Receiving any new medical diagnosis can be confusing and scary. Danon Disease is a rare condition—start by asking the provider who diagnosed you any questions that you may have. It may also be helpful to write down questions as they come up, before, during, or after your conversation, so that you can follow-up.
If possible, ask your provider to refer you to a specialist that has experience with managing Danon Disease. If you are diagnosed by your primary care physician, we suggest that you request a referral for a geneticist and/or cardiologist in your area. Danon Disease is rare, so if there are no experts in your area, consider reaching out to one of the experts.
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.
The Danon Foundation is working to compile additional information and resources for the Danon Disease community and to increase awareness about Danon Disease in the medical community. Please join our mailing list to be notified when we’ve added more information to our site.
You should work with your physician to determine the appropriate course of action and care, but a list of common tests and assessments include:
Blood test
A lab test that uses a sample of blood to check for certain diseases and conditions, including risk factors for heart disease. It can also help check the function of your organs and show how well treatments are working.
Echocardiogram
A test that uses sound waves (ultrasound) to make pictures of your heart.This common test allows your doctor to see your heart beating and pumping blood. Your doctor can use the images to identify heart disease. In a transthoracic echocardiogram, the technician or provider will place gel on an ultrasound wand (transducer) and pass the wand over your chest. If your healthcare provider wants more detailed images, they may ask for additional echocardiograms — you can learn more here.
Electrocardiogram (EKG or ECG)
A test that measures the electrical activity in your heart. With each beat, an electrical impulse (or “wave”) travels through the heart. This wave causes the muscle to squeeze and pump blood from the heart. The test is painless and is done by placing small electrodes (basically sticky pads with wires) on your chest.
Heart monitor
A small, wearable device that keeps track of your heart rhythm and records all of your heartbeats.
Muscle function, strength and weakness
Part of a physical exam that can reveal information about neurologic deficits. It is used to evaluate weakness and can be effective in differentiating weakness from imbalance or poor endurance. Tests may include a walk test, stair test, and/or grip test.
Brain function
An initial evaluation may include a complete medical history and a neurological exam to check for alertness, muscle strength, coordination, reflexes and response to pain. Additionally, your doctor will check your eyes and you may be asked to complete some basic memory tests. Advanced tests (e.g., balance tests, CT scans, neuropsych testing) may also be conducted if the initial exam suggests signs of brain issues.
Cognitive assessment
An evaluation that tests your memory, thinking and concentration, processing speed, language, judgment, reasoning capabilities and the ability to learn new information.
Behavioral assessment
An evaluation of an individual’s behavior using a wide variety of techniques, including direct observation, interviews, and self-monitoring.
Please note this list is not meant to be exhaustive. We recommend that you speak with your physician about the appropriate tests based on your medical background and diagnosis.
Current treatments and interventions address the symptoms caused by Danon Disease and often require a team of specialists. There is no therapy approved by the U.S. Food and Drug Administration (FDA) that is known to cure Danon Disease or slow the underlying issues caused by LAMP2 protein deficiency.
A potential gene therapy is currently being tested in a clinical study. Currently, there are three clinical trial sites in the United States — the University of California San Diego, the Children’s Hospital of Philadelphia, and the University of Colorado. For more information, please visit the Clinical Trials page.
The goal of the Natural History of Danon Disease study is to clearly define the characteristics of Danon Disease in both males and females. The study is led by the University of California San Diego in collaboration with the University of Colorado and affected families. The study is currently enrolling patients — you can learn more on our Clinical Trials page.
Each case of Danon Disease is different and your child may need additional support to help manage day-to-day life and activities. Over time, you may find that your child’s symptoms increase in severity or that the progression of disease accelerates. Because each case is so unique, we suggest you consult your child’s physician for more information about additional therapies and support.
People living with Danon Disease experience varying levels of severity and symptoms. While some individuals will only meet with their care team every six months, others may need to see them more frequently. Each person is different, and we recommend that you work with your care team and physician to identify the appropriate care plan, including frequency of scheduled appointments to monitor and manage your health. It is likely that your providers will ask you to track signs or symptoms regularly and in between visits.
In most schools, a request for special education provisions requires a neuropsychological test to evaluate your child for a learning disability. Requests to the school require a 504 Plan or Individualized Education Program (IEP) meeting to discuss your child’s diagnosis, results and situation in more detail to understand the specific needs of your child. A team at your child’s school may be formed to work with you to complete the 504 or IEP plan. Examples of team members may include: a general education teacher, special education teacher, nurse, mental health counselor, speech teacher, occupational therapist, physical therapist and hearing specialist.
We are committed to providing support for the Danon Disease community. For additional information, please email us at contact@danonfoundation.org.