Danon Disease is a rare, genetic condition

What does this mean for me and my family?

Danon disease is caused by a mutation or deletion of the LAMP2 gene located on the X chromosome can be inherited (or passed down) from parents to their children. If someone in your family is diagnosed with Danon disease, you may have questions about genetic testing for additional members in your family.

What do I do now?

Receiving any new medical diagnosis can be confusing and daunting. 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.

Connect with others in the Danon community:
Danon Disease Support Group

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

Building your care team

Danon disease is a complex, multi-system condition that often requires a team of experts and providers. Meeting with the right specialists can help you to determine what additional testing should be done to help assess, manage and monitor your health. Ideally, you will have a team of specialists to manage your care, which may include the following:

Cardiologist
‍A physician who specializes in diagnosing and treating diseases or conditions of cardiovascular system — the heart and blood vessels.

Electrophysiologist
‍A cardiologist who specializes in the electrical system of the heart and arrhythmias (abnormal heart rhythms), and who can perform procedures such as diagnostic testing (heart monitor, electrocardiogram or EKG), catheter ablation (a procedure that can correct heart rhythm problems), and implantation of devices such as pacemakers and defibrillators.

Gastroenterologist
‍A physician who specializes on the health of the digestive system to diagnose and treat gastrointestinal diseases.

Neuropsychologist
‍A psychologist who can help to diagnose brain disorders, assess cognitive and behavioral functioning and design treatments. He/she may conduct testing with shapes, numbers, math, reading and/or ask questions about home, school and community skills.

Neuromuscular specialist
‍A specialist who can help diagnose and manage muscle issues by testing the brain and muscle function with physical movements. People with Danon disease may participate in a muscle clinic that consists of a physical therapist and occupational therapist.

Ophthalmologist
‍A physician who specializes in the diagnosis and treatment of disorders of the eye, and who can help to diagnose systemic diseases that manifest in eye signs or symptoms.

Psychologist
‍A specialist who studies the mind and behavior to understand mental processes, brain functions, and behavior.

Pulmonologist
‍A physician that specializes in the respiratory system. In Danon disease, a pulmonologist will be a key member of the neuromuscular team to manage lung function and respiratory muscles.

Social worker
‍A licensed professional who can help you navigate additional support needs, such as financial aid, community support, food stamps, transportation to appointments.

Teams working with children may also include physical therapists and/or school personnel.

Questions for your doctor

Any new diagnosis comes with a lot of questions, especially after you get your initial diagnosis.

Through conversations with patients and caregivers, we summarized our list of questions that might be helpful to discuss with your physician, geneticist and/or cardiologist. Please note that this is not comprehensive, but may be useful as a starting point.

  • What does my diagnosis mean for me and my health?
  • How does this affect my family members? Should I get any of them tested for Danon Disease?
  • What other tests do I need? What other specialists should I go see (and when)? Could you refer me to a trusted colleague that specializes in…?
  • What type of care coordination services does your office (group, hospital, health system) provide?
  • How often do I need to have a follow-up appointment?
  • What do I need to look or watch out for? What information do I need to track and how often between visits to help with better management of my care?
  • What does this mean for my kids?
  • What implications does this have if I want to have more kids?