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Danon Disease

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 www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 04, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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