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Definition

What is Huntington’s disease?

Huntington’s disease is an inherited condition that damages certain nerve cells in the brain. This brain damage gets progressively worse over time and can affect movement, cognition (perception, awareness, thinking, judgement) and behavior.

Early features can include personality changes, mood swings, fidgety movements, irritability and altered behavior, although these are often overlooked and attributed to something else.

Huntington’s disease was originally called Huntington’s chorea (“chorea” is the Greek word for dancing). This is because the involuntary movements associated with the condition can look like jerky dancing. However, “disease” is now the preferred term, because the condition involves a lot more than just abnormal movements.

How common is Huntington’s disease?

Huntington’s disease is known as the quintessential family disease because every child of a parent with Huntington’s disease has a 50/50 chance of carrying the faulty gene.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Huntington’s disease?

Huntington’s disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.

Movement disorders

  • Involuntary jerking or writhing movements (chorea)
  • Muscle problems, such as rigidity or muscle contracture (dystonia)
  • Slow or abnormal eye movements
  • Impaired gait, posture and balance
  • Difficulty with the physical production of speech or swallowing
  • Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person’s ability to work, perform daily activities, communicate and remain independent.

Cognitive disorders

  • Difficulty organizing, prioritizing or focusing on tasks
  • Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
  • Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
  • Lack of awareness of one’s own behaviors and abilities
  • Slowness in processing thoughts or ”finding” words
  • Difficulty in learning new information

Psychiatric disorders

  • Feelings of irritability, sadness or apathy
  • Social withdrawal
  • Insomnia
  • Fatigue and loss of energy
  • Frequent thoughts of death, dying or suicide

Symptoms of juvenile Huntington’s disease

  • Loss of previously learned academic or physical skills
  • Rapid, significant drop in overall school performance
  • Behavioral problems
  • Contracted and rigid muscles that affect gait (especially in young children)
  • Changes in fine motor skills that might be noticeable in skills such as handwriting
  • Tremors or slight involuntary movements
  • Seizures

When should I see my doctor?

Early diagnosis and treatment can stop Huntington’s disease worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any signs or symptoms listed above or have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Huntington’s disease?

A defect in a single gene causes Huntington’s disease. It’s considered an autosomal dominant disorder. This means that one copy of the abnormal gene is enough to cause the disease. If one of your parents has this genetic defect, you have a 50 percent chance of inheriting it. You can also pass it on to your children.

The genetic mutation responsible for Huntington’s disease is different from many other mutations. There isn’t a substitution or a missing section in the gene. Instead, there is a copying error. An area within the gene is copied too many times. The number of repeated copies tends to increase with each generation.

In general, symptoms of Huntington’s disease show up earlier in people with a larger number of repeats. The disease also progresses faster as more repeats build up.

Risk factors

What increases my risk for Huntington’s disease?

Because Huntington’s disease is a kind of hereditary condition; therefore, it is supposed that there is no risk factor for this condition.

Diagnosis & Treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

 

How is Huntington’s disease diagnosed?

A diagnosis of Huntington’s disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.

Neurological examination

The neurologist will ask you questions and conduct relatively simple tests in the office to judge:

  • Motor symptoms:
    • Reflexes
    • Muscle strength
    • Muscle tone
    • Coordination
    • Balance
  • Sensory symptoms
  • Sense of touch
  • Vision and eye movement
  • Hearing
  • Psychiatric symptoms
  • Mental status
  • Mood

Neuropsychological testing

The neurologist may also perform standardized tests to assess:

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

Psychiatric evaluation

You’ll likely be referred to a psychiatrist for an examination to judge a number of factors that could contribute to your diagnosis, including:

  • Emotional state
  • Patterns of behaviors
  • Quality of judgment
  • Coping skills
  • Signs of disordered thinking
  • Evidence of substance abuse

Brain imaging and function (CT-scan, or MRI)

How is Huntington’s disease treated?  

There’s no cure for Huntington’s disease and its progress can’t be reversed or slowed down. As the condition progresses, it may put a strain on family and relationships. Treatments for Huntington’s disease aim to improve any mood disturbance; this is done to maintain skills used in daily living that can deteriorate over time.

Medication can help manage some of the symptoms, such as irritability or excessive movement. Therapies such as speech and language therapy and occupational therapy can help with communication and day-to-day living.

Support is also available for the family of a person with Huntington’s disease. This includes, for example, testing family members who don’t have any of the condition’s features (manifest) to see whether they carry the gene, or help with choosing a suitable care home in advanced cases.

Lifestyle changes & Home remedies

What are some lifestyle changes or home remedies that can help me manage Huntington’s disease?

These are some useful home remedies to control Huntington’s disease, include

  • People with Huntington’s disease often have difficulty maintaining a healthy body weight. Difficulty eating, higher caloric needs due to physical exertion or unknown metabolic problems may be the cause. To get adequate nutrition, more than three meals a day may be necessary.
  • Difficulty with chewing, swallowing and fine motor skills can limit the amount of food you eat and increase the risk of choking. Problems may be minimized by removing distractions during a meal and selecting foods that are easier to eat. Utensils designed for people with limited fine motor skills and covered cups with straws or drinking spouts also can help
  • Using calendars and schedules to help keep a regular routine
  • Initiating tasks with reminders or assistance
  • Prioritizing or organizing work or activities
  • Breaking down tasks into manageable steps
  • Creating an environment that is as calm, simple and structured as possible

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: April 14, 2017 | Last Modified: April 14, 2017

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