A disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body and can lead to heart failure. There are two types of cardiomyopathy that may present in Danon Disease.
Hypertrophic cardiomyopathy is the more common form and occurs when the heart muscle becomes abnormally thick (hypertrophied), making it harder for the heart to pump blood. In dilated cardiomyopathy, the ventricle of the heart stretches and thins (dilates) and is not able to pump blood as well as a healthy heart.
A new mutation (or deletion) in someone’s DNA that is not inherited from either parent. It may also be referred to as a sporadic or spontaneous mutation.
The LAMP2 gene provides instructions for the LAMP2 protein found in the walls of cells, known as lysosomes.
A compartment of the cell that contains digestive enzymes that break down excess or worn-out cell parts. Lysosomes play an important role in the recycling system of cells.
The X chromosome is one of two sex chromosomes. Females have two X chromosomes, while males have one X and one Y chromosome. Egg cells all contain an X chromosome, while sperm cells contain either an X or a Y chromosome.
Sources
- American Psychological Association
- Genetics Home Reference
- Global Genes
- Mayo Clinic
- National Human Genome Research Institute
- National Organization for Rare Disorders
- NIH NCATS Genetic and Rare Diseases Information Center
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