Huntington's disease is caused by a genetic disorder that is passed from parents to children. The presence of Huntington's disease in the family means that the lower lineages are at risk. The course of the disease may vary from person to person, and the age at which symptoms appear also varies. But regardless of age, the symptoms get worse day by day. Since there is currently no definitive treatment method for Huntington's disease, drug therapies are used to reduce the symptoms. Thus, it is aimed to slow down the course of the disease. In the diagnosis and treatment process, a number of tests and treatment methods are applied together. Because the range of symptoms caused by Huntington's disease is quite wide.
Ingredients
What is Huntington's Disease?
What are the Symptoms of Huntington's Disease?
Symptoms of Cognitive Impairment in Huntington's Disease
Psychiatric Symptoms in Huntington's Disease
What are the Causes of Huntington's Disease?
What are the Types of Huntington's Disease Diseases?
How is Huntington's Disease Diagnosed?
Genetic Testing for Huntington's Disease
What are the Treatment Methods for Huntington's Disease?
What is Huntington's Disease?
Huntington's disease is a disease caused by a severe breakdown (degeneration) of nerve cells in the brain. It occurs quite rarely and is based on hereditary causes. Huntington's disease leads to the affecting of all the functional abilities of individuals that are necessary for them to continue their lives. These effects cause the appearance of cognitive (thinking), movement and psychiatric disorders. The symptoms of the disease are of a nature that can occur at any age. But the symptoms progress noticeably, usually after the thirties and forties. The development of Huntington's disease before the age of 20 is defined as “Teenage Huntington's Disease”. Huntington's disease, which develops early, shows different symptoms and makes faster progress. Brain changes such as abnormal involuntary movements, a decrease in thinking and reasoning abilities, irritability and depression increase its effect from day to day. This leads to the patient becoming worse every day. Various medications are used to reduce the effect of the disease. However, it is not possible to cure the disease. No matter how slowly it progresses, the course of the disease causes the patient's health condition to deteriorate day by day.
What are the Symptoms of Huntington's Disease?
Huntington's disease usually leads to movement problems, psychiatric and cognitive disorders with a wide range of symptoms. The order in which the symptoms will appear differs from patient to patient. Symptoms of the disease usually appear in the 30s and 40s. But symptoms may also present for the first time in a 2-year-old baby or an 80-year-old elderly person. The symptoms of movement disorder that may be observed may be:
Squirming movements or involuntary jerks,
November November Muscle stiffness or muscle problems,
Abnormal or slow eye movements,
Posture, balance and gait disorders,
Difficulty swallowing or speaking,
Symptoms of Cognitive Impairment in Huntington's Disease
Disorders also occur in voluntary movements, which prevent the activities that the individual wants to do. For this reason, it negatively affects the patient's ability to communicate and self-sufficiency. Among the symptoms of cognitive Deciency may include::
Difficulty focusing and planning,
Getting stuck in a behavior, action or thought,
Acting without thinking and inconsistencies in sexual abilities,
Lack of awareness about the patient's own abilities and behaviors,
Thinking disorder or inability to find the right word,
Difficulty in obtaining new information,
Psychiatric Symptoms in Huntington's Disease
Psychiatric disorders can be sorted as follows::
Apathy, sadness or irritability,
Socially pacification,
Insomnia,
Loss of energy and constant feeling of fatigue,
Do not think about suicide and death often.
What are the Causes of Huntington's Disease?
Huntington's disease occurs due to an inherited malfunction of a single gene. It is a disease that shows an autosomal dominant transition. This means that it will be enough for an individual to have only one copy of the non-typical gene to become ill. Genes other than sex hormones are inherited by an individual in two copies. A copy of the gene is transferred to the individual from both the mother and the father. Therefore, the probability that a child in the family will receive the unhealthy gene is 50 percent. The transfer of an unhealthy gene to a child is the only condition for the occurrence of Huntington's disease. Apart from this, it is not possible to detect Huntington's disease in an individual. In other words, there is no possibility of transmitting the disease to another individual except through genetic pathways. Therefore, it is important for sick individuals to be aware of the transmission status of the disease when biologically adopting. Otherwise, the probability that another individual with Huntington's disease will come into the world is quite high.
What are the Types of Huntington's Disease Diseases?
The process related to the onset and progression of Huntington's disease in young people is different compared to adults. For this reason, huntington's disease that occurs in teenagers is called “Juvenile Huntington's Disease”. The symptoms of juvenile huntington's disease that occur in teenagers can be more severe and more fatal. Difficulty in paying attention, rapid, significant decreases in overall school performance and learning capacity, unexpected behavioral disorders can be listed as symptoms related to behavioral changes. The physical changes are as follows:
Gait disorders caused by November's stiffening and contraction of muscles, especially in young children,
Involuntary movements and, accordingly, concussions,
Again, frequent falls or clumsiness due to involuntary November contraction of the muscles,
Seizures
Parents should definitely consult a doctor if they see symptoms similar to Huntington's disease in children's movements or cognitive status. Thus, the slow progression of symptoms can be ensured.
How is Huntington's Disease Diagnosed?
Preliminary diagnosis of Huntington's disease is possible with a 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 November muscle strength, reflexes and balance are evaluated. All sensory symptoms are detected, including the sense of sight, hearing and touch. Observations are made on psychiatric symptoms such as the patient's mental state and mood. In addition, the neurologist can perform tests on neuropsychological abilities such as memory, reasoning, mental agility, language skills and spatial reasoning.
Genetic Testing for Huntington's Disease
Psychiatric evaluations such as substance abuse, emotional state, judgment quality, behavioral states, coping abilities and thinking abilities can also be applied for diagnosis. Along with all these evaluations, medical imaging tests are used to image the structure of the brain. MRI and CT scans are very convenient for imaging the brain structure. These images are useful in viewing the changes of the regions affected by Huntington's disease. In the early stages, any negativity may not be observed in the brain. However, the evaluation of images together with other symptoms can be effective in making the diagnosis of the disease more accurate. In addition, a test called a predictive genetic test can be applied. This test is available if there is a family history of the disease, but there are no symptoms. The test cannot detect when the symptoms of the disease will appear. For its implementation, a genetic consultant must also give approval. For this reason, it is not included among the priority tests. Dec.
What are the Treatment Methods for Huntington's Disease?
There is no treatment method yet that will change the course of Huntington's disease. However, some medications can reduce some psychiatric and movement disorders. A combination of medications can be used to slow the progression of symptoms. The medications used vary depending on the course of the disease. Because side effects of medications that worsen some symptoms may occur. This means that the dose or type of medication administered will constantly change.
A number of medications are used in the treatment to suppress involuntary shaking and convulsive movements. But these drugs can cause increased restlessness and depression. Again, antipsychotic drugs can be added to treatment in order to suppress these side effects. Antipsychotics can also cause the triggering of restlessness and drowsiness. Medications should be used under the constant supervision of a doctor, as there is a possibility of triggering symptoms. Antidepressants are recommended for psychiatric disorders. However, symptoms such as nausea, vomiting, diarrhea, drowsiness and low blood pressure may occur due to these medications. In order to cope with behavioral problems, the patient may need to undergo psychotherapy. Speech therapy and physical therapy are also among the treatment methods used. Dec. The applied treatments are only intended to ensure that the patient can cope with Huntington's disease during his/her lifetime. Regaining the patient's health is not possible with current treatment methods.
If you are also showing symptoms of Huntington's disease, or if you know someone in your family who has Huntington's disease, you should get checked out without wasting time. So you can get support on this issue and plan your treatment.