Dictionary > Danon disease

Danon disease

Definition
noun
A metabolic disorder that is characterized by hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability, and is probably caused by a defective enzyme in the lysosome due a mutation in the gene (LAMP2) located in the X chromosome resulting in the accumulation of glycogen
Supplement
Danon disease is a metabolic disorder characterized by hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It was first described in 1981 by Moris Danon (hence, the name). The gene responsible for the condition was first reported from Mahmoud Ramadan, an Egyptian cardiologist based on genetic analysis of the family members affected by the disease in 2016. Accordingly, the affected individuals had a LAMP2 gene mutation.1 Danon disease is inherited in an X-linked recessive pattern. This means that the male offspring would likely manifest symptoms of Danon disease since he would have only one X chromosome. The female offspring would likely be a carrier of the disease and therefore may not show symptoms.
The fundamental symptoms of the disease are hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.
Abbreviation/Acronym:

  • DD

Variant(s):

  • Danon’s disease
  • Synonym(s):

    • glycogen storage disease Type IIb
    • X-linked vacuolar cardiomyopathy and myopathy

    See also:

  • glycogen
  • Pompe disease
  • Reference(s):

    1 Danon disease. Wikipedia.org. Retrieved from ://en.wikipedia.org/wiki/Danon-disease.


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