Huntington’s Disease – Features And Signs

Huntington’s disease is a dominant hereditary neurodegenerative disease. Basically, the clinical features appear as a symptomatic triad. Today we will tell you more about this disease and inform you about treatment options.
Huntington's Disease - Features and Signs

George Huntington first described the disease, which was later named after him, in 1872. He called Huntington’s disease hereditary chorea, based on the Greek word choreia , which means dance. He wanted to describe the typical contortions, grimaces and uncontrolled movements of the affected patients. Therefore, this disease is also known as Huntington’s chorea or Huntington’s chorea.

However, there is much more to this disease than just motor disorders. It belongs to the subcortical dementia diseases.

Huntington's disease - person in a wheelchair looks out the window

Epidemiology

The prevalence of Huntington’s disease is between 5 and 10 per 100,000 people. It can occur between the ages of 10 and 60 years. The first symptoms usually appear in mid-life, between the ages of 35 and 50. It can also start in two different ways:

  • With children. The symptoms appear in 3-10% of cases before the age of 20. It can be transmitted by either parent. The clinical picture is characterized by slow movements, stiffness, cognitive disorders and, in some cases, epilepsy.
  • Later or senile type. In 10-15% of cases, the changes manifest themselves after the age of 60. This type is transmitted from the mother and has a slower course. Mainly choreic symptoms with few cognitive functional changes occur.

After the first symptoms appear, there is a progressive deterioration. In addition, the life expectancy of patients is between 10 and 20 years.

The genetic cause of Huntington’s disease – a change in the structure of the brain

The genetic alteration that causes Huntington’s disease occurs in the shorter section of chromosome 4. This mutation leads to a number of changes in the structure of the striatum and the cerebral cortex.

As the disease progresses, there is marked atrophy of the bilateral caudate nucleus and putamen, and atrophy of the frontal and temporal lobes.

In addition, changes occur in the neurotransmission systems, the density of dopamine receptors is lower and numerous glutameric afferents of the neocortex are lost.

The striatum is located in the forebrain and is the main route for conveying information to the basal ganglia. These are involved in motor and non-motor functions. Hence, the changes in these structures or the result of their damage are the causes of the characteristic symptomatic triad of Huntington’s disease.

The symptomatic triad of Huntington’s disease

Motor disorders

The motor disorders are one of the most well-known symptoms of this disease. At first there are only small tics, which later develop into choreic movements that extend to the head, neck and extremities. Ultimately, they cause significant restrictions in the lives of those affected.

Walking becomes increasingly unstable and patients ultimately lose all of their mobility.

In addition , their speech is also impaired and communication becomes increasingly difficult as the disease progresses. In fact, the risk of suffocation from swallowing also increases. Other changes also occur: stiffness, slowness, and the inability to perform voluntary movements, especially complex movements. Dystonia and eye movement disorders also occur.

Cognitive disorders

During the first few years of the disease, the characteristic cognitive deficits particularly affect memory and learning. The memory problems are more due to the difficulty in getting information than to consolidation problems. However, the ability to recognize things is retained.

In addition, spatial disturbances and long-term memory difficulties are common and do not deteriorate seriously over time.

In addition, the memory for procedures and processes changes. This means that the patient forgets how to perform learned and automatic behaviors. As the sufferer’s attention is also impaired, it is difficult for them to focus and stay focused.

Some patients experience changes in their language skills, decreased cognitive processing speeds and impaired executive brain functions.

Behavioral disorders

Since behavior disorders can occur a few years before the first motor signs, the following symptoms often occur in the prediagnostic phase: personality changes, irritability, anxiety and anxiety disorders and disinhibition.

35-75% of people diagnosed with Huntington’s disease also have other mental disorders. These include depression, irritability, restlessness and anxiety, apathy and listlessness. In addition , emotional changes, aggressiveness, hallucinations, insomnia, and thoughts of suicide can also occur.

Huntington's Disease - Man with Head Down

Treating and improving the quality of life for patients with Huntington’s disease

There is currently no treatment that can stop or reverse the course of Huntington’s disease. Therefore, the interventions are primarily aimed at treating symptoms and relieving motor, cognitive, emotional, and behavioral disorders. The aim is to improve a patient’s ability to function as much as possible and thereby improve their quality of life.

Motor symptoms can be managed with drug treatment and physical therapy. In addition, behavioral and emotional changes can also be controlled through a combination of pharmacology and neuropsychological rehabilitation.

In addition, genetic counseling is a very good tool to deal with this disease. This is because it enables a presymptomatic diagnosis to be made for people who are at risk of hereditary Huntington’s disease. In this way, treatment can start very early. In addition, those affected can prepare themselves emotionally for this disease.

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