Danon disease
Danon Disease
Danon Disease (pronounced: /ˈdænɒn/), also known as Lysosomal Glycogen Storage Disease Type IIb, is a rare genetic disorder characterized by the triad of cardiomyopathy, skeletal myopathy, and intellectual disability. The disease was first described by Moris Danon and colleagues in 1981, hence the name.
Etymology
The term "Danon Disease" is derived from the name of the physician Moris Danon, who first described the condition. The disease is also known as Lysosomal Glycogen Storage Disease Type IIb due to its association with the accumulation of glycogen in the lysosomes of cells.
Symptoms
The primary symptoms of Danon Disease include cardiomyopathy, skeletal myopathy, and intellectual disability. Other symptoms may include retinopathy, hepatomegaly, and growth retardation. The severity and onset of symptoms can vary widely among affected individuals.
Causes
Danon Disease is caused by mutations in the LAMP2 gene, which provides instructions for making a protein that is found in the membrane of lysosomes. This mutation leads to the accumulation of glycogen in the lysosomes, causing the various symptoms associated with the disease.
Diagnosis
Diagnosis of Danon Disease is typically based on the presence of the characteristic triad of symptoms, along with genetic testing to identify mutations in the LAMP2 gene. Other diagnostic tests may include electrocardiogram, echocardiogram, and muscle biopsy.
Treatment
There is currently no cure for Danon Disease. Treatment is primarily supportive and may include cardiac transplantation in severe cases of cardiomyopathy. Other treatments may focus on managing symptoms and improving quality of life.
Prognosis
The prognosis for individuals with Danon Disease varies widely and depends on the severity of symptoms and the individual's overall health. Early diagnosis and management of symptoms can improve prognosis and quality of life.
See also
- Glycogen storage disease
- Lysosomal storage disease
- Cardiomyopathy
- Skeletal myopathy
- Intellectual disability
External links
- Medical encyclopedia article on Danon disease
- Wikipedia's article - Danon disease
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