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especialista em Doença de Huntington em curitiba

Huntington's disease

Huntington's disease is a rare, progressive genetic disease.

It usually manifests itself in adulthood, although it can start much earlier depending on the genetic mutation

The disease manifests itself through motor symptoms (related to body movements), psychiatric symptoms and cognitive symptoms. 

Motor symptoms may manifest as:

Chorea- This is the main symptom and greatest characteristic of the disease. So much so that until recently the disease was known as "Huntington's chorea".

Chorea is an involuntary movement of the limbs, trunk or face, which gives a restless appearance (patient cannot stay still), often appearing as if the patient is "dancing".


Dystonia- It is a movement of muscle contraction, which causes the person to adopt abnormal postures, looking like he has "twisted" limbs.

Ataxia- Represents the lack of balance and precision, both when walking and when picking up objects.

It is also common motor ticsparkinsonism and eye changes, mainly with slowness of eye movements.

Psychiatric symptoms. may manifest initially as anxiety, depression or apathy, but it is common to evolve with agitation, aggressiveness and psychosis.

The suicide rate in patients with the disease is 4 to 6 times higher, most likely due to symptoms related to psychotic conditions and other psychiatric disorders, requiring full attention from the doctor and family members.

The cognitive symptoms  can start such as forgetting, but in general it occurs through the loss or difficulty in performing tasks that require planning. These symptoms tend to progress, leading to a insanity throughout the course of the disease.

Dúvida sobre doença de Huntington em curitia

Huntington's disease can also affect young people, depending on the genetic mutation (the number of gene repetitions). In this case the symptoms tend to appear earlier, and so do the complications, hence the importance of a specialized neurologist with experience in treating patients with the disease.

Huntington's Disease Treatment

The treatment of Huntington's disease may pass through a revolution in the coming years. Because drugs directed to the modification gene seem to be the future, and many drugs are being used, without having something available for commercialization, still.

Current treatment is based on the treatment of the main symptoms, with attention to psychiatric disorders, speech, balance and swallowing disorders, which is why the great importance of monitoring with a specialist neurologist, physiotherapy, occupational therapy, speech therapy and psychology.


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