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

  • 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: (563)785-6038
Fax: (563)785-6038
Email: maryc@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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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
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

For a Complete Report

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

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