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Huntington's diseaseHuntington's disease is a genetic disorder that causes the destruction of certain brain neurons. The patient cannot control its movements, resembling a dance, and ends up developing dementia.
What is Huntington's disease?Known as Huntington's disease (HD) a type of movement disorder that stems from a problem in an area of the brain called the basal ganglia; in particular, in the area known as the caudate. Neurons that govern this part of the brain begin to destroy your own programmed genetically; i.e., our own inheritance dictates that these neurons must be destroyed. This causes a decrease in the levels of the neurotransmitter acetylcholine, which contributes to worsening symptoms and favors the onset of dementia in advanced stages of Huntington's disease.
Along with the cerebellum, basal ganglia are the most important structures of our nervous system in movement control. When this area neurons degenerate, the motion control functions are unregulated, resulting in one of the main symptoms of Huntington's disease: the Chorea, or uncontrolled movements and which resemble a dance (dancers), because the involuntary movements are no longer inhibited.
The condition usually starts in the middle ages of life. In later stages, this degeneration begins to become more extensive, affecting other areas; and finally appear dementia.
Causes of the HuntingtonThe Huntington's disease (HD) is developed on the basis of an genetic alteration. One of our chromosomes, in particular chromosome number 4, suffers a mutation in its short arm. Not to be a sex chromosome, both men and women can develop HD, on the basis of genetic inheritance they received from their parents.
To be a dominant gene, it is only necessary that one parent has in its genetic material one copy of the defective gene descendant that has inherited this gene develop Huntington's disease (if it is recessive, both the father and the mother should carry one copy of the gene to appear the disease, but unfortunately this is not the case). Anyone who has inherited a defective gene, will end up developing disease if they live long enough.
So the only hope is that, two copies of each gene with which each parent may provide to the descendants, copy that inherits is the healthy and not the faulty.
Sometimes it may happen that a person who does not have a family history of Huntington's disease develop disease. It's spontaneous cases, in which the gene suffers a sporadic mutation, which leads to the onset of symptoms.
Symptoms of Huntington'sDuring the early stages of the disease, involuntary movements may appear mixed with the intentional; Therefore, it is easy to pass unnoticed in these moments. As a general rule, the effects progress faster the younger is the patient. Thus, a person who begins to have symptoms at 30 years of age will suffer a disease progression more quickly than if the patient begins to develop symptoms at age 50.
Gradually, movements are becoming ever more apparent, until you carry out everyday actions like swallowing, dressing, bathing... become almost impossible.
The main symptoms are movements that involve, but are not the only ones. One of the most frequent, especially in the early stages, are the changes in character. The person is more irritable, aggressive, apathetic, or even depressed.
The also affect cognitive abilities: memory, concentration, reasoning... can be decreased. As Huntington's disease progresses, they begin to observe symptoms of dementia, to decrease the neurotransmitter acetylcholine, which is in charge of the connections between neurons to function perfectly.
Diagnosis of the HuntingtonThe fact of the discovery of the gene containing the mutation that allows the development of Huntington's disease gave way to a diagnostic test in which, looking for the number of times it is repeated that gene in our genetic code (repeats) we can know if we are at risk of developing the disease. It is known as pre-symptomatic Test (TP), so called because it allows to know if the person is likely to develop Huntington's disease on the basis of the family genetic heritage.
Reached a consensus on the number of repetitions that you must have to know the risk that's suffering Huntington's disease. Like this:
- Less than 28 repetitions: is very unlikely to develop.
- 29-34: it is very unlikely to develop, but the offspring will be at risk of developing it.
- Of 35 to 39: many patients develop the disease; and the next generation will be at risk.
- 40: is very likely that the person develops symptoms of HD.
The family history is also highly important. The neurologist will perform a series of questions aimed to know the family history in relation to the possibility that a parent may have been carrying the gene for Huntington's disease, or have suffered the disease without being diagnosed as such.
Where to go to perform pre-symptomatic testing?Anyone with a family history of Huntington's disease can take the decision to carry out the test, and thus know the risk which has developed symptoms. To do so, by contacting with the Korea Association of Huntington Spanish (www.e-huntington.org), or its regional offices, will indicate where to go to perform the test.
The test itself includes several stages: a neurological test, where the doctor trying to find out if the symptoms have already begun; a blood test that is sent to a Genetics laboratory to evaluate the appearance of the defective gene and count the repetitions of the same (what is known as genetic counselling); and an advice from a social worker before, during, and after the results.
Treatment of Huntington'sHuntington's disease has no cure, but many medications can be used to decrease the severity of symptoms and to try, to the extent possible, facilitate the life of the patient and caregivers.
Some of these medications used for the treatment of Huntington's are primarily dopamine, such as antipsychotics (haloperidol or chlorpromazine) antagonists, since the decrease of acetylcholine-producing neurons causes this neurotransmitter level is reduced and increase the effect (which not levels) of dopamine, and thus increase the involuntary movements. These drugs help to the control of the emotional, such as aggressiveness, hallucinations... but not control movements. Indeed, some may even worsen with time, due to a phenomenon of hypersensitivity. They are used to lower doses of which are usually used in psychoses, to try not to engage in sleepiness or catalepsy; but because of the progressive nature of the disease, you will notice a gradual loss of efficiency.
The antidepressants are useful to treat depression; and lithium can help to control variations in mood.
The neurologist is physician responsible for initiating treatment, choosing the drug best suited in each case, taking into account the particular characteristics of each patient, and considering the adverse effects.
Always order information to your doctor or pharmacist if you have any questions about your treatment or any possible adverse effects.
Care of the patient with HuntingtonThe care that requires a patient of Huntington's disease are complicated. The usual work as dressing, put on, eat, take a shower... can become real problems.
Speech may be affected, making very difficult that the patient can express what he thinks. It is advisable to talk to the patient, so don't feel isolated from the environment that surrounds it, and let him understand that he has understood what you mean.
Footwear must be easy to put and remove, and fasten the foot properly.
The diet should be balanced, with five meals a day; many patients may need one intake greater than normal food, due to wear and tear involved in continuous motion. And however, it is possible to observe that do not catch weight.
There are many associations and organizations struggling to advance in the knowledge of this disease. Investigations are complicated and it makes the progress slow. In Spain, Huntington's disease is still fairly unknown, but several Spanish hospitals genetics services have opened various lines of research in the field of the Huntington in order to advance their knowledge and treatment.