranging from mild learning problems to overt intellectual disability. In many males, the disease progresses until a heart transplant is required or death occurs in the second to third decade of life. Females are also affected, although usually more mildly, and often onset is delayed until they reach adulthood. However, some females will progress to being considered for cardiac transplantation during their second decade of life, similar to what is observed in males. Other features include heart arrhythmias, which can lead to a need for medications or a pacemaker, and eye disease affecting the retina; the retinal disease does not always affect vision, especially early in the disease. Danon disease is not usually evident at birth unless blood tests are done in a suspected case (i.e. a son born to a mother known to have the disease).

Resources

Association for Glycogen Storage Disease

P.O. Box 896

Durant, IA 52747

USA

Tel: (563)514-4022

Fax: (563)514-4022

Email: info@agsdus.org

Internet: http://www.agsdus.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Adult Medical Genetics Program, University of Colorado

12700 East 19th Avenue

F442, Room 8022

Aurora, CO 80045

Tel: (303)724-1400

Fax: (303)724-0020

Internet: http://www.uch.edu/conditions/genetics/get-care/ and http://www.danondisease.org



Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Internet: http://www.hideandseek.org



DanonDisease.org

12700 East 19th Avenue

F442, Room 8022

Aurora, CO 80045

Tel: (303)724-1400

Fax: (303)724-0858

Email: matthew.taylor@ucdenver.edu

Internet: http://www.danondisease.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/3/2012

Copyright  2007, 2012 National Organization for Rare Disorders, Inc.

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