Symptoms and treatment of Huntington's disease

Description

Huntington's disease causes the nerve cells in the brain to deteriorate with the passage of time. The disease affects a person's movements, thinking ability and mental health.

Huntington's disease is rare. It is often transmitted through a mutation from a parent.

Huntington's disease symptoms can develop at any time, but they often begin when people are in their 30's or 40 years. If you develop the disease before 20 years of age, it is called juvenile Huntington's disease. When the Huntington's disease develops early, the symptoms may be different and that the disease may have a more rapid progression.

There are medications available to help manage the symptoms of Huntington's disease. However, the treatments can't prevent the physical, mental and behavioral decline caused by the disease.

Symptoms

Huntington's disease usually causes movement disorders. It also causes mental health problems and problems with thinking and planning. These conditions can cause a wide spectrum of symptoms. The first symptoms vary greatly from person to person. Some of the symptoms seem to be worse or more have a greater effect on functional capacity. These symptoms can vary in severity throughout the course of the disease.

Movement disorders

The movement disorders associated with Huntington's disease may cause movements that you cannot control, called korea. Korea are involuntary movements that affect all the muscles of the body, specifically the arms and legs, the face and tongue. It can also affect the ability to perform voluntary movements. Symptoms may include:

Involuntary jerking or writhing movements.
Stiffness of the muscles or muscle spasm.
Slow or unusual movements of the eyes.
Difficulty walking or maintaining the posture and balance.
Problems with speech or swallowing.

People with Huntington's disease also may not be able to control voluntary movements. This can have a greater impact than the involuntary movements caused by the disease. You have problems with voluntary movements can affect a person's ability to work, perform daily activities, communicate, and remain independent.

Cognitive conditions

Huntington's disease often causes problems with cognitive skills. These symptoms may include:

Problems in organizing, prioritizing or focusing on tasks.
The lack of flexibility or of getting stuck on a thought, behavior, or action, known as perseverance.
Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity.
The lack of awareness of one's own behaviors and abilities.
The slowness in processing thoughts or "finding" words.
Problems in the learning of new information.

Mental health conditions

The most common mental health condition associated with Huntington's disease is depression. This is not simply a reaction to receiving a diagnosis of Huntington's disease. In contrast, the depression seems to occur due to damage to the brain and changes in brain function. Symptoms may include:

Irritability, sadness or apathy.
The Social isolation.
Sleep problems.
Fatigue and loss of energy.
Thoughts of death, dying or suicide.

The symptoms of Huntington's disease

In younger people, the Huntington's disease begins and progresses slightly differently than in adults. The symptoms that can appear early in the course of the disease include:

Behavior changes

Difficulty paying attention.
Sudden drop in school performance.
Behavior problems, such as being aggressive or disruptive.

Physical changes

Contracted and stiff muscles that affect walking, especially in young children.
Slight movements that cannot be controlled, known as tremors.
Frequent falls or clumsiness.
Seizures.

When to see a doctor

Consult your health care professional if you notice changes in your movements, emotional state or mental. The symptoms of Huntington's disease can also be caused by a number of different conditions. Therefore, it is important to get a prompt and complete diagnostic.

Causes

Huntington's disease is caused by a difference of a single gene that is passed down from parents. Huntington's disease follows an autosomal dominant pattern of inheritance. This means that a person needs only one copy of the nontypical gene to develop the disorder.

With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A father with a nontypical gene could pass along the nontypical copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disease.

Risk factors

People who have a parent with Huntington's disease are at risk of having the disease. Children of a parent with Huntington's disease have a 50 percent chance of having the change in the gene that causes Huntington's disease.

Complications

After Huntington's disease is started, the ability of a person to function gradually worsens with time. How quickly the disease gets worse, and how much time it takes varies. The time from the first symptoms to death is often about 10 to 30 years. Juvenile Huntington's disease usually results in death within 10 to 15 years after symptoms develop.

Depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the risk of suicide is greatest prior to a diagnosis and also when a person loses independence.

Finally, a person with Huntington's disease requires assistance with all activities of daily living and care. At the end of the disease, the person will probably be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand the language and is aware that the family and friends, although some are not aware of the members of the family.

The common causes of death are:

Pneumonia or other infections.
Fall-related injuries.
The complications associated with difficulty swallowing.

Prevention

People with a family history of Huntington's disease may be worried about whether you can pass the Huntington's disease gene to their children. You could consider the possibility of genetic testing, and family planning options.

If a risk father is considering the possibility of a genetic test, it can be helpful to meet with a genetic counselor. A genetic counselor explains the potential risks of a positive test result, which may mean that the father may develop the disease. Also, couples may need to make additional choices about whether to have children or to consider alternatives. They can take the decision of choosing the prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Another option for couples is in-vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father's sperm in a laboratory. The embryos are tested for the presence of Huntington's disease. Only those tests negative for Huntington's disease are implanted in the uterus of the mother.

Diagnosis

A preliminary diagnosis of Huntington's disease is based on their answers to questions, a general physical exam and your medical history in the family. Neurological testing, and an evaluation of your mental health can also be made.

Neurological examination

A neurologist asks you questions and performing relatively simple proof of your:

The motor symptoms, such as reflexes, muscle strength and balance.
Sensory symptoms, including the sense of touch, vision and hearing.
Psychiatric symptoms, such as mood and mental state.

Neuropsychological testing

The neurologist can also perform standardized tests to check your:

Memory.
Reasoning.
Mental Agility.
Language skills.
The spatial reasoning.

If necessary, more comprehensive neuropsychological testing may be done by licensed psychologists.

Mental health evaluation

Probably refers to a psychiatrist that you can search for a number of factors that might contribute to its diagnosis, including:

Emotional state.
Patterns of behaviors.
The quality of the trial.
Coping skills.
Signs of a thought disorder.
Evidence of substance abuse.

Brain imaging and function tests

Brain-imaging tests can provide information on the structure or function of the brain. These tests may include a ct or mri scan to show detailed images of the brain.

These images can reveal the changes in the brain in the areas affected by Huntington's disease. These changes do not appear very early in the course of the disease. These tests may also be used to rule out other conditions that may be causing the symptoms.

Genetic counseling and testing

If symptoms suggest the Huntington's disease, the members of your health care team may recommend a genetic test for the nontypical gene.

This test can confirm the diagnosis. The test can also help you if there is a family history of Huntington's disease, or if any other member of the family diagnosis was confirmed with a genetic test. But the test does not provide information that could help determine a treatment plan.

Before undergoing such a test, the genetic counselor explains the benefits and drawbacks of learning the results of the test. The genetic counselor can also answer questions about the patterns of inheritance of Huntington's disease.

Predictive genetic test

A genetic test can be given if you have a family history of the disease, but do not have symptoms. This is called predictive analytics. The test can't tell you when the disease is going to start or what symptoms first appear.

Some people may have the test because they are not knowing to be more stressful. Others may want to take the test before having children.

The risks may include problems with the insurability or the future of employment and the stress of coping with a fatal disease. In principle, there are federal laws that prohibit the use of genetic testing information to discriminate against people with genetic diseases.

These tests are made only after consulting with a genetic counselor.

Treatment

There are No treatments that can alter the course of Huntington's disease. But medicines can decrease some of the symptoms of motion and mental health conditions. And multiple interventions that can help a person adapt to changes in the skills for a certain amount of time.

The medicines you take can change during the course of the disease, depending on your overall treatment goals. In addition, medications that treat some of the symptoms can result in side effects that worsen other symptoms. The goals of treatment are periodically reviewed and updated.

Medications for movement disorders

Medications to treat movement disorders include:

Medications to control the movement of include tetrabenazine (Xenazine), deutetrabenazine (Austedo) and valbenazine (Ingrezza). They have been approved by the Food and Drug Administration to suppress involuntary twitching and writhing movements known as chorea. Chorea can occur as a result of Huntington's disease. These drugs do not affect how the disease progresses, however. Possible side effects include sleepiness, restlessness, and the risk of worsening or triggering of depression or other psychiatric disorders.
Antipsychotic medications, such as haloperidol and fluphenazine, olanzapine (Zyprexa), and aripiprazole (Abilify, Aristada) have a secondary effect of the suppression of the movements. You can, therefore, help to treat the korea. However, these medications can worsen involuntary muscle contractions called dystonia, and the cause of the slowness of the movements, resembling Parkinson's disease. It can also cause restlessness and drowsiness.
Other medications that can help to suppress korea include amantadine (Gocovri), levetiracetam (Keppra, Spritam) and clonazepam (Klonopin). However, soft effectiveness and side-effects that may limit its use.

Medicines for mental health conditions

Medications for the treatment of mental health vary depending on the conditions and symptoms. Possible treatments include:

Antidepressants including citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Prozac) and sertraline (Zoloft). These drugs may also have some effect in obsessive-compulsive disorder symptoms. Side effects may include nausea, diarrhea, drowsiness, and low blood pressure.
Antipsychotic medications such as quetiapine (Seroquel) and olanzapine (Zyprexa) can suppress the outbreaks of violence, agitation, and other symptoms. However, these drugs can cause different disorders of the movement itself.
Mood-stabilizing drugs can help prevent the highs and lows associated with bipolar disorder. These include anti-epileptic drugs, such as divalproex (Depakote), carbamazepine (Tegretol, Carbatrol, Epitol, others) and lamotrigine (Lamictal).

Psychotherapy

A psychotherapist — a psychiatrist, psychologist, or clinical social worker — can provide psychotherapy to help with behavioral symptoms. The psychotherapist can help you and your family to develop coping strategies, to manage expectations as the disease gets worse, and help family members communicate.

Speech therapy

Huntington's disease can affect the control of the muscles of the mouth and throat, which are essential for speech, eating and swallowing. A speech therapist can help to improve your ability to speak clearly or teach you how to use communication devices. A communication device can be as simple as a table covered with photos of everyday objects and activities. Speech therapists can also address problems with feeding and swallowing.

Physical therapy

A physical therapist can teach you correct and safe exercises that improve strength, flexibility, balance and coordination. These exercises can help you maintain mobility as long as possible and can reduce the risk of falls.

Instruction on posture and the use of props to improve posture, can help reduce the movement of the symptoms.

When you need a walker or a wheelchair, the physical therapist can advise you on the correct use of the device and the position. Also, the exercises can be adapted to your level of mobility.

Occupational therapy

An occupational therapist can help you, your family, and caregivers on how to use assistive devices to improve function. These strategies may include:

Handrails in home.
Assistive devices for activities such as bathing and dressing.
Utensils for eating and drinking facilities for people with limited fine motor skills.

Lifestyle and home remedies

The management of Huntington's disease affects the person with the disease, family members and other caregivers in the home. As the disease worsens, the person becomes more dependent on caregivers. Several issues need to be addressed, and ways to deal with them changes over time.

Food and nutrition

Factors related to food and nutrition include the following:

Trouble maintaining a healthy body weight. This can be caused by having problems eating, or by the need to consume more calories because of a physical effort or a metabolic condition. To get enough nutrition, you may need to eat more than three meals a day or the use of dietary supplements.
Problems with chewing, swallowing, and fine motor skills. This can limit the amount of food you eat and increase the risk of suffocation. It can help to remove distractions during meals, and choose foods that are easy to eat. Utensils designed for people with limited fine motor skills cups and cutlery with straw or drinking spouts can also help.

Finally, a person with Huntington's disease, needs help to eat and drink.

The management of cognitive and mental health disorders

Family and caregivers can help to create an environment that can help a person with Huntington's disease to avoid the things that cause you stress. This can help manage cognitive and behavioral symptoms. These strategies include:

The use of calendars and schedules to help you maintain a regular routine.
From tasks with reminders or assistance.
Organization of the work or the activities in order of importance.
Divide tasks into manageable steps.
Creating an environment that is quiet, simple, and structured as possible.
Looking for and the direction out of the stress factors that can cause explosions, irritability, depression, or other symptoms.
For school-age children or adolescents, talking with the staff of the school to develop an individual education plan.
Provide opportunities for the person to maintain social interactions and friendships as much as possible.

Coping and support

A series of strategies that can help people with Huntington's disease and their families face.

Support services

Support services for people with Huntington's disease and the families include the following:

Non-profit agencies, such as the Huntington's Disease Society of the united states, in charge of education. You can also offer referrals to outside services and support groups for people with the disease and their caregivers.
State and local health or social service agencies can provide day care for people with the disease, the food assistance programs or respite for caregivers.

The planning for the residential and end-of-life

Huntington's disease causes a loss of function and, eventually, death. It is important to plan of care that will be needed in the advanced stages of the disease, and near the end of life. The initial discussions about the care that allow the person with Huntington's disease to participate and to share with them what they want from their care.

The creation of legal documents that define the end-of-life care can be useful for all. To empower the person with the disease, and may avoid the disputes between the members of the family as the disease gets worse. The members of your health care team can offer advice on the advantages and disadvantages of the options of care.

The issues that need to be addressed include:

Care facilities. In the nursing home or care in an assisted living facility or a nursing home is needed during the advanced stages of the disease.
The care of hospice. Hospice services provide care at the end of life that helps a person move closer to death, with the least possible discomfort. This care also provides support and education to family members to help them understand the process of death.
Living wills. Wills are legal documents that allow a person to spell the preferences of attention when it is not possible to take decisions. For example, these instructions could tell whether or not the person you want to prolong the life of interventions or aggressive treatment of an infection.
Advance directives. These legal documents that allow you to choose one or more persons to make decisions on your behalf. You can create an advance directive for medical decisions or financial matters.

Preparing for your appointment

If you have any of the symptoms of Huntington's disease, probably refers to a neurologist after a visit to your health care professional.

A review of your symptoms, mental status, medical history, and medical history of the family, may be important to consider when evaluating a possible neurological disorder.

What you can do

Before your appointment, make a list that includes the following:

Symptoms or changes what is normal for you which can be a cause of concern.
The recent changes or stress in your life.
All medicines, including any that are available without a prescription and dietary supplements. Include the dose that you take.
The family history of Huntington's disease or other conditions that can cause movement disorders and / or mental health.

You may want a family member or friend to come with you to your appointment. This person can provide support and offer a different perspective on the effect of symptoms on their functional abilities.

What to expect from your doctor

It is likely to be a series of questions, including the following:

When did you begin experiencing symptoms?
The symptoms been constant or occur off and on?
Has someone in your family has been diagnosed with Huntington's disease?
Has someone in your family has been diagnosed with another disorder of movement and / or mental health?
Are you having problems with completing the work, homework, or daily tasks?
Someone in his family died young?
Does someone in your family in a nursing home?
Does anyone in your family nervous or in motion all the time?
Have you noticed a change in your general mood?
Do you feel sad all the time?
Have you ever thought of suicide?

Symptoms and treatment of Huntington's disease