Newly Diagnosed You were just diagnosed with Danon

Now what?

The news might feel overwhelming, but understanding more about Danon can help you navigate this challenging journey.

What is Danon Disease?

Danon Disease is a rare, genetic condition characterized by a mutation or deletion of the LAMP2 (lysosome-associated membrane protein) gene located on the X chromosome. It can be either inherited from a parent with the condition or a new genetic change (‘de novo’).

Danon Disease was first described almost 30 years ago. While over 160 mutations have been identified in the LAMP2 gene, Danon Disease is still not well understood, and more research is needed to improve both diagnosis and treatment.

Danon Disease is a rare, lysosomal storage disorder caused by a genetic mutation or deletion that affects the production of the LAMP2 protein

Individuals with Danon are missing instructions from their DNA that are needed for the body to make the LAMP2 protein, which plays a role in the cellular recycling system. Lysosomes cannot function properly without the LAMP2 protein and are unable to break down this unneeded material which accumulates in body’s cells and causes symptoms, including cardiomyopathy, muscle weakness, intellectual disabilities, eye disease, and others.

What symptoms are common in Danon Disease?

Symptoms and other features may include

Cardiomyopathy, or heart muscle disease

Skeletal muscle myopathy or muscle weakness

Intellectual disability

Eye disease that can affect the retina and vision

Lung and liver involvement

Wolff-Parkinson-White (WPW) syndrome, a heart arrhythmia

What do I do now?

Receiving any new medical diagnosis can be confusing and scary. Danon Disease is a rare condition—start by finding a trusted physician who can help you navigate your new diagnosis.

Get a referral

If you are diagnosed through your primary care physician, it may be helpful to get a referral for a cardiologist and/or genetic counselor, ideally someone who has experience with managing Danon Disease.

Danon Disease is rare, so if there are no experts in your area, consider reaching out to one of the Danon experts.

Ask questions

We have a compiled a list of initial questions on our website as you navigate your new diagnosis.

Discuss your questions about your Danon diagnosis with a trusted physician or genetic counselor. Our printable guide may help during your initial visits with your providers.

Reach out for support.

Being told you or your loved one has Danon Disease can be overwhelming and intimidating. Know that you are not alone, and there is a community of people living throughout the country and globally.

Visit the Facebook Support Groups to connect with others in the community living with Danon Disease.

Danon Disease Support Group
Danon Disease Advocacy, Support & Education

You can also reach out to us at: contact@danonfoundation.org.

How is Danon Disease treated?

Current treatments and interventions for Danon Disease address the symptoms and often require a team of specialists.

Your care team may include some or all of the following specialists: cardiologist, neurologist, ophthalmologist, geneticist, genetic counselor, rehabilitation physician, educational specialist, and physical therapist.

We have additional information on our website on which specialists may be helpful in managing your symptoms. There is currently no FDA-approved therapy known to cure the underlying issues caused by Danon Disease and the LAMP2 protein deficiency.