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Haw-River Syndrome

Lifespan

The average lifespan is 30 years, but the condition can appear anytime from birth to mid-adulthood.

The gene involved

Where is this disorder found on?

Haw-River Syndrome is a brain disorder that causes involuntary movements, mental and emotional problems, and a low thinking ability.

This is caused by a mutation in the ATN1 gene. This gene is what provides instructions for making the protein atrophin 1.

The mutation is located on chromosome 12 which causes neuronal loss in several parts of the brain.

Haw-River is inherited in an autosomal dominant pattern which means that one copy of the gene that is altered in each cell is sufficient to cause the disorder. In most of the cases, an affected individual has one parent with this condition.

Genetic tests

There are Molecular Genetics tests and Clinical tests

How common is this disorder?

Symptoms

Haw-River is most common in the Japanese population, with an estimated amount of 2 to 7 per million people. This has also been seen in North America and Europe.

The symptoms differ from child to adult.

When this occurs before age 20, it most often involves episodes of twitching, seizures, intellectual disability, problems with balance, and behavioral changes. After age 20, the most common signs and symptoms are uncontrollable movements of the limbs, delusions, and deterioration of intellectual function.

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