Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Danon Disease


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

Disorder Subdivisions



    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).

    Organizations related to Danon Disease
    • Adult Medical Genetics Program, University of Colorado
      12635 East Montview Blvd.
      Aurora CO 80045
      Phone #: 303-724-1400
      800 #: N/A
      e-mail: matthew.taylor@uchsc.edu
      Home page: http://www.uchsc.edu/amgp
    • Association for Glycogen Storage Disease
      P.O. Box 896
      Durant IA 52747
      Phone #: 563-785-6038
      800 #: --
      e-mail: maryc@agsdus.org
      Home page: http://www.agsdus.org
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: 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