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Huntington's Disease Awareness Month

Initiated by the Huntington’s Society of Canada, over the recent years May has become an international Huntington’s Disease (HD) Awareness Month. It is an excellent opportunity to raise awareness and share some understanding about this condition worldwide. 

One of the initial ways to raise awareness was the launch of the #LightItUp4HD campaign. Now it has grown into a global movement; during May, buildings, monuments, and statues worldwide are lit up in blue and purple. Blue to raise awareness of Huntington’s disease, purple of juvenile Huntington’s disease. 

This year, due to the COVID-19 situation and associated priorities and restrictions, the HD Society is encouraging individual action to make the HD Awareness Month a success! This could be for example by creating posters for doors and windows or using the blue and purple lights to decorate private gardens, balconies, or apartments from the outside. Another way to raise awareness of HD topics is by sharing experiences, customized pictures, and videos via social media with the hashtag #LightItUp4HD.

Huntington's Disease Definition

Huntington’s disease is a rare, progressive, inherited brain disorder that causes uncontrolled movements like jerking or twitching, emotional problems, and loss of thinking ability (cognition). The disease causes brain cells called neurons to die in various areas of the brain, including those that help to control voluntary and intentional movement.

Mechanism of the Disease 

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered Huntingtin gene from one affected parent. In rare cases, an individual with Huntington’s disease does not have a parent with the disorder. This mutation happens in the form of a CAG trinucleotide repeats expansion.

As the altered Huntingtin gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington’s disease typically have 40 to 50 CAG repeats in the Huntingtin gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.

Individuals who have 27 to 35 CAG repeats in the Huntingtin gene do not develop Huntington’s disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington’s disease (36 repeats or more). This phenomenon is called anticipation and occurs more often when the expanded allele is transmitted from the father than from the mother.

Statistics about Huntington's Disease

15-20
YEARS
15 to 20 years
Individuals with the adult-onset form of Huntington’s disease usually live about 15 to 20 years after signs and symptoms begin.
person's 30s to 50s
Adult-onset Huntington’s disease, the most common form of this disorder, usually appears in a person's 30s to 50s.
30s-50s
AGE
3-7
per 100,000 people
3 to 7 per 100,000 people
Huntington’s disease (HD) affects both men and women of all ethnic groups. Huntington’s disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.
90% FAMILY HISTORY
90% of diagnosed patients had or have a Huntington’s disease history in the family.
90%
FAMILY HISTORY

 

"There is a lot of fear and stigma about this disease. Many parents feel guilty for potentially having exposed their children with this disease. There is often an intention to keep silent as long as possible, not to bother family and relatives. 

But the right time to say something never comes. 

And this is sad, because handling the situation openly and sincere helps everyone who is involved. One should be aware that this condition hits not only the patient but the whole family, relatives, and friends. Everyone needs to adjust to the whole new situation. Also talking with other families who went through similar experience is very helpful and supportive.”

Astri Arnesen
President
The European Huntington’s Disease Association

Disease Stages

Huntington’s disease is a progressive disease that includes five stages:

  • Stage 1: Early stage 

Duration: 8 years from disease onset.

Functionality: the patient is fully functional at home and at work.

  • Stage 2: Early intermediate stage 

Duration: the stage lasts between 3 and 13 years from disease onset.

Functionality: the patient is mostly able to carry out daily activities despite some difficulties and usually requires only slight assistance with daily functions.

  • Stage 3: Late intermediate stage 

Duration: the stage lasts between 5 and 16 years from disease onset.

Functionality: the patient can no longer conduct work or manage household responsibilities. Irritability, anxiety, and impulsiveness may become evident.

  • Stage 4: Early advanced stage 

Duration: the stage lasts between 9 and 21 years from disease onset.

Functionality: the patient is not independent at this stage, but still can reside at home with help from either family or professionals.

  • Stage 5: Advanced stage 

Duration: the stage lasts between 11 and 26 years from disease onset.

Functionality: the patient needs total support in daily activities from professional nursing care.

Symptoms 

“Huntington’s disease is like aging. It is not happening within one day, but there is a change every day, constantly. This disease has a long period of grey zone, being almost invisible for the patients and their relatives for quite some time.”

                                                                                                                                                                                                                                 Astri Arnesen
                                                                                                                                                                                                                                         President
                                                                                                                                                               The European Huntington’s Disease Association

 

The symptoms of Huntington’s disease may differ widely between people, even between members of the same family. Nevertheless, the symptoms usually refer to the three main areas:

  • Movement symptoms
    Movements are happening when you do not expect them, and at the same time doing intentional movement is getting more difficult.
  • Cognitive symptoms
    Planning and thinking process are getting more difficult
  • Behavioral symptoms
    Feeling moody, ups and downs in temper.

