What is Huntington’s Disease? Symptoms and Early Diagnosis

by Abbas Jahangir · June 15, 2024

Huntington’s disease is a neurological disorder that is genetically inherited and is characterized by gradual damage to nerve cells in the brain. In addition to negatively affecting the person’s physical mobility, it also causes emotional and cognitive problems. In Huntington’s disease, for which there is currently no complete treatment, various methods are used to control the complaints. You can follow the rest of the article for other topics you are curious about about this disease.

What is Huntington’s Disease?

Huntington’s disease is a rare disease characterized by the progressive degeneration (loss) of nerve cells. With the development of Huntington’s disease, most of the person’s abilities necessary for life are negatively affected.

Although the complaints that occur with the emergence of this disorder can occur at any age, the age of onset of symptoms is usually between the ages of 30-40. In the presence of Huntington’s disease showing various complaints before the age of 20, this condition is defined as juvenile Huntington’s disease. In these early-onset cases, various differences can be observed in the complaints of the patients and it is very important for the patients to be kept under close surveillance as the disease may take a more serious course. Complaints arising from Huntington’s disease are tried to be controlled by using various medications. However, it is not possible to prevent the progression of the disease with these treatment interventions.

What are the Symptoms of Huntington’s Disease?

Symptoms occurring with Huntington’s disease may vary depending on whether the disease has early or adult onset. Adult-onset Huntington’s disease is more common than early-onset Huntington’s disease. Complaints in these people generally occur between the 30s and 40s of life. Some complaints that may occur initially with the development of the disease are as follows:

The emergence of mild involuntary movements,
Loss of coordination.
Unrest,
seeing hallucinations,
Psychosis,
Depression,

As the disease progresses, the course of these complaints may worsen and some other new conditions may be added to the disease picture:

Involuntary muscle movements called chorea,
difficulty walking,
Personality changes,
Problems with swallowing and speaking,
Speech-related changes,
Confusion,
Loss of memory,
Decrease in cognitive functions.

In early-onset Huntington’s disease, which is rarer, symptoms usually appear in childhood or adolescence.

The symptoms caused by Huntington’s disease mainly occur on changes in mobility, cognitive functions and psychiatric status. It should not be forgotten that the severity and frequency of symptoms may vary from person to person.

What Causes Huntington’s Disease?

Huntington’s disease is a genetic disorder caused by various mutations in genes. The mutation in the gene called HTT, which is considered responsible for this disease, causes the production of a faulty mutant protein. Due to this faulty protein and the pathological processes it triggers, losses occur in the person’s brain cells. Almost all cases of Huntington’s disease are familial. Since the transferred faulty gene has a dominant character, the disease occurs in a person who inherits a single faulty gene from his or her family. When examined in terms of probability, if one of the parents of the person has Huntington’s disease, the risk of developing this disease is expressed as 50%. In other words, the disease is most likely to occur in an individual who inherits a faulty gene copy from his or her family. However, it should not be forgotten that in very rare cases, Huntington’s disease may occur with a subsequent mutation in someone who does not have a faulty gene in their family.

How is Huntington’s Disease Diagnosed?

In the diagnostic approach to Huntington’s disease, the patient’s medical history, physical examination and family history are evaluated as a whole. It is very important to perform a neurological examination of the patient during the physical examination. In the neurological examination, in addition to examining motor abilities such as muscle strength, reflexes and balance, the patient’s sensory and psychiatric condition is also examined.

Various radiological imaging methods can be used after physical examination and history taking to reveal structural changes in the brain. Examinations such as magnetic resonance imaging (MRI) and computed tomography (CT) allow detailed images of brain structures to be obtained. Radiological imaging methods are also important to rule out other possible conditions. As a result of these examinations, the brain regions affected by Huntington’s disease can be identified. It should be noted that changes in the affected brain areas may not be present early in the disease.

In cases where the complaints and findings most likely indicate Huntington’s disease, physicians may also resort to genetic tests to detect the faulty gene region. Thanks to this genetic test, the diagnosis of Huntington’s disease is confirmed.

How is Huntington’s Disease Treated?

There is no treatment method yet that provides complete control of Huntington’s disease. Various medications may be prescribed to relieve complaints, especially those related to mobility and psychiatric status. Thanks to the treatment interventions, patients can adapt more quickly to the decrease in their functions and maintain their functionality to a certain extent. The dosage and variety of medications used vary depending on the course of the disease. At the same time, it should not be forgotten that some worsening of other complaints of the disease may occur due to the side effects of the drugs used.

Medications containing the active ingredient tetrabenazine can be used to relieve involuntary chorea-like movements that occur in Huntington’s disease. These drugs do not have any effect on the progression of the disease. At the same time, side effects such as dizziness and restlessness may occur with the use of these drugs, and there is a possibility that psychiatric conditions such as depression may be triggered.

Various antipsychotic drugs, especially haloperidol, are among the agents that can be prescribed to suppress chorea-like movements in Huntington’s patients. However, even if choreic movements are suppressed after the use of these drugs, caution should be exercised as some deterioration may occur in other involuntary contractions that occur due to the disease. Many psychiatric problems may also occur in Huntington’s patients. In order to control these conditions, various antidepressants, antipsychotics and mood stabilizers may be useful when necessary. In addition to drug treatment, some patients may also benefit from psychotherapy.

Talking therapies are an important part of Huntington’s disease treatment planning. During the course of the disease, problems occur in the speech centers in the brain or in the parts of the brain that control the speech-related muscles in the mouth; It can cause various complaints, especially speech, eating and swallowing problems. In such cases, speech therapists perform therapy on how the person can adapt to the extra speech device, if any, and how the person can make his current speech more understandable if such a device is not deemed necessary. In addition to speech therapy, physical therapy therapies may also be beneficial for problems related to muscle functions. It is not possible to stop the progression of Huntington’s disease. The pace of progression also varies from person to person. The estimated life expectancy in adult-onset Huntington’s disease cases is approximately 15-20 years from the time complaints first occur. In early-onset forms, the disease tends to worsen more quickly.

If you observe signs and symptoms of Huntington’s disease in yourself or those around you, it is recommended that you contact healthcare institutions and get support from specialist physicians.