Huntington’s disease is an inherited, neurodegenerative disease with physical, cognitive, and emotional symptoms. Huntington’s disease is caused by a mutation in the gene that makes a protein called Huntingtin. You can find more information below.
What is Huntington’s disease?
Huntington’s disease ; It is a progressive genetic disease that causes the breakdown (degeneration) of nerve cells in the brain . Huntington’s disease has a wide impact on a person’s functional abilities and often causes movement, thinking (cognitive) and psychiatric disorders.
Huntington’s disease symptoms can develop at any time, but usually first appear when people reach their 30s or 40s. If the condition develops before age 20, it’s called juvenile (juvenile) Huntington’s disease. When the disease develops early, the symptoms are slightly different and the disease may progress more quickly.
Medications are available to help manage the symptoms of Huntington’s disease. However, treatments cannot prevent the physical, mental, and behavioral destruction associated with the condition.
Causes of Huntington’s disease
Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disease; that is, a person only needs to have one copy of the defective gene to develop this disorder.
A person receives two copies of each gene, except for the genes on the sex chromosomes. (one copy from each parent) A parent with the mutated gene can pass one of the defective copy or healthy copy of the gene to their child. In such a situation, each child in the family has a 50% chance of inheriting the gene that causes the genetic disorder.
Huntington’s disease symptoms
Huntington’s disease causes movement, cognitive, and psychiatric disorders. Therefore, it has a wide spectrum of symptoms. In sick people; Which symptoms appear first varies from person to person. Some symptoms appear more dominant or have a greater impact on the functional ability of individuals, but this may change over the course of the disease.
Movement disorders associated with Huntington’s disease can include both involuntary movement problems and disorders of voluntary movements, such as:
- involuntary writhing movements
- muscle problems such as stiffness or muscle contraction (dystonia)
- slow or abnormal eye movements
- Gait, posture and balance disorder
- Difficulty speaking or swallowing
Disturbances in voluntary movements rather than involuntary movements; It can have a greater impact on a person’s ability to work, perform daily activities, communicate and remain independent.
Cognitive disorders associated with Huntington’s disease may include:
- Difficulty organizing, prioritizing, or focusing on tasks
- Lack of flexibility or a tendency to get stuck with a thought, behavior, or action
- Lack of control over impulses
- Lack of awareness of one’s own behavior and abilities
- slowness in processing thoughts
- Difficulty learning new information
The most common psychiatric disorder associated with Huntington’s disease is depression. This is not just a reaction to the presence of Huntington’s disease. Instead, depression occurs due to injury to the brain and subsequent changes in brain function. Symptoms may include:
- Feelings of irritability, sadness, or apathy
- Withdrawal from social life
- insomnia disease
- Fatigue and loss of energy
- Frequent thoughts of death or suicide
Other common psychiatric disorders include:
- Obsessive compulsive disorder: Repetitive, intrusive thoughts and repetitive behaviors
- Mania: Condition that causes an energetic mood, overactivity, impulsive behavior, and inflated self (self-confidence)
- Bipolar disorder: Condition in which the affected person alternates between episodes of depression and mania
In addition to the above disorders, weight loss is common in people with Huntington’s disease, especially as the disease progresses.
Symptoms of Huntington’s disease in children
The onset and progression of Huntington’s disease in children and young people may differ slightly from adults. Problems that often arise in the course of the disease are:
- attention difficulties
- Rapid and significant decline in overall school performance
- behavioral problems
- Contracted and stiff muscles affecting gait (especially in young children)
- Tremors or slight involuntary movements
- Frequent falls or clumsiness
When should you see a doctor?
You should consult your doctor if you notice any changes in your movements, emotional state, or mental ability. A number of different conditions can cause the symptoms of Huntington’s disease. Therefore, it is important to get a prompt and comprehensive diagnosis.
Huntington’s disease diagnosis
The preliminary diagnosis of Huntington’s disease is primarily based on your answers to questions, a general physical examination, a review of your family’s medical history, and neurological and psychiatric examinations.
The neurologist will ask you questions and perform relatively simple tests about:
- Motor symptoms such as reflexes, muscle strength and balance
- Sensory symptoms , including sense of touch, vision, and hearing
- Psychiatric symptoms such as mood and mental status
The neurologist may also do standard tests to check for:
- mental agility
- language skills
- spatial reasoning
You will likely be referred to a psychiatrist for examination to look for the following various factors that may contribute to the diagnosis:
- emotional state
- Behavior patterns
- decision-making quality
- coping skills
- Disorganized thinking symptoms
- Substance abuse test
Brain imaging and function
Your doctor may order neuroimaging tests to evaluate the structure or function of the brain. Imaging technologies may include magnetic resonance imaging (matrix) or computed tomography scans that show detailed images of the brain.
