Danon Disease

Synonyms

• Glycogen Storage Disease Type IIB
• GSD IIB
• Vacuolar Cardiomyopathy and Myopathy, X-linked
• Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency
• Pompe Disease II
• Pseudoglycogenosis II
• Glycogen Storage Cardiomyopathy
• Antopol Disease

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 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).

Resources

Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
USA
Tel: 5637856038
Fax: 5637856038
Email: info@agsd.org.uk
Internet: http://www.agsdus.org

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: matthew.taylor@uchsc.edu
Internet: http://www.uchsc.edu/amgp and http://www.danondisease.org

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:
Copyright 2007 National Organization for Rare Disorders, Inc.