Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Vacuolar cardiomyopathy and myopathy X-linked; X-linked vacuolar cardiomyopathy and myopathy; Antopol disease;
Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;
Danon disease is a rare genetic condition characterized by weakening of the heart muscle (
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.
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.
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
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
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Stretched and thinned heart muscle
[ more ]
Enlarged and thickened heart muscle
Mental retardation, nonspecific
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
[ more ]
Increased heart size
[ more ]
Abnormality of cognition
[ more ]
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|EMG: myopathic abnormalities||0003458|
Decreased ability to exercise
Inability to exercise
[ more ]
|Exercise-induced muscle cramps||
Exercise-induced muscle cramping
Muscle cramps following exercise
Muscle cramps on exercise
Muscle cramps on exertion
Muscle cramps with exertion
[ more ]
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ]
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ]
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
Loss of eyesight
[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
- Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include X-linked myopathy with excessive autophagia (XMEA) and glycogen storage disease type 2 (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
- MedlinePlus Genetics contains information on Danon disease. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Danon disease. Click on the link to view a sample search on this topic.
- Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman J, Seidman CE. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009 Mar 25;301(12):1253-9.
- Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.Circulation. 2005 Sep 13;112(11):1612-7. Epub 2005 Sep 6.
- Danon disease. Genetics Home Reference (GHR). March 2015; https://ghr.nlm.nih.gov/condition/danon-disease.
- Danon disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/danon-disease/.
- Danon disease. Online Mendelian Inheritance in Man. 2016; https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300257.
- Yang Z et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation. 2005;
- Maron BJ et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;
- Yang Z, Funke BH, Cripe LH, et al. LAMP2 microdeletions in patients with Danon disease. Circulation Cardiovascular genetics. 2010; 3(2):129-137. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895413/.