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Diseases

Genetic and Rare Diseases Information Center (GARD)

Danon disease


Other Names for this Disease
  • Vacuolar cardiomyopathy and myopathy X-linked
  • X-linked vacuolar cardiomyopathy and myopathy
  • Antopol disease
  • Pseudoglycogenosis 2
  • Glycogen storage disease limited to the heart
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 rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability.[1][2] This condition is a type of lysosomal storage disorder.[3] 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.[1][2][3] Danon disease is inherited in an X-linked dominant pattern. As a result, males tend to be more severely affected than females and develop symptoms at a younger age.[1][2] Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.[2]  
Last updated: 7/12/2016

What are the signs and symptoms of Danon disease?

The symptoms of Danon disease vary from case to case and depend on gender.[2] In general, the condition is characterized by cardiomyopathy, weakening of the skeletal muscles, and intellectual disability. Males usually develop the signs and symptoms of the condition earlier than females and are more severely affected. In males, the symptoms typically present in childhood or adolescence, while females may not have symptoms until early adulthood.[2][1] 

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.[2][1] 

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.[2][1]

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.[2][1] 

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.[2][1]

Last updated: 7/12/2016

What causes Danon disease?

Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for “lysosomal-associated membrane protein 2.”[4][5][3]
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 Danon disease be treated?

Treatment is aimed at addressing the symptoms present in each individual. This may require a team of specialists in addition to the primary care physician, including a cardiologist, neurologist, ophthalmologist, geneticist, genetic counselor, rehabilitation physician, educational specialist, and physical therapist. Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Medications for heart disease may be a first line of treatment. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). Assessment of muscle strength should be performed regularly. Physical therapy may help maintain muscle strength and flexibility. Males with intellectual disabilities should receive appropriate educational interventions.[2]  
Last updated: 7/12/2016

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
Other Names for this Disease
  • Vacuolar cardiomyopathy and myopathy X-linked
  • X-linked vacuolar cardiomyopathy and myopathy
  • Antopol disease
  • Pseudoglycogenosis 2
  • Glycogen storage disease limited to the heart
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.