Living with Danon disease
A genetic condition affecting the heart muscle, other muscles, and learning.
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Understanding Danon disease
Signs begin about 15 years earlier in males than in females. Males usually have problems in childhood or adolescence, and females in early adulthood. Heart muscle disease is the most common symptom, occurring in all males and most females. It is often thickened (hypertrophic) or enlarged and weakened (dilated).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Enlarged, weakened heart (dilated cardiomyopathy)
- Intellectual disability
- Weak, floppy muscles
- Unusual walk (gait)
- Sudden stop of heart and breathing (cardiorespiratory arrest)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in LAMP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hypertrophic Cardiomyopathy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Hypertrophic Cardiomyopathy Association, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hypertrophic Cardiomyopathy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LAMP2 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: antopol disease; danon disease, x-linked dominant; glycogen storage disease due to lamp-2 deficiency; glycogen storage disease due to lysosomal associated membrane protein 2 deficiency; glycogen storage disease type iib; glycogenosis due to lamp-2 deficiency
Patient organizations
- Hypertrophic Cardiomyopathy AssociationDanon disease · United States
- Association for Glycogen Storage DiseaseDanon disease · United States
- Danon Disease FoundationDanon disease · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Danon disease.
Explore research for Danon disease
Know Rare supports research in Danon disease. Our nurse team can walk you through it.
For studies Know Rare supports, a member of our nurse team can explain what taking part involves and answer your questions. There's no obligation.
- A phone or email conversation at a time that suits you
- We only use your details to contact you about this request
- The study team confirms eligibility
From families we've supported
I cannot fail to thank them for the support they gave us. It was Know Rare that made the connection that brought us here and changed my daughter's life for the better.
Caregiver of a Rare Disease Child After my son's diagnosis, I had so many questions and didn't know where to turn to for answers... Know Rare provided incredible support by connecting us to the right specialists and local clinical trials.
Caregiver of a Rare Disease Child
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