Dannon Disease Case Study

Danon disease is a genetic disease that is not really known about the world over. The discovery of the disease was in the 1980s, which is fairly recent. The disease was previously known as glycogen storage disease, but it has been since discovered that the problem with this disease was not the inability to store glycogen, but is in the fact a problem with the lysosome within the body cells and that this defect is encoded for in the affected persons ' DNA

Question 1

• A Fluttering sound or pounding in the chest (palpitations).

• Abnormal heart beat (arrhythmia).

• Chest pain.

These symptoms may be an indicator for many conditions, however, there are more specific signs to this including: Muscle disease symptoms such as:

• Muscle weakness

• cardiac pre-excitation, the type that is Wolf-Parlinson-White pattern

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Males develop the symptoms in their teens whereas females develop the symptoms in their late teens. After this, the person begins to have learning difficulties, cardiac problems and muscle weakness. Males at this stage develop either the cardiomyopathy fist, then the other shorty after. Females develop either one or the other. After this stage, there is a risk for arrhythmia or sudden death due to heart failure.

Question 3

So far it has been discovered that all ethnic groups are at risk of Danon disease since it is a rare genetic disease that only 20 families in the world where found to have it. The prevalence could however be estimated at less than 1 in 1000 000.

Question 4

The gene that is involved here is X-linked dominant. Therefore, males experience a more severe case than females as the X chromosome in males is only one, whereas in females there are two X chromosomes. Therefore, in females, there is another one to mask the effects of the one that has the mutation, in males; the one X chromosome is enough to cause disease.

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