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Huntington’s disease: causes, symptoms and treatments

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Huntington’s disease: causes, symptoms and treatments
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Huntington’s disease – or Huntington’s Chorea – affects between 1 in 10,000 to 20, 000 people according to UK research. This disease, which affects men and women alike, is a hereditary neuro-degenerative disease. But what are the causes, symptoms and treatments for this illness which cause suffers to gradually lose control of their physical and mental capacities?

Cause of Huntington’s disease

Huntington’s disease is an inherited illness.  The sufferer inherits the disease in their genetic make-up as there is a mutation in chromosome 4.  When a parent develops Huntington’s Disease their children have a one in two chance of developing the illness once they are an adult.  However Huntington’s Chorea is an autosomal dominant genetic disorder. This means that if a parent does not pass the disease on to their child, their grandchildren will not have it.

How to recognise this illness?

What are the symptoms?

Diagnosing this illness is difficult for specialists as the symptoms can vary drastically from person to person.  What’s more, they can easily get confused with other physical or even psychological illnesses.  It is therefore important that the doctor carries out a medical history of the patient and their family.

The physical symptoms can be:

  • Instability when walking
  • Balance problems;
  • Agitation;
  • Impatience;
  • Tics and jerky movements;
    Possible malnutrition.

Psychological symptoms can include :

  • Loss of sense of direction;
  • Memory disorders;
  • Emotional disorders;
  • Withdrawn;
  • Tiredness;
  • Mood swings ;
  • Aggressiveness

In the end, Huntington’s disease leads to a total loss of autonomy for the sufferer. Even if it is possible to warn sufferers that they will be affected by the disease, it is difficult to prepare yourself for losing your capacity to carry out simple everyday tasks. 

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Predicting if you suffer from Huntington’s Disease

It is possible to carry out extensive genetic tests to find out if you suffer from the mutated gene which causes Huntington’s disease.  Warning tests can be taken if you think you might be affected as a family member is affected.  In view of the severity and degradation experienced by the sufferer, these results are decisive and confirm the onset of the disease.

What treatments are possible?

There are many ways to help relieve symptoms for sufferers of Huntington’s disease although it is not curable. In fact, it is necessary to support the patient in multiple ways in view of the range of symptoms.

  • Medication treatments help to relieve psychological disorders and mental and physical problems.
  • Physical rehabilitation helps to slow down the loss of limb control.
  • Constant care. There comes a stage where the patient becomes totally dependent on those around them. Care workers and day care centres can help relieve family who are looking after loved ones, and improve the living conditions of the person in pain.

Research is also underway to develop new treatments:

  • Grafts of cells or neurons to stabilize or restore the functions of the patient.
  • Gene therapies are also being tested to protect neurons from degeneration. Other research attempts to alter the gene which is responsible for the disease. In other words, make the mutated gene no longer cause Huntington’s chorea.

Conclusion

Huntington’s disease is an illness which makes it impossible for the sufferer to live alone.  Physiological and moral support needs to be given to the family of the sufferer as well as their life is also affected by the illness as they need to be there to give constant care to the person affected.

Sources : Huntington Association France and Inserm

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