Table of Contents
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Index
What is Huntington’s Disease?
What Are the Symptoms of Huntington’s Disease?
Cognitive Disorder Symptoms in Huntington’s Disease
Psychiatric Symptoms in Huntington’s Disease
What Causes Huntington’s Disease?
What Are the Types of Huntington’s Disease?
How Is Huntington’s Disease Diagnosed?
Genetic Testing in Huntington’s Disease
What are Huntington’s Disease Treatment Methods?
Huntington’s disease is caused by a genetic disorder passed down from parents to children. Having Huntington’s disease in the family means that descendants are at risk. The course of the disease can vary from person to person, and the age at which the symptoms appear also differs. However, regardless of age, the symptoms get worse day by day. Since there is no definitive treatment method for Huntington’s disease today, drug treatments are applied to regress the symptoms. Thus, it is aimed to slow down the course of the disease. In the diagnosis and treatment process, some tests and treatment methods are applied together. Because the spectrum of symptoms revealed by Huntington’s disease is quite wide.
What is Huntington’s Disease?
Huntington’s disease is a disease caused by the severe breakdown (degeneration) of nerve cells in the brain. It is extremely rare and is based on hereditary causes. Huntington’s disease affects all functional abilities necessary for individuals to continue their lives. These effects lead to cognitive (thinking), movement and psychiatric disorders. Symptoms of the disease can occur at any age. However, symptoms commonly progress noticeably after the thirties and forties. The development of Huntington’s disease before the age of 20 is defined as “Young Huntington’s Disease”. Huntington’s disease, which develops early, shows different symptoms and progresses more rapidly. Brain changes such as abnormal involuntary movements, decline in thinking and reasoning abilities, irritability and depression increase day by day. This causes the patient to get worse every day. Various drugs are used to reduce the effect of the disease. However, the disease cannot be cured. No matter how slowly it progresses, the course of the disease causes the patient’s health condition to worsen day by day.
What Are the Symptoms of Huntington’s Disease?
Huntington’s disease often causes movement problems, psychiatric and cognitive disorders with a wide range of symptoms. The order in which the symptoms occur differs from patient to patient. Symptoms of the disease usually appear in the 30s and 40s. However, symptoms may appear for the first time in a 2-year-old baby or an 80-year-old old man. Visible movement disorder symptoms may include:
writhing movements or involuntary jerks
muscle stiffness or muscle problems,
Abnormal or slow eye movements
Posture, balance and gait disorders
Difficulty swallowing or speaking
Cognitive Disorder Symptoms in Huntington’s Disease
Disorders also occur in voluntary movements, these prevent the activities that the individual wants to do. Therefore, it negatively affects the patient’s ability to communicate and be self-sufficient. Symptoms of cognitive impairment include:
Difficulty focusing and planning
Obsession with a behavior, action or thought,
Inconsistency in impulsiveness and sexual abilities
Lack of awareness of the patient’s own abilities and behaviors,
Thinking disorder or inability to find the right word
Difficulty in acquiring new information
Psychiatric Symptoms in Huntington’s Disease
Psychiatric disorders can be listed as follows:
apathy, sadness or irritability,
social passivity,
Insomnia,
Loss of energy and constant feeling of tiredness,
Don’t think about suicide or death often.
What Causes Huntington’s Disease?
Huntington’s disease occurs due to the inherited disruption of a single gene. It is an autosomal dominant disease. This means that it only takes one copy of the atypical gene for an individual to become ill. Genes other than sex hormones are inherited in duplicate. A copy of the gene from both the mother and the father is passed on to the individual. Therefore, the probability of a child in the family inheriting the unhealthy gene is 50 percent. Transferring the unhealthy gene to the child is the only condition for the emergence of Huntington’s disease. Apart from this, it is not possible to see Huntington’s disease in an individual. In other words, there is no possibility of transmission of the disease to another individual, except for genetic pathways. Therefore, it is important for sick individuals to be aware of the transmission status of the disease when adopting biologically. Otherwise, the probability of another individual with Huntington’s disease coming into the world is quite high.
What Are the Types of Huntington’s Disease?
The process of onset and progression of Huntington’s disease in young people is different compared to adults. For this reason, huntington that occurs in young people is called “Juvenile Huntington’s Disease”. Symptoms of juvenile huntington disease, which occurs in young people, can be more severe and more deadly. Difficulty in attention, rapid and significant declines in general school performance and learning capacity, unexpected behavioral disorders can be listed as symptoms related to behavioral changes. The physical changes are as follows:
Gait disturbances caused by stiffening and contraction of muscles, especially in young children,
Involuntary movements and concussions,
Frequent falls or clumsiness due to involuntary contraction of the muscles,
seizures
Parents should consult a doctor if they see Huntington’s disease-like symptoms in their children’s movements or cognitive states. Thus, slow progression of symptoms can be achieved.
How Is Huntington’s Disease Diagnosed?
Pre-diagnosis of Huntington’s disease; It is possible with general physical examination, medical health history, familial medical history, neurological and psychiatric evaluation. The neurological examination includes a number of simple questions and tests that are asked to the patient. Motor symptoms such as muscle strength, reflexes, and balance are evaluated. All sensory manifestations are detected, including vision, hearing, and the sense of touch. Observations are made on psychiatric symptoms such as the patient’s mental state and mood. In addition, the neurologist may perform tests on neuropsychological abilities such as memory, reasoning, mental agility, language skills, and spatial reasoning.
Genetic Testing in Huntington’s Disease
Psychiatric assessments such as substance abuse, emotional state, quality of judgment, behavioral states, coping abilities, and thinking abilities can also be applied for diagnosis. Along with all these evaluations, medical imaging tests are used to view the structure of the brain. MRI and CT scans are very useful for imaging brain structure. These images are useful in displaying changes in areas affected by huntington’s disease. In the early stages, no negativity can be observed in the brain. However, evaluation of other symptoms and images together may be effective in making a more accurate diagnosis of the disease. Apart from these, a test called predictive genetic testing can be applied. This test is used if there is a family history of the disease but no symptoms. The test cannot detect when symptoms of the disease will appear. A genetic counselor’s approval is required for its implementation. Therefore, it is not among the priority tests.
What are Huntington’s Disease Treatment Methods?
There is no treatment method that will change the course of Huntington’s disease yet. However, some medications can reduce some psychiatric and movement disorders. A combination of drugs may be used to slow the progression of symptoms. The drugs used vary according to the course of the disease. Because side effects of drugs may occur that worsen some symptoms. This means that the dose or type of drug administered will constantly change.
A number of drugs are used in the treatment to suppress involuntary jerking and contraction movements. However, these drugs can cause an increase in restlessness and depression. Again, in order to suppress these side effects, antipsychotic drugs can be added to the treatment. Antipsychotics can also trigger restlessness and drowsiness. Medications should be used under the supervision of a doctor, as they are likely to trigger symptoms. Antidepressants are recommended for psychiatric disorders. However, symptoms such as nausea, vomiting, diarrhea, drowsiness and low blood pressure may occur due to these drugs. The patient may need psychotherapy to deal with behavioral problems. Speech therapy and physical therapy are also among the treatment methods applied. The treatments applied are only to ensure that the patient can cope with Huntington’s disease throughout his life. It is not possible for the patient to regain his health with current treatment methods.
If you are showing the symptoms of Huntington’s disease or if you know someone in your family who has Huntington’s disease, you should be examined immediately. Thus, you can get support in this regard and plan your treatment.