Danon Disease

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Annotated Information

Classification and Resources

ID 128
ICD-10
ICD-9-CM
OMIM OMIM:300257;
SNOMED-CT
Orphanet
MeSH MSH:D052120;
DO

Defination

Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder~Danon disease is associated with heart muscle abnormalities resembling severe hypertrophic cardiomyopathy~

Synonyms

ANTOPOL DISEASE  ; PSEUDOGLYCOGENOSIS II  ;

Etiology

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Diagnosis

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Symptoms

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Treatment

Males~In males the symptoms of Danon Disease are more severe Features of Danon Disease in males are:~An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence)~Some learning problems or mental retardation can be present~The muscle weakness can be severe and can affect endurance and even the ability to walk~The heart disease (cardiomyopathy) can be severe and can lead to a need for medications It usually progress to heart failure, commonly complicated by atrial fibrillation and embolic strokes with severe neurological disability, leading to death unless heart transplant is performed~Problems with the electrical conduction in the heart can occur Sometimes the conduction problem is called Wolff-Parkinson-White syndrome~The symptoms are usually progressive and the boys tend to gradually get worse~Some boys may have problems with their vision or a problem with the pigment in their retinas (in the back of their eyes)~Danon Disease is rare and unfamiliar to most physicians It can be mistaken for other forms of heart disease and/or muscular dystrophies~Females~In females the symptoms of Danon Disease are less severe Common symptoms of Danon Disease in females are:~A later age of onset of symptoms Many females will not have obvious symptoms until late adolescence or even adulthood~Learning problems and mental retardation are usually ABSENT~Muscle weakness is often absent or subtle Some females will tire easily with exercise~Heart muscle disease (cardiomyopathy) is often absent in girls: some women will develop this in adulthood Cardiomyopathy can be associated with atrial fibrillation and embolic strokes~Problems with the electrical conduction in the heart can occur Sometimes the conduction problem is called 'Wolff-Parkinson-White' syndrome~Symptoms in females progress more slowly than in males Heart disease may not be a problem for females until adulthood~Some females will have problems with their vision or a problem with the pigment in the back of their retinas (in the back of their eyes)~Danon Disease is rare and unfamiliar to most physicians The milder and more subtle symptoms in females probably make it harder to diagnose females who have Danon Disease~

Labs working on this disease

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References

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