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Danon Disease

Abstract

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NORD is very grateful to Matthew R. G. Taylor, MD, PhD, Director, Adult Medical Genetics Program, Colorado Lysosomal Storage Disease Center, University of Colorado, for assistance in the preparation of this report.

Synonyms of Danon Disease

  • Antopol disease
  • glycogen storage cardiomyopathy
  • glycogen storage disease type IIB
  • GSD IIB
  • lysosomal glycogen storage disease without acid maltase deficiency
  • pseudoglycogenosis II
  • vacuolar cardiomyopathy and myopathy, X-linked

Disorder Subdivisions

  • No subdivisions found.

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).

Organizations related to Danon Disease

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