It is important not to confuse HD symptoms with other disease symptoms and to get a correct diagnosis. This is especially relevant for people who are not aware that the faulty gene is in their family and that they are at risk.

Diagnosis 

Preliminary Huntington's disease diagnosis is based on a general physical exam, a review of the patient’s family medical history, as well as neurological, psychiatric examinations and genetic testing:

  • Neurological examination includes for example testing of motor symptoms such as reflexes, muscle strength, balance, as well as testing of sensory symptoms (sense of touch, vision, and hearing). The neurologist can also perform standard tests of memory, mental agility, language skills etc.
  • Psychiatric evaluation is completed by a psychiatrist who examines for example person emotional state, behavioral patterns, signs of disordered thinking etc. Brain-imaging tests for assessing the structure or function of the brain can be done as well. MRI and CT images may reveal changes in the brain in areas affected by Huntington's disease.
  • Genetic testing is conducted if symptoms strongly suggest Huntington's disease to confirm the diagnosis.

“Find a doctor of your trust with whom you can talk openly about the symptoms that worry you. Be sincere to talk about this topic, possible impact on your life and habits. This will help to establish a long-term trustful relation between doctor and patient, develop reasonable therapy and provide efficient, adequate care.”

Prim. Univ.-Prof. Dr. Walter Pirker
Department of Neurology
Wilhelminen Hospital, Vienna

Treatment

Unfortunately, currently there is no cure for Huntington's disease or any way to stop its development. 

Research into new treatments is ongoing and there have been some promising results recently. Feel free to visit the Trial Finder 
(https://hdtrialfinder.net/about-us/ ) to find out which Huntington’s disease trials are currently running.

Even though there is currently no cure, the symptoms treatment and support may help to reduce some of the problems caused by the condition.

“The best treatment of the Huntington’s Disease should be provided in specialized neuropsychiatric centers where both aspects – neurology and psychiatry – can be covered in an aligned, holistic manner by specialists. I wish that there would be more such centers all over the world.”

Prim. Univ.-Prof. Dr. Walter Pirker
Department of Neurology
Wilhelminen Hospital, Vienna

Everyday life 

“We want to nourish hope. It is not about giving unrealistic hope but sensitizing that there are many horses in the race, there are many studies running! 
Hope is incredibly important for everyday coping!”

Astri Arnesen
President
The European Huntington’s Disease Association

“If you get diagnosed do not hide your head in the sand. Stay open, positive and keep up the hope for a cure. 
It is important to go on with regular life as long as possible, for example to continue working, meeting friends and family, having hobbies! 

Such non-medical treatments as regular exercising, physiotherapy, logotherapy and massage etc also have a positive impact.”

Prim. Univ.-Prof. Dr. Walter Pirker
Department of Neurology
Wilhelminen Hospital, Vienna

"Even when the days are dark, keeping the hope is the most important. It gives strength to go through this experience. There are numerous trials on Huntington’s disease worldwide and we must believe that sooner or later there will be an affordable cure! Until then having a medication to postpone disease development is significant. Keeping yourself fit, giving your body and mind exercising, healthy nutrition improves life quality. Last but not least keeping relationship to your family, friends, colleagues, meet other people with the same diagnosis!”

Cath Stanley
Chief Executive
The Huntington Disease Association UK

 

Huntington’s disease has long-term effects not just on patients, but also their entire families. Patient support groups can provide valuable information, mental and physical support, contacts to specialists which are of a considerable benefit to patients, their families, and caregivers. Patients and their families might benefit from contacting patient support groups, just to name few:

Huntington’s disease is a progressive disease, which means that symptoms increase over time and greater care and support is needed the longer patient lives with the disease. The role of patient organizations in improving the patient’s life quality is enormous.

The European Huntington Association (EHA) was established in 1986 and nowadays is an umbrella organization for 43 National Huntington Associations and more than 30.000 individual members! 

One of our focuses is to support establishment of the new Huntington Associations. For example, in the recent years Lithuania, Romania, Bulgaria, Malta, Greece and Turkey have founded own associations to support the patients and their families locally.

Another focus of our activity is to support Research & Development activities, advocating for the studies in the community. We also work with authorities and act as one voice for better treatment, research and fighting stigma.

We stand in vision of solidarity for the patients with Huntington’s Disease!

Astri Arnesen
President
The European Huntington’s Disease Association

Another aspect that is relevant for patients and their relatives in the late phases of the disease development is the availability of specialized care homes where patients can receive extensive, adequate, and professional care!

“Care homes availability for the Huntington’s disease patients in the late stage is vitally important. In many countries there are no care homes at all. Patients’ family members take over this hard task for many years. There are so many heroes out there!”

Astri Arnesen
President,
The European Huntington’s Disease Association

Sources