Danon

Danon disease is a rare, X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and mental retardation. It was first described by Moris Danon and colleagues in 1981. The disease is caused by mutations in the LAMP2 gene, which encodes the lysosome-associated membrane protein-2.

Symptoms and signs

The symptoms of Danon disease vary among affected individuals. Common symptoms include weakness, fatigue, and shortness of breath. Other symptoms may include chest pain, palpitations, and fainting. In some cases, affected individuals may also have intellectual disability and vision problems.

Genetics

Danon disease is caused by mutations in the LAMP2 gene. This gene provides instructions for making a protein that is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Mutations in the LAMP2 gene disrupt the normal function of lysosomes, leading to the symptoms of Danon disease.

Diagnosis

The diagnosis of Danon disease is based on the presence of characteristic clinical features, a family history of the disease, and genetic testing. Genetic testing can confirm the diagnosis by identifying a mutation in the LAMP2 gene.

Treatment

There is currently no cure for Danon disease. Treatment is aimed at managing the symptoms and may include medications to treat heart problems, physical therapy to improve muscle strength, and special education services for individuals with intellectual disability.

Prognosis

The prognosis for individuals with Danon disease varies. Some individuals have a mild form of the disease and live into adulthood, while others have a more severe form of the disease and may not survive past childhood.

See also

• List of genetic disorders
• Cardiomyopathy
• Lysosomal storage disease

References

Danon Resources
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