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.
Glycogen Storage Disease Type IIB
Vacuolar Cardiomyopathy and Myopathy, X-linked
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency
Pompe Disease II
Glycogen Storage Cardiomyopathy
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 mental retardation. 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. 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. 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).
Association for Glycogen Storage Disease P.O. Box 896 Durant, IA 52747 USA Tel: (563)514-4022 Fax: (563)785-6038 Email: email@example.com 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 12635 East Montview Blvd., Suite 100 Aurora, CO 80045 Tel: (303)724-1400 Fax: (303)724-0020 Email: firstname.lastname@example.org Internet: 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: email@example.com Internet: http://www.hideandseek.org
DanonDisease.org 12700 East 19th Avenue Mailstop F442, Room 8022 Aurora, CO 80045 Tel: (303)724-1400 Fax: (303)724-0858 Email: firstname.lastname@example.org 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 email@example.com
Last Updated: 3/15/2007 Copyright 2007 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.