Causes of Huntington's Disease
Huntington's Disease is a genetic brain disorder. The brain is damaged due to the disease passed from mother and father to the child. The disease usually occurs in the 30s-40s. In people with Huntington's disease, the disease damages nerve cells in the brain and kills them. Not every person with Huntington's disease has the same symptoms.
After research on the disease, the HD gene that causes the ailment was identified in 1993. The HD gene is found in every person, but in people with Huntington's disease, a deformed version of the HD gene is passed from mother or father to child. There is a 50 percent chance that the damaged HD gene found from the mother or father will be passed on to the child and create a disease. Children with juvenile Huntington's disease usually get the disease from their father.
Huntington's Disease Is Rare
Huntington's disease is one of the rare disorders. According to research, Huntington's disease occurs in about 5.7 people out of 100 thousand people in North America. The disease occurs more often in adulthood. Huntington's disease, which occurs in childhood, has a share of between 5-10 percent of all cases of the disease Decisively. Huntigton disease is seen in an estimated 3-7 people per 100 thousand people in European countries. The disease occurs in fewer people in other regions, including those of Chinese, African and Japanese descent. The discomfort occurs in the part of the brain that affects thinking, decision-making and memory. If the mother or father does not have a deformed gene, this problem does not occur in their children.
Everyone who genetically inherits Huntigton disease from their family gets this disease at some stage in their life and the symptoms of Huntington's disease begin to appear. It varies at what age the ailment will appear. Symptoms usually appear at an earlier stage after each transmission of a new generation. Symptoms of Huntington's Disease
The first symptoms of Huntington's disease are symptoms that can be described as involuntary movements, contractions in the style of turning or twisting. These problems occur primarily on the hands and on the person's face. Over time, it appears on the arms, legs and torso. Due to these contractions, it becomes difficult to walk, eat and talk. As the problem progresses, the person becomes unable to meet their daily needs alone.
The symptoms of Huntington's disease are classified into three stages, namely early, middle and late stage.
Early Stage Symptoms: In the early stages of the disease, the symptoms are weak and may not be understood if attention is not paid. A person has difficulty learning new information at the initial stage. There is a problem in the decision mechanism and the person cannot make easy decisions. Some memory loss may be observed. Clumsiness about daily life increases due to contractions. Sleep problems are experienced. These problems are usually in the direction of insomnia. Slowness and unusualness in eye movements attract attention. The person feels tired.
Symptoms of the Middle Stage: With the passing of time, problems begin to become more pronounced in the middle stages of Huntington's disease. The disease causes the person to have problems in their daily routine. The contractions seen at the beginning increase and rotational, curling movements are added, the frequency and level of clumsiness increases accordingly. Due to illness, a person drops things on his hands more often. Beyond the fact that he drops what he has, he also begins to fall, losing his balance. Problems arise with walking and confusion occurs. Memory loss makes itself felt more. Changes in personality structure are observed due to the damage caused to the brain by the disease. Swallowing and breathing difficulties attract attention. Weight loss is observed. Obsessive-compulsive disorder, mania or bipolar disorder problems may occur and the person's anxiety increases. The desire to die can attract attention.
Late Stage Symptoms: Over time, Huntington's disease begins to take over all of a person's abilities. In the late stages of the disease, the ability to speak disappears, he cannot swallow and cannot do his daily activities without support, he becomes unable to continue his life.
Juvenile Huntington's Symptoms: Huntington's disease can cause symptoms in childhood. In this type of case, the disease progresses faster than in adult Huntington's disease. Strangeness, clumsiness in the gait of a child or teenager attracts attention. The person experiences concentration problems, and this causes a significant decrease in school achievement. Tremors and noticeable changes in behavior are observed. How is Huntington's Disease Diagnosed?
The priority in the diagnosis of Huntington's disease is whether this disorder has been detected in the family before. If the presence of this problem in the family is unknown, it is evaluated whether the symptoms that occur in the disease are seen in the person. Your doctor evaluates whether you have the symptoms we mentioned above before the examination. In parallel with the information provided by the patient, tests are performed to measure the state of decision-making, balance, reflexes, muscle strength, November memory, speech, thinking and mood. In particular, the contraction, bending-style involuntary movements, which are the prominent symptoms of Huntington's disease, are reviewed. Then, your doctor will use other methods, such as genetic testing, blood tests, MRI, and computed tomography. After the blood collection procedure, your DNA is checked in the sample taken. Since the disease sometimes cannot be seen in genetic tests, imaging tests are also performed in parallel. Genetic tests may also be requested from family members during the research phase. Huntington's Disease Treatment
There is no cure for Huntington's disease, but there are treatments to alleviate the problems caused by the disease and relieve the patient. Apart from alleviating the symptoms, clinical trials for the disease-causing protein are continuing. The symptoms of Huntington's disease spread to the physical, emotional and mental spheres. For this reason, treatments are applied in different lanes to make it easier to cope with the problems seen in these areas. Physical therapy, psychological support, and antidepressant-style medications can help make a person's life easier. Drug treatments are also applied to relieve convulsive and twisting involuntary movements caused by the disease.
For speech difficulties, speech or language therapy is used. These therapies contribute to the patient's struggle with swallowing difficulties. Exercise is one of the indispensable treatment methods for Huntington's patients. A person's strong diet is also an important factor in Huntington's disease. Solutions such as handrails and support devices can be used to increase the patient's mobility at home and outside. Again, sound-lit lamps and similar technological solutions can be used to increase the effectiveness of the home
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