Huntington's disease

Definition

Huntington's disease, also known as Huntington's chorea, is a hereditary neurodegenerative disease. As a genetic disorder, it is not contagious. Children with one affected parent have a one in two chance of also carrying the mutated gene.
The disease destroys neurones in certain regions of the brain, thus severely impairing sufferers' physical and mental capacity. In the later stages, it causes loss of independence and patients become dependent on others. Ultimately, sufferers die approximately 15 to 20 years after the onset of the disease. The biggest cause of death is pneumonia, followed by suicide. One in every 10,000 people in France are affected. The disease affects both men and women and patients are usually aged between 30 and 45. Children and the elderly contract it in very rare cases.

Cerveau

Sources: www.pharmavance.fr

Symptoms and diagnosis

The list of symptoms is long. They are divided into three categories: motor disorders, behavioural disorders and cognitive impairment. Here is a list of the most common symptoms:

  • Incoordination of movement
  • Saccadic movement
  • Impaired balance
  • Agitation
  • Unsteady gait
  • Aggressiveness
  • Personality disorders
  • Clumsiness
  • Nervousness
  • Impatience
  • Tics
  • Fatigue
  • Social withdrawal
  • Mood swings
  • Impaired sense of direction
  • Emotional difficulties
  • Memory disorders, etc.

Huntington's disease is quite difficult to diagnose as the symptoms are not unique to the condition. Although physicians can perform clinical examinations and family history is a useful indicator, the only certain means of diagnosis is genetic testing.

Treatment

People suffering from this disease are monitored by physicians and psychologists. However, anyone at risk of contracting it can seek information about the disease from neurologists, general practitioners, associations and the social services.
Although no curative treatment exists, it is possible to improve sufferers' condition and delay deterioration. To that end, temporary treatments are available that are aimed at extending patients' lives and relieving the symptoms of the disease. Throughout the course of this disease, family support is very important although this alone is not enough once the disease reaches a certain stage. Diagnosis can also be a shock for the rest of the family.

Several solutions to facilitate your treatment

If you need to follow a treatment made up of neuroleptics, sometimes combined with an antidepressant or anxiolytic treatment, there are several pill dispensers available to organise your medicines and stop you from forgetting to take any of them.

Moreover, the pharmaceutical company Teva Pharmaceutical Industries is currently working with Intel Corporation to develop a connected watch that will read and record patients’ health data to track the progress of the disease, detect symptoms and thus improve understanding of the illness. The watch, equipped with sensors to measure vital parameters, will be connected to a smartphone that records data on a cloud platform. For more information, read the full article on Santé sur le Net (in French): Maladie de Huntington, bientôt un objet connecté [A connected object for Huntington’s Disease].

Research

The disease was discovered in 1872 by Dr George Huntington. However, the gene was not discovered until 1993. For years, researchers around the world have been trying to develop a treatment. Neuron transplants have been trialled.

Sources: www.huntington.frwww.orpha.netwww.sante-sur-le-net.com