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Diseases

Genetic and Rare Diseases Information Center (GARD)

Danon disease


Other Names for this Disease
  • Vacuolar cardiomyopathy and myopathy X-linked
  • X-linked vacuolar cardiomyopathy and myopathy
  • Antopol disease
  • Pseudoglycogenosis 2
  • Glycogen storage disease limited to the heart
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Danon disease?

The symptoms of Danon disease vary from case to case and depend on gender.[1] In general, the condition is characterized by cardiomyopathy, weakening of the skeletal muscles, and intellectual disability. Males usually develop the signs and symptoms of the condition earlier than females and are more severely affected. In males, the symptoms typically present in childhood or adolescence, while females may not have symptoms until early adulthood.[1][2] 

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.[1][2] 

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.[1][2]

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 enzyme called creatine kinase (CPK) in their blood, which is an indicator of muscle disease.[1][2] 

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 gastrointestinal disease, breathing problems, and vision abnormalities.[1][2]

Last updated: 7/12/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Danon disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Gait disturbance 90%
Hypertrophic cardiomyopathy 90%
Muscle weakness 90%
Sudden cardiac death 90%
Intellectual disability 70%
Arrhythmia -
Cardiomegaly -
Dilated cardiomyopathy -
Elevated serum creatine phosphokinase -
EMG: myopathic abnormalities -
Exercise intolerance -
Exercise-induced muscle cramps -
Generalized amyotrophy -
Hypokinesia -
Myocardial fibrosis -
Myocardial necrosis -
Pes cavus -
Phenotypic variability -
Proximal muscle weakness -
Visual impairment -
Wolff-Parkinson-White syndrome -
X-linked dominant inheritance -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Taylor MRG, D'souza R. Danon disease. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/danon-disease/.
  2. Danon disease. Genetics Home Reference (GHR). March 2015; https://ghr.nlm.nih.gov/condition/danon-disease.


Other Names for this Disease
  • Vacuolar cardiomyopathy and myopathy X-linked
  • X-linked vacuolar cardiomyopathy and myopathy
  • Antopol disease
  • Pseudoglycogenosis 2
  • Glycogen storage disease limited to the heart
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.