- 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 Danon disease be treated?
- Does heart transplant cure the heart complications associated with Danon disease?
Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most (90%) affected men have hypertrophic cardiomyopathy, which causes the heart muscle to become thicker and more rigid than normal. A smaller number (10%) have dilated cardiomyopathy, which weakens and enlarges the heart. Both of these conditions affect the heart's ability to efficiently pump blood through the body and can cause serious complications, including heart failure and premature death. Many women with Danon disease also develop cardiomyopathy. Of these women, about half develop hypertrophic cardiomyopathy and the other half develop dilated cardiomyopathy.
People with Danon disease may also have other heart-related signs and symptoms, including a fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals also have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). The most common conduction abnormality seen in individuals with Danon disease is Wolff-Parkinson-White syndrome.
Most men and about half of women with Danon disease also have skeletal myopathy. The muscles most often affected are those in the back, upper arms, shoulders, neck, and thighs. Many men also have elevated levels of an enzyme called creatine kinase (CPK) in their blood, which is an indicator of muscle disease.
Most men with Danon disease also have mild intellectual disability. In contrast, women tend to have normal intellectual development. Less common signs and symptoms may also be present, including gastrointestinal disease, breathing problems, and vision abnormalities.
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. Genetics Home Reference (GHR). March 2015; https://ghr.nlm.nih.gov/condition/danon-disease.
- Taylor MRG, D'souza R. Danon disease. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/danon-disease/.
- 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;