Neurodegenerative diseases affect the central nervous system and are characterized by their progressive aspect. They can affect the areas of the brain that control emotions, those involved in motor skills or those that manage balance. Among these pathologies, we find Alzheimer's disease, spinocerebellar ataxia (ASC), Parkinson's disease, Charcot disease, amyotrophic lateral sclerosis (ALS) or Huntington's disease (HD). These incurable conditions are a cause of disability and dependence and therefore have a major impact on the quality of life of patients. Early detection nevertheless allows better management of the symptoms of these diseases.
Huntington's disease: what is it?
Also called "Huntington's chorea", Huntington's disease is a rare neurodegenerative disease. It is associated with so-called "choreic" movements, in other words involuntary muscle contractions, but also cognitive and psychiatric disorders.
It is a hereditary disease caused by the mutation of a gene: the gene for the protein huntingtin, which is essential for the normal functioning of the body. This mutation causes a degeneration of neurons which begins in the striatum, a small nerve structure located below the cerebral cortex and which plays a role in the execution of movements.
In France, 6,000 people are affected by this hereditary disease and 12,000 people are carriers of the genetic mutation responsible for the disease. You should know that an affected parent affected by Huntington's disease presents a risk in two to transmit this gene mutation to their children.
What are the symptoms of Huntington's disease?
Symptoms of Huntington’s disease most commonly appear around the age of 40. But they can also appear later or earlier: there are juvenile forms of this pathology. They are rarer, but can then appear around the age of 20. The signs of Huntington's disease are:
Of motor disorders, to know :
- involuntary movements called "chorea";
- balance disturbances;
- difficulty in articulating;
- awkwardness.
Of psychiatric disorders, to know :
Of cognitive disorders to know :
- memory loss;
- trouble concentrating;
- disorientation in space;
- organizational difficulties;
- learning disabilities.
Other common but less known symptoms:
As Huntington's disease is degenerative, these symptoms worsen over time. Motor and cognitive functions therefore deteriorate over the years and death occurs on average twenty years after the onset of the first manifestations of the disease.
Huntington's disease: how is the diagnosis made?
The diagnosis of this pathology is made initially through its clinical observations. This examination is then confirmed by a genetic test, carried out via a simple blood sample. The objective? Analyze the huntingtin gene.
Since Huntington's disease is hereditary, a family history analysis can allow early detection, sometimes even before symptoms appear. There is thus what is called a predictive test, which can be carried out by people of full age with a parent affected by the disease. This approach is not trivial, it is nevertheless very supervised and involves meetings with geneticists, neurologists, psychiatrists, psychologists or even social workers.
How to treat Huntington's disease?
There is no treatment to date to treat Huntington's disease. The multidisciplinary management of the symptoms of this pathology nevertheless improves the quality of life of patients. It is based on physiotherapy, psychotherapy or speech therapy. Taking neuroleptics can also help limit choreic movements, while taking antidepressants can help fight the psychological symptoms of Huntington's disease.
Sources: the websitesOrphanet, of the Foundation for Medical Research (FRM), of the'Huntington France association and someNational Institute of Health and Medical Research (Inserm).
Read also :
Hunt Huntington's disease: what is this disease from which Guy Bedos' ex-wife and adopted son suffered?
⋙ Neurodegenerative diseases: paths that give hope
⋙ Sanfilippo disease: what is this neurodegenerative pathology?