Huntington's Disease (HD)

progressive brain disorder that causes nerve cells to break down

aadc dopamine deficiency
< 1

In Every
1,00,000

5 %

Cases in
Chidren

25

Yrs. Avg.
Age of Onset

5

Yrs. Avg.
Survival

Genetic Brain Disorder

Huntington's Disease (HD)

Huntington’s disease is a deadly genetic disorder that causes nerve cells in the brain to breakdown and waste away until they no longer work. Symptoms of HD typically begin with involuntary muscle movements, or choreiform movements (chorea), and as the disease progresses the chorea can subside to the point where all mobility of the muscle is lost (akinesia).

Personality changes often occur, and dementia gradually develops in most patients. Furthermore, patients are also a higher risk of developing pneumonia as a result of being highly undernourished and/or bedridden.

There is currently no cure and no way to prevent the disease worsening over time, however in most cases, treatments can help manage symptoms for many years following diagnosis.

Huntington's Disease Consultation
Huntington's Disease Consultation

Huntington's Disease Symptoms

Symptoms Huntington’s of can vary greatly between patients, but will generally present multiple ailments simultaneously. These symptoms worsen overtime, and can also be amplified by stress and/or excitement.

The severity of HD symptoms is categorized into three stages; early, middle, and late.

Early stage symptoms

These symptoms can typically be managed with a little help. Common early symptoms include:

  • Decision making issues
  • Learning difficulties
  • Mood swings
  • Memory lapses
  • Abnormal movements
  • Clumsiness
  • Abnormal or slow or eye movements
  • Dystonia; muscle problems
  • Insomnia; trouble sleeping
  • Weight loss
  • Loss of energy and fatigue

Middle stage symptoms

These symptoms become more noticeable, and may require the patient to seek additional assistance for certain tasks.

Common middle stage symptoms include:

  • Chorea; uncontrolled twitching movements
  • Gait abnormalities; trouble walking
  • Confusion and Memory loss
  • Personality changes
  • Slurred, slowed speech
  • Cognitive issues
  • Breathing problems
  • Problems swallowing
  • Weight loss
  • Suicidal ideations and/or thoughts of death, dying
  • Development of obsessive-compulsive disorder (OCD), bipolar disorder, or mania 

Late stage symptoms

At this stage patients become dependent on others for care. Involuntary movements may become severe or may subside altogether.

Walking and speaking will become impossible, however most patients stay cognitive of the loved ones providing care and support for a while.

Juvenile Huntington’s disease

When diagnosed in children, the condition is known as Juvenile Huntington’s disease. Symptoms in children can differ slightly than in adults and often progress quicker. These include:

  • Tremors
  • Seizures
  • Increased clumsiness
  • Gait abnormalities
  • Speech problems
  • ADHA; problems paying attention
  • Behavior problems
  • Drop in academic performance
Huntington's Disease

Causes

Huntington's Disease Diagnosis

Although the initial signs and symptoms of Huntington’s disease can differ quite considerably between patients, is it easy for trained neurologist to spot. Diagnosis typically involves several tests in which doctors will assess muscle strength, balance, reflexes, sense of touch, vision, hearing, cognitive abilities, mood and mental state. In some cases genetic testing may be necessary to accurately confirm diagnosis, and determine the stage and severity the condition.

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Huntington's Disease Treatments

Unfortunately there is no current cure for Huntington’s; treatment involves managing symptoms, and since there are many symptoms, there are also many treatments patients will be advised to undergo. These may include:

Physical Therapy

Physical therapy trains the body’s muscles to perform more efficiently and effectively, which in turn can improve a patients’ coordination and help them better control involuntary movements.

Assistive Mobility Devices

Devices to assist patients with mobility and accessibility can greatly improve quality of life. Even small additions such as handrails and walking sticks can reduce the burden once simple tasks now places on everyday life.

Medications

Antipsychotic drugs, despite being prescribed for psychotic disorders, have been shown to help reduce these fidgety, involuntary movements that are characteristic of Huntington’s disease. Antidepressants can reduce signs of OCD (obsessive-compulsive disorder) and mood-stabilizing drugs can control the mood swings often experienced by those suffering with HD.

Nutritional Support

As the disease progresses, maintaining a strict diet becomes increasingly important. Several diet solutions can help treat HD, from strict nutrient-dense diets and supplements, to special eating utensils and in later stages, tube feeding. Similarly to many diets, exercise can be extremely helpful and act as a catalyst transforming the food you consume into fuel for the body.

Psychotherapy

Psychotherapy can teach you ways to manage changes in your emotions and how you think.  Strategies like breaking tasks into simpler steps may go a long way toward making these changes a bit easier for you and your family.

Speech and Language Therapy

Those having difficulty speaking can undergo speech or language therapy. This can also help reduce problems swallowing.

Have questions?

Huntington's Disease Frequently Asked Questions

Unfortunately there is currently no cure for HD. However, treatments can help those living with HD maintain a reasonable quality of life until later years when symptoms become extremely severe.

Diagnosis of HD can come as a quite a shock. Learning to manage the mental aspects of living with such as condition can be just as important as managing the physical. Therefore, seeking the assistance of those outside the medical community, such as social workers, therapists and/or support groups, can help make things less daunting.

With the assistance of a professional medical care team, it’s possible for people suffering with HD to live independently for many years.

Life expectancy of patients diagnosed with HD can vary from as little as 5 years following diagnosis, all the way up to 25 years, which is more common in those with adult onset HD.

Treatments for HD include a combination of medications as well as psychotherapy, speech and physical therapy. Medications designed to combat the most prominent symptoms include drugs to control movement, antipsychotic drugs, antidepressants and mood-stabilizing drugs.

Huntington’s disease is reported to affect between 10,000 – 20,000 people in U.S.A. and around 5-10 in every 100,000 throughout developed countries. The global frequency is estimated to be around 3.8:1,000,000. 

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