How common is Danon disease?

How common is Danon disease?

At present, it is thought that Danon disease can affect all ethnic populations. The prevalence of Danon disease is unknown, but may be rising due to increased detection from wider availability of LAMP2 gene testing. Histories of affected patients at birth are usually normal.

How does Danon disease affect people?

Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy ); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected.

Is Danon disease fatal?

Danon Disease affects males more frequently than females. Untreated, the condition is fatal. Among males, the condition often results in a defective heart, weakening of muscles in the body, and mild to severe intellectual disabilities. A heart transplant is usually needed during childhood or early adolescence.

Is there a cure for Danon disease?

Danon disease, a rare genetic disorder is often misdiagnosed as heart failure. The disease weakens the heart and skeletal muscles, and a transplant is currently the only treatment available.

Is Danon disease a lysosomal storage disorder?

Danon disease is a rare genetic condition characterized by weakening of the heart muscle ( cardiomyopathy ), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability . This condition is a type of lysosomal storage disorder.

Who discovered Danon disease?

History. Danon disease was characterized by Moris Danon in 1981. Dr. Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual disability.

How many people are affected by Barth syndrome?

Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.

What is the genetic cause of Barth syndrome?

Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4. 5) which leads to decreased production of an enzyme required to produce cardiolipin.

Is Barth syndrome life threatening?

Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth.