Huntington’s Disease

A health condition that causes the death of nerve cells in the brain is called Huntington’s disease. Over time, it leads to mental health problems, reduced thinking abilities, and movement issues. Huntington’s disease occurs quite rarely and it mostly appears due to an abnormal gene that passes from biological parents to biological children.

People with this condition may experience symptoms at any time but they mostly occur between 30 and 40 years old. Sometimes, they can experience symptoms in their 20s. In such cases, doctors call this condition juvenile Huntington’s disease. Furthermore, when it develops early, there is an increased risk of a faster disease progression.

Fortunately, there are different medications available to lessen the symptoms and improve your quality of life. However, medicines approved for Huntington’s disease treatment cannot prevent or reverse physical, mental, and behavioral problems.

Symptoms

Commonly, this condition causes movement disorders but it may also lead to mental health problems and problems with thinking and planning. However, symptoms caused by this condition vary among people. For instance, some people may experience symptoms that occur to be worse while others have an increased effect on functional ability.

Movement Disorders

Disorders of the movement associated with Huntington’s disease usually lead to uncontrolled movements (also known as chorea). These are involuntary movements that negatively affect the muscles of the entire body (including the arms, legs, face, tongue, and others). Check below some symptoms:

  • Writhing movements
  • Involuntary jerking
  • Muscle contracture or rigidity
  • Abnormal or slow eye movements
  • Walking problems
  • Trouble with swallowing, speech, or keeping posture and balance

Those who experience movement disorders caused by Huntington’s disease often are not able to control voluntary movements, which leads to problems with the ability to work, communicate, go through daily routines, and remain independent.

Cognitive Conditions

Problems with cognitive skills also can occur due to Huntington’s disease. Check below some symptoms:

  • Problems with focusing, prioritizing, or organizing tasks
  • Lack of flexibility or impulse control, or getting stuck on a behavior, action, or thought
  • Learning new information difficult
  • Lack of awareness of own abilities and behavior

Mental Diseases

Depression is the most common mental health problem associated with Huntington’s disease. It usually happens due to brain damage and changes in brain function caused by this disease. Check below some symptoms:

  • Social withdrawal
  • Extreme tiredness
  • Lack of energy
  • Suicide thoughts
  • Irritability
  • Sadness or apathy
  • Sleeping disturbances (insomnia)

However, Huntington’s disease also may cause other mental disorders. These include:

  • Obsessive-compulsive disorder (A mental disorder in which intrusive thoughts continue to return. Repetitive behaviors also are common)
  • Mania (it usually causes increased mood, overactivity, and impulsive behavior)
  • Bipolar disorder

In addition, people with Huntington’s disease experience weight loss, especially when the condition worsens.

Juvenile Huntington’s Disease Symptoms

The symptoms of this Huntington’s disease type appear little different compared to those in adults. Check below some symptoms:

Behavioral

  • Problems with paying attention
  • A sudden decrease in school performance
  • Behavioral problems (including aggression)

Physical

  • Tremors (uncontrolled slight movements)
  • Seizures
  • Clumsiness or frequent falls
  • Rigid or contracted muscles that negatively affect walking

If you or a loved one experiences movement, emotional state, or mental ability changes, do not hesitate to visit a doctor.

Causes

This condition occurs due to a single abnormal gene that passes from biological parents to biological children, meaning Huntington’s disease follows an autosomal dominant inheritance pattern. However, there is an exception of genes on the sex chromosomes that normally a person inherits 2 copies (one copy from each parent). Sometimes, a child may receive one abnormal gene and a healthy one. In such cases, children have 50% of developing this genetic disorder.

The only risk factor for this condition is a family history of Huntington’s disease.

Complications

Over time, the ability to function is reduced in people with this genetic disorder but how fast and long it gets worse varies among people. For instance, the duration between the first symptoms and death fluctuates between 10 and 30 years. However, for people with juvenile Huntington’s disease, the time between the symptoms and death is reduced between 10 to 15 years old.

As per studies, depression caused by this genetic condition significantly increases suicide risk.

Generally, people with this condition need help continuously with all activities, daily living, and care. While some people would not recognize family members, others have an awareness of friends and family and understand language. Check below the most common death causes associated with Huntington’s disease:

  • Injuries often caused by frequent falls
  • Complications associated with swallowing problems
  • Certain infections (including pneumonia)

Is it Possible to Prevent Huntington’s Disease?

Genetic testing usually helps people with a family history of Huntington’s disease to see whether the abnormal gene will pass to their children. Another option is in vitro fertilization and preimplantation genetic diagnosis. During this procedure, the eggs are removed and fertilized with the father’s sperm in the laboratory. Thereafter, the embryos are tested for the Huntington gene and only those without this abnormal gene are implanted in the mother’s uterus.

Diagnosis

First, doctors will ask you certain questions about your symptoms and medical history. However, they also will perform different tests and procedures to confirm the condition. For example:

Neurological Examination

During this procedure, doctors will perform some tests to check for the following symptoms. For example:

  • Motor symptoms (including muscle strength, balance, and reflexes)
  • Sensory symptoms (such as sense of touch, vision, and hearing)
  • Psychiatric symptoms (including mood and mental health)

Neuropsychological Testing

These tests help doctors check you for:

  • Memory
  • Reasoning
  • Mental agility
  • Language skills
  • Spatial reasoning

Mental Health Evaluation

People with Huntington’s disease frequently are referred to a psychiatrist. The following factors may contribute to diagnosis. Examples include:

  • Patterns of behaviors
  • History of substance abuse
  • Symptoms of disordered thinking
  • Coping skills
  • Quality of judgment
  • Emotional state

Imaging Tests

Commonly, doctors perform imaging tests on the brain to check its function and structure. Tests include MRI (magnetic resonance imaging) and CT (computerized tomography).

The images from imaging tests can help determine the brain regions negatively affected by Huntington’s disease and exclude other conditions that may cause similar symptoms.

Genetic Testing

In most cases, genetic testing confirms this condition whether have you a family history of Huntington’s disease or not. The results from this test also help doctors make you the best treatment plan.

Treatment

Unfortunately, there are no treatments available to stop Huntington’s disease progression. Therefore, doctors may recommend treatments for health problems that cause this genetic condition. In most cases, medicines and dosages are changed by doctors because some people may experience some adverse reactions that worsen symptoms. Check below some treatment options usually recommended by doctors:

Movement Disorders Treatment

These include:

  • Medications used to control movement – These include Valbenazine, Tetrabenazine, and Deutetrabenazine. These medicines are approved by the FDA for the treatment of chorea (involuntary jerking and writhing movements). Potential adverse reactions of previous medicines include sleepiness, and restlessness, and may trigger or worsen depression.
  • Antipsychotic medications – In most cases, doctors prescribe Fluphenazine, Olanzapine, Aripiprazole, and Haloperidol. This group of medicines is usually prescribed along with medications that control movements.
  • Other medicines – The following medications also help with chorea. For example Amantadine, Levetiracetam, and Clonazepam.

Mental Health Conditions Treatment

In most cases, physicians prescribe the following medicines depending on your symptoms. For example:

  • Antidepressants – This group of medications is used to lessen the symptoms and improve your quality of life. Examples include Citalopram, Escitalopram, Fluoxetine, and Sertraline. Nausea, diarrhea, drowsiness, and hypotension (low blood pressure) are the potential negative effects that may happen in people who use antidepressants.
  • Antipsychotic medicines – Physicians usually recommend these medicines to suppress violent outbursts, agitation, and others. For example Quetiapine and Olanzapine.
  • Mood-stabilizing medications – These medications are advised by doctors to control bipolar disorder symptoms. For example Divalproex, Carbamazepine, and Lamotrigene.

Psychotherapy

This procedure involves psychotherapists who help with behavioral symptoms. They help you and your family develop overcome strategies as the disease worsens.

Speech Therapy

During this treatment option, doctors help you improve your speaking ability and how to use communication devices. Moreover, they can help lessen problems with swallowing and eating.

Physical Therapy

A physical therapist often teaches safe and proper exercises that help improve flexibility, balance, coordination, and strength. However, if you need a walker or wheelchair, doctors may recommend the proper use of the posture and device. Furthermore, the exercises can be adapted for your mobility level.

Occupational Therapy

During this therapy, therapists can assist you and your family members on how to use devices and improve function. For example:

  • Adapted eating utensils for people with limited fine motor skills
  • Handrails at home
  • Specific devices that help you bathing and dressing

Frequently Asked Questions

What is the survival chance of people with Huntington’s disease?

This condition tends to worsen gradually over time. However, in most cases, people live up to 20 years after diagnosis.

What are the primary Huntington’s disease symptoms?

  • Problems with swallowing, speaking, breathing, and movement
  • Mood and personality changes
  • Involuntary jerking
  • Clumsiness
  • Depression
  • Difficulty concentrating and memory issues

If you or a loved one experiences any of the previous symptoms, immediately contact your healthcare professional.

What are the possible complications of Huntington’s disease?

People with this genetic disorder may experience the following complications. For example:

  • Swallowing problems
  • Memory loss
  • Personality changes
  • Walking difficulties
  • Cognitive decline
  • Malnutrition
  • Hallucination
  • Irritability
  • Chorea
  • Psychiatric issues

If any of the previous complications occur, visit a doctor right away. Ask your healthcare provider if you have additional questions.

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