These images can reveal changes in the brain in areas affected by Huntington’s disease. These changes may not occur early in the course of the disease. These tests can also be used to rule out other conditions that may be causing the symptoms.
Genetic counseling and testing
If symptoms point to Huntington’s disease, your doctor may recommend genetic testing to detect the defective gene.
This test can confirm the diagnosis. This test may be valid even if there is no known family health history of Huntington’s disease or the diagnosis of another family member has not been confirmed by genetic testing. However, the test cannot provide information that can help determine a treatment plan.
Before performing such a test, the genetic counselor will explain to you the benefits and disadvantages of learning about the test results. The genetic counselor can also answer your questions about the inheritance patterns of Huntington’s disease.
Predictive genetic testing
Genetic testing may be done if you have a family history of the disease but do not have symptoms. This is called a prediction test. The test cannot tell when the disease will begin or which symptoms will appear first.
Some people may want to have it done because they don’t know how stressful this test is. In this respect, it is very important to obtain accurate information about the testing process. Others may want to take such a test for risk before having children.
These tests should only be done after consulting a genetic counselor.
Huntington’s disease treatment
No treatment can change the course of Huntington’s disease. However, medications can reduce some movement symptoms and psychiatric disorders. Multiple interventions can help a person adapt to changes for a period of time.
Medications will likely change over the course of the disease, depending on the overall treatment goals. Also, medications that treat some symptoms can cause side effects that worsen other symptoms. Therefore, treatment goals will be regularly reviewed and updated by your doctor.
Medicines for movement disorders
To treat movement disorders, your prescription may include the following medications:
- Movement-controlling drugs: These drugs are used to suppress the involuntary jerking and writhing movements (this is called chorea- disease ) associated with Huntington’s disease. However, these drugs do not have any effect on the progression of the disease. Possible side effects include drowsiness, restlessness, and a risk of worsening or triggering depression or other psychiatric conditions.
- Antipsychotic drugs (neuroleptic): These have a side effect that suppresses movements. Therefore, they may be useful in the treatment of chorea huntington disease. However, these drugs can worsen involuntary contractions (dystonia), restlessness, and drowsiness.
- Other medications: There are many other medications that can help suppress movement disorders. However, their use is generally limited due to their side effects.
Medications for psychiatric disorders
Medications used to treat psychiatric disorders will vary depending on the disorders and symptoms. Possible treatments include:
- Antidepressants include drugs such as citalopram, escitalopram, fluoxetine, and sertraline. These drugs may also have an impact on the treatment of obsessive compulsive disorder. Side effects include nausea, diarrhea, drowsiness, and low blood pressure.
- Antipsychotic drugs such as quetiapine, risperidone, and olanzapine can suppress symptoms of severe emotional outbursts, mood disorders, or psychosis. However, these drugs can cause different types of movement disorders.
- Mood-stabilizing medications that may help prevent the high and low moods associated with bipolar disorder include anticonvulsants (antiepileptic drugs) such as divalproex, carbamazepine, and lamotrigine.
Remember, your doctor will decide which medicine to take and how.
In the psychotherapy phase; It could be a team of psychotherapists, psychiatrists, psychologists, and clinical social workers. Experts; They can provide therapy to help with behavioral problems, develop coping strategies, manage expectations during disease progression, and facilitate effective communication between family members.
Huntington’s disease; It can significantly impair the control of the mouth and throat muscles necessary for speech, eating and swallowing. A speech therapist can help you improve your ability to speak clearly or learn to communicate with templates that show visual representations of everyday items and activities. Speech therapists can also help you reduce difficulties in eating and swallowing muscles.
Huntington’s disease and physical therapy
A physiotherapist to the concerned patient; can teach appropriate and safe exercises that increase strength, flexibility, balance and coordination. These exercises can help maintain mobility for as long as possible and reduce the risk of falls.
Instructions on proper posture and the use of supports to improve posture can help reduce the severity of some movement problems.
When using a walker or wheelchair is necessary, the physiotherapist can instruct on proper use of the device and posture. It can also adapt workouts to suit the new level of mobility.