What is Huntington’s disease?

Huntington's disease is a degenerative disease, Over time it becomes more difficult to speak, remember and plan, which favors frequent depression in these people.

Family history is very important for diagnosis. The average prevalence is estimated to be between 5 and 10 affected per 100,000 inhabitants, with a worldwide distribution that is equal between both sexes.

 The cause is a excess Huntintin protein in the nervous system. This protein that facilitates communication between neurons does not work well. In 1933 they identified a genetic mutation on chromosome 4 as the origin. Each child has a 50% chance of inheriting it, the same risk for both men and women.

Huntington's disease symptoms

One of the most characteristic features of the disease is exaggerated and uncontrolled movement of the limbs, grimaces and involuntary tics.

For this reason it is also known as; the word Korea comes from the Greek "khoreia", which means a form of dance. A Korean movement is a movement fast, abrupt, irregular, involuntary and quite spacious.

• The muscles in general fail because the neurological stimulus is not correct.
• When the muscles of the legs and trunk fail, patients have balance problems with repetitive falls to the ground.
• The malfunction of the neck muscles causes difficulty in speaking (dysarthria), and frequent choking.
• The affectation of the brain, causes them to have poor memory, insomnia, tremors and involuntary movements.
• The disease ends up being the cause of dementia in patients. Also, it should be said that the suffering brought about by the disease itself and its aftermath favors a depression that can be serious.

The eh affects certain regions of the brain that normally control the planning of tasks for the future so it is common for affected people to need post-its frequently on a day-to-day basis. HD will progressively affect their ability to live independently. It will be more difficult for you to carry out your work, social activities and, in general, those of daily life.

The mean duration of the disease from the onset of symptoms to death is about 15 to 20 years, although symptoms and survival can be highly variable among those affected.

Tests to find Huntington's disease

To establish the diagnosis we rely on the clinical manifestations compatible in an individual with a proven HD parent, and confirmation is through. Each child of a person who carries the HD gene has a 50% chance of inheriting the altered gene.

The genetic techniques available currently allow prenatal testing that can be done in two ways:

• Also called amniotic fluid analysis, usually after the 14th week of pregnancy.
• Analysis of a umbilical cord sample (material from the placenta), which can be done earlier, between the 9th and 12th week of pregnancy but with more risk to the fetus.
• Today there is a technique called (PGD) or embryonic analysis. It is a modern procedure that is performed in combination with the technique of in vitro fertilization (IVF) where embryos are analyzed before to proceed with its implementation. Using this technique, only those who do not have the altered HD gene are implanted, therefore, PGD provides the possibility of conceiving a child without the mutated gene of the disease, regardless of whether the mother or father is the carrier of the mutation.

Is there treatment?

Even if there is no cure for Huntington's disease at the moment, some treatments can control the symptoms of the disease (symptomatic treatments).

Non-drug treatments can improve the physical and psychological symptoms of the disease. We talk about psychotherapy, physical therapy, respiratory therapy, speech therapy or cognitive therapy. These therapies have been shown to improve mood, motor control, speech, balance, or swallowing; in other words, the quality of life of the patient.

Some antipsychotic drugs (neuroleptics) are used to treat hyperkinesias; antidepressants for depression, apathy, and other mood disturbances. Food thickeners to prevent choking.

• One of the most characteristic features of the disease is the exaggerated and uncontrolled movement of the limbs, grimaces and involuntary tics.
• The average duration of the disease from the onset of symptoms to death is about 15 to 20 years, although symptoms and survival can be highly variable among those affected.
• Although there is no cure for HD at this time, some treatments can control the symptoms of the disease (symptomatic treatments).

Family Medicine Specialist

Sports Medicine Specialist