Huntington’s disease: what it is and how to treat it

Huntington's disease is very rare. Let's find out how to recognize it and what are the symptoms and treatments.

When we talk about Huntington's disease we mean a problem of the central nervous system that leads to the degeneration of neurons in the cerebral cortex and basal ganglia.
It is a very rare and genetic disease that usually occurs between the ages of 30 and 50 and leads to involuntary movements, behavioral changes and cognitive impairment.
In some cases it can occur at a young age (ie before the age of 20) and when it does it is usually less evident but also with a more rapid progression.

Statistically it affects an average of 5 people out of 100,000 and being dominant it is enough that only one of the parents is affected for it to be transmitted. More precisely, the children of even one person with this disease have a 50% chance of developing it themselves.
In rare cases the disease can also occur in the absence of genes in the family and due to a new spontaneous mutation. However, these are sporadic cases.

What are the symptoms of Huntington's disease

As already mentioned, this disease leads to uncoordinated movements and a deterioration in mental function. Going right to the symptoms, these usually start very lightly and with involuntary movements of the face, limbs and trunk. Added to this are also contractions , spasms and rigid movements.

Over time, the latter become even slower and more uncoordinated and extend to the whole body, making it difficult to walk, eat, talk, etc. Those who contract it at a young age can also experience epileptic seizures. From a mental point of view, the progression of the disease leads to anomalous behavior, memory damage and unrational thoughts. In some cases, severe depression , anxiety or obsessive-compulsive disorders may also arise.

How is the diagnosis made and what are the treatments

Doctors usually determine the presence and extent of the disease based on symptoms, patient history, and family history. Then follow genetic tests and MRI or CT.
It often takes a while to recognize it unless you have known cases in the family. And all because, as already mentioned, its appearance is initially almost muted.

As far as treatments are concerned, Huntington's disease does not currently have one and is considered progressive. However, drugs are administered to slow it down and to help the patient manage symptoms. Among these are antipsychotics which, among other things, are useful for calming voluntary movements . Depending on the symptoms, antidepressants may also be prescribed.

Lesser known details about this disease

The disease takes its name from George Huntington, an American doctor who described it accurately for the first time in 1872. In most cases, when a person discovers that he suffers from this disease, genetic counseling is usually offered for relatives.
Furthermore, being a rare disease also known as Huntington's core or HD, Huntington's has an identification code which is RF00 80.