Other Names for this Disease
- Antopol disease
- Glycogen storage cardiomyopathy
- Glycogen storage disease limited to the heart
- Glycogen storage disease type 2b (formerly)
- GSD2B (formerly)
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Men with Danon disease tend to develop cardiomyopathy prior to the age of 20, and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood, however cases of cardiomyopathy in young girls have been reported in the medical literature. Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms.
Learning and development (primarily reported in males, however there has been at least one report of an affected female)
Mild intellectual ability
Attention deficit disorder
Eye and vision
Peripheral pigmentary retinopathy
Abnormal visual fields
Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews.
- Yang Z et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation. 2005;
- Maron BJ et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;
- Danon disease. Online Mendelian Inheritance in Man. March 19, 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300257. Accessed 1/1/2008.