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Genetic and Rare Diseases Information Center (GARD)

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Danon disease


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)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Are 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Danon disease?

Danon disease is a type of lysosomal storage disorder.[1] Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene.[2][3][1] Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.
Last updated: 3/19/2010

What are the signs and symptoms of Danon disease?

Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome.[2][3][1] Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).

Men with Danon disease tend to develop cardiomyopathy prior to the age of 20,[2] and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood,[2] however cases of cardiomyopathy in young girls have been reported in the medical literature.[3][1]  Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms.[2][3][1]

The following additional signs and symptoms are variably present in people with Danon disease:[2][3][1]

Learning and development (primarily reported in males, however there has been at least one report of an affected female)

Mild intellectual ability
Mental retardation
Attention deficit disorder[2]

Skeletal muscle

Exercise intolerance
Muscle weakness

Eye and vision

Peripheral pigmentary retinopathy
Lens changes
Nearsightedness
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.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card

Last updated: 3/19/2010

What causes Danon disease?

Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for “lysosomal-associated membrane protein 2.”[2][3][1]
Last updated: 3/19/2010

How is Danon disease inherited?

Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance.
Last updated: 3/19/2010

Is genetic testing available for Danon disease?

Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.
Last updated: 3/19/2010

Can Danon disease be tested for in an embryo prior to implantation?

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.
http://www.geneclinics.org/

  * 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.
http://www.nsgc.org/resourcelink.asp

  * 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.
http://www.kumc.edu/gec/prof/genecntr.html

Last updated: 3/19/2010

How might the cardiomyopathy in Danon disease be treated?

Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator).[2][3] However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.
Last updated: 3/19/2010

Does heart transplant cure the heart complications associated with Danon disease?

It is not clear from our research if heart transplant is curative for heart complications associated with Danon disease, however we were able to identify the following researcher that may be able to answer this question for you. The Information Center provides the names of researchers for informational purposes only and not as an endorsement of services.

Matthew Taylor, MD PhD
E-mail: matthew.taylor@ucdenver.edu
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)
Fax: 201-227-7016
E-mail: info@childrenscardiomyopathy.org
Web site: http://www.childrenscardiomyopathy.org/

Last updated: 3/19/2010

References
  • 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;
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)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.