Meaning of Huntington’s Disease

Huntington’s Disease or Huntington’s Disease It is a genetic disease that causes nerve cells in the brain to deteriorate and affect the functioning of the body, including thinking. movement and may cause patients to have psychiatric problems. The symptoms will get progressively worse and may cause the patient to die within 20 years. Doctors may prescribe medicine along with various types of therapy to control the symptoms of the disease. However, such treatment cannot prevent deterioration. of the body, mind, and behavior that may be caused by this disease.

Symptoms of Huntington’s Disease

Symptoms of Huntington’s Disease can affect a patient’s movement, behavior or mental health. This disease usually shows symptoms around 30-50 years of age, but sometimes it can occur earlier than that. The symptoms will gradually get worse after the onset of the disease. The patient will have different symptoms according to the stage of the disease as follows:

Initially, the early symptoms of Huntington’s disease are mild. The patient may need a little help from others but can still perform various daily activities such as working or driving. Examples of symptoms that occur in the early stages of Huntington’s Disease are as follows:

• Can’t concentrate much or have problems with thinking, such as forgetfulness
• The internal organs of the body do not work together as well as they should, causing you to stumble or be clumsier than usual.
• Move slowly or have joint stiffness
• There are symptoms of restlessness that the patient cannot control.
• Mood changes, such as being easily irritated or having aggressive behavior, etc.
• Have symptoms of depression, such as feeling hopeless, depressed, or losing interest in various activities, etc.

In the middle period , when the symptoms of the disease progress to a later stage, symptoms may begin to affect daily life more, such as

• Falls may occur.
• Items may fall from your hand while holding it.
• There may be problems with speaking or swallowing.

In the final stages, the patient’s condition becomes progressively worse and may require a nurse or caregiver to be at their side. There are examples of symptoms that may occur in the latter period as follows:

• Existing twitching or restless limbs become more severe.
• Problems with swallowing food that may lead to choking or pneumonia
• Personality changed from before
• Have breathing problems
• Have problems with speaking or may not be able to speak
• Have problems with movement or may not be able to walk

Huntington’s Disease, which occurs in children or teenagers, may develop severe symptoms more quickly than in adults, such as:

• Speech changes
• Being clumsier than usual
• Mild tremors or problems with movement
• Problems with walking, especially in young children
• Having trouble learning new information or forgetting existing skills
• Have a seizure

Causes of Huntington’s Disease

Huntington’s Disease is a disease that can affect both males and females. It is caused by a genetic abnormality that is passed on through defective genes. If a parent carries the defective gene that causes the disease in their body, there is a 50 percent chance that their child will develop Huntington’s disease and can pass the defective gene on to the next generation. However, some patients may. Have Huntington’s disease without a family member having a history of the disease. This may be because family members have never been tested for the disease and are therefore not aware that they already have Huntington’s disease.

Diagnosis of Huntington’s Disease

To initially diagnose Huntington’s Disease, the doctor may perform a general health examination and ask about the patient’s medical history. Including asking the patient if there are any family members with Huntington’s disease. In addition, the doctor may perform additional diagnostic tests as follows:

Check the functioning of the nervous system and brain.

A medical professional will perform tests to check your nervous system function, such as strength, tension, and muscle response. muscle coordination senses such as vision Eye movement, hearing, and sense of touch, etc.

Check brain function

Checking brain function through viewing images can be done in several ways, such as electromagnetic X-rays . or computer tomography, etc., to create a virtual image of the brain This helps doctors see changes in certain areas of the brain that are caused by Huntington’s Disease, although the changes may not be obvious in the early stages of the disease. But this test can reveal other factors that may cause abnormal symptoms as well.

Test your cognitive and cognitive abilities.

Doctors will have patients take standardized tests to assess various brain functions such as memory and intelligence. Dimensional abilities Language skills or using reason, etc.
Mental status assessment

Doctors may have patients undergo certain tests to assess factors that may lead to a diagnosis, such as emotional state. Behavioral patterns quality of decision Coping skills, signs of thought disorders or information indicating drug use, etc.

