- Vacuolar cardiomyopathy and myopathy X-linked
- X-linked vacuolar cardiomyopathy and myopathy
- Antopol disease
- Pseudoglycogenosis 2
- Glycogen storage disease limited to the heart
Your QuestionAre there any technologies available that can identify the LAMP2 protein in an embryo that has not yet been implanted? If so how can I find specialty centers that offer this? Also does heart transplant cure the heart complications associated with Danon disease?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
What is Danon disease?
- What are the signs and symptoms of Danon disease?
- What causes Danon disease?
- How is Danon disease inherited?
- Is genetic testing available for Danon disease?
- Can Danon disease be tested for in an embryo prior to implantation?
- How might the cardiomyopathy in Danon disease be treated?
- Does heart transplant cure the heart complications associated with Danon disease?
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.
It may be possible to do preimplantation genetic diagnosis (PGD) for Danon disease. Click here to learn more about reproductive genetic testing including PGD. To learn more about your reproductive genetic testing options we recommend that you speak with a genetics professional. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
* GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you. You can also use GeneTests to locate clinics that offer PGD. Click here to view GeneTests list of clinics (international and domestic) that offer PGD.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
* Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
Matthew Taylor, MD PhD
Online bio: http://www.uchsc.edu/amgp/faculty_and_staff_matt.htm
Click here to view articles by this author.
In addition, the Children’s Cardiomyopathy Foundation has a number of scientific advisory board members that may be able to assist you. We recommend that you contact the Foundation to learn more.
Children's Cardiomyopathy Foundation
P.O. Box 547
Tenafly, New Jersey 07670
Toll-free: 866-808-CURE (2873)
Web site: http://www.childrenscardiomyopathy.org/
- 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.
- 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;