The Huntington disease

Dec 19, 2007 12:21 GMT  ·  By

It starts with slight changes of personality and behavior but they gradually begin to be more and more severe. The symptoms include mood swings, irritability, depression and violent rage seizures. The patients can experience involuntary body spasms, hands and feet instability. The coordination ability decreases and the patient turns increasingly clumsy. The speech turns inarticulate. Swallowing becomes difficult and memory and focusing capacity turn weaker. Routine tasks, like learning, organization and problem solving, turn impossible.

The rapid development of these symptoms and their aggravation speed vary from person to person, but they are gradual. The symptoms of the Huntington Disease persist and intensify along the years. Working turns impossible and soon the patient will no longer be able to take care of himself/herself. Resigning causes a lot of frustration. After the diagnosis of HD, the patient will live 15-20 years (sometimes longer) and usually death comes from pneumonia, as the patient cannot cough enough to cleanse his/her breathing tract.

The HD is a genetic neural degenerative disease caused by a dominant mutated gene. This means that half the children of an HD patient inherit the disease. And as the symptoms of HD manifest around the age of 30-50, many patients already have children when diagnosed. The name of the disease comes from its discoverer, New York doctor George Huntington who described its symptoms in 1872.

Drugs cannot stop this disease, as it is genetic, but they can improve the quality of life, like drugs against spasms or depression. HD affects about 1 in 10,000 people of Western European descent and 1 in 1,000,000 of Asian and African descent. HD is one of the first genetic disorders for which an accurate test was developed.

The mutation causing HD affects the Huntingtin (Htt) protein. The mutated protein causes the death of the cells in some areas of the brain, which explains the symptoms.