Check for genetic abnormalities

• If symptoms of Huntington’s disease are severe Doctors may recommend this method to detect defective genes in the patient’s body. Genetic testing can confirm the diagnosis and may be useful in cases where there is no known history of Huntington’s disease in family members or it is not confirmed by genetic testing. come first However, this test may not provide information that will be useful in choosing the appropriate treatment.
• Get tested for genetic abnormalities to plan ahead.
• Also called Predictive Genetic Test, it is a test for genetic abnormalities in people who have a family history of Huntington’s Disease but do not have symptoms or signs of the disease. Some people may be tested using this method to confirm their disease. or check before deciding to have children But this test has no effect on treatment or determining symptoms of the disease.

Treatment of Huntington’s Disease

Currently, doctors cannot cure Huntington’s Disease, they can only treat the symptoms in patients. There are several ways to reduce the severity of some of the symptoms associated with the disease. The details are as follows:

Medication:

Several medications may be used to treat the symptoms of Huntington’s disease, such as medications to relieve muscle spasms. Anti-psychotic drugs Medication to help treat movement disorders Anti-depressants or mood stabilizing drugs, etc. However, these must be prescribed by a doctor only. Because some medicines can cause serious side effects.

Treat with psychotherapy

Treatment by a psychiatrist or related staff may use talking methods to help manage the patient’s behavioral problems. Manage patients’ expectations about their disease. Help prepare a plan to deal with symptoms that may occur. or introduce effective communication between other members of the family.

Treat with Atthatherapy

Speech therapy involves having a speech therapist help improve the patient’s speaking skills and recommend accessories to practice speaking. This may help treat the symptoms of Huntington’s Disease, which affects the control of muscles in the mouth and throat, affecting speaking, swallowing, and eating.

Treat with physical therapy

Physical therapists can teach patients appropriate exercises to improve strength, flexibility, balance, and coordination of various muscles in the body. Exercise can also improve mobility and reduce the risk of falls. Also, if the patient needs to use a mobility device such as a cane or a wheelchair. Your physical therapist may also be able to advise you on how to use it. They may also recommend modifying exercise methods that are appropriate for the patient.

Treat with occupational therapy

Occupational therapists may be able to recommend assistive devices for patients, caregivers, or family members, such as installing grab bars within the home. Install accessories to help with bathing or dressing. Including recommending appropriate eating utensils for patients with limited physical mobility, etc.

In addition to treatment by a doctor Family members, caregivers, and the patient themselves may be able to provide initial care at home in a variety of ways, depending on the patient’s condition.

For example, if the patient is having trouble maintaining a healthy weight. You may need to eat more than 3 meals or take dietary supplements. The patient has problems with chewing food. You may have to choose foods that are easy to swallow or choose eating utensils designed for patients with muscle problems. In addition, in cases where the patient has memory problems or mental problems, You may solve the problem by using a calendar and writing down your schedule to prevent forgetting. Or arrange the environment around the patient to be simple and quiet to prevent stress, etc.

Complications of Huntington’s Disease

People with Huntington’s Disease progressively lose their physical skills. Patients with the final stages of the disease require constant supervision. After that, they may become bedridden patients who cannot speak. But still listen to other people talk and still have awareness of surroundings such as family and friends.

In addition to the above symptoms, Huntington’s disease can also be severe enough to cause death. The patient may die within 10-30 years after symptoms appear. But if Huntington’s disease occurs in children Most patients may live for another 10 years after symptoms appear. The most common causes of death include pneumonia or other forms of infection.

Injuries related to falls or complications related to swallowing food, etc. Patients with Huntington’s disease may also suffer from depression, which increases the risk of suicide. Some research suggests that people with Huntington’s Disease may be at increased risk of suicide in the middle stages of the disease when they begin to lose their independence.

Preventing Huntington’s Disease

People who are at risk of passing Huntington’s Disease to their children should consult a genetics specialist to find preventative measures, which can be done in a number of ways, such as prenatal testing to detect abnormalities in genes, in vitro fertilization using eggs or donor sperm or in vitro fertilization combined with pre-implantation genetic disease diagnosis (Preimplantation Genetic Diagnosis).

This method takes the mother’s eggs from the ovaries and mixes them with sperm in a laboratory. Then check for abnormal genes that cause Huntington’s disease in the embryo. If the gene is not found The doctor will then implant the embryo into the mother’s uterus to conceive.

Additionally, if you observe yourself and feel that your thoughts, emotions, or movements have changed. Or someone who has a family member with Huntington’s disease and would like to know if they have the disease or not. Including someone in your family who has Huntington’s disease and you are pregnant, you should see a doctor for advice or receive appropriate treatment.