Huntington's disease is a disease caused by a significant breakdown of nerve cells in the brain. This rare disease is a genetic brain disorder. The inherited disease, which can be passed from parents to children, usually occurs after the 30s and 40s. While the symptoms of the disease vary from person to person, it progresses over time and causes serious physical and mental problems.
While the disease can occur at any age, when it occurs in the 20s it is known as "Young Huntington's Disease". If it occurs at an early age, the symptoms manifest themselves differently and progress rapidly. Although there is no cure for the disease, there are a number of medications and treatment methods to reduce its progression and effects.
What are the Symptoms of Huntington's Disease?
Symptoms vary depending on the condition of the disease and the person. The order of symptoms may also differ according to the patient. Symptoms may appear at the age of 30-40. However, the disease, which can manifest itself at any age, can often occur with movement disorders. If Huntington's Disease Symptoms are shown in 3 stages, they can be listed as follows:
Early Stage
In the early stages, symptoms may be weak and not understood. It may be difficult for the individual to learn new information. Decision-making mechanisms are impaired and he/she cannot make decisions. Some memory loss may occur. Clumsiness may increase. Sleep problems occur and eye movements are abnormal. Fatigue is also at the forefront.
Middle Stage
In the middle stages of the disease, problems become more pronounced. There are problems in daily life and convulsions increase. The person has difficulty with their movements and may often drop anything they are holding in their hands. They may fall with loss of balance and have difficulty walking. Memory loss becomes increasingly evident. Personality changes are seen due to the effect on the brain. The person loses weight while having difficulty swallowing and breathing. Psychological problems such as obsessive-compulsive and bipolar disorder occur. The person may also experience a desire to die.
Progressing Late Stage
In the late stages, the disease takes over the brain, severely affecting all functions and the person loses the ability to speak. He/she cannot swallow anything and cannot go about his/her daily life without help.
In addition, the disease can also develop in childhood and progresses much faster in these periods and can cause problems with walking. The person may experience some concentration disorders and clumsiness. People who may experience failure in the education process may experience tremors and behavioral disorders.
What are the Causes of Huntington's Disease?
The most effective factor among the causes of the disease is that it is a genetic disorder. It is seen due to mutation in genes. Almost all cases of the disease are due to familial transmission.
The disease occurs in the person after the faulty transfer of the gene. With the examination of the possibilities, people who have this disease in their family can be seen as a 50 percent risk factor.
However, there is also the possibility that the mutation that occurs over time in the genes of the family and in people who do not have this problem in their family may cause the disease.
How is Huntington's Disease Diagnosed?
In terms of diagnosing the disease, the first question is whether this disease has been diagnosed before in the person's family. If it is not known whether there is a family history of this disease, the symptoms that occur in the person are examined.
The patient's history is listened to and symptoms are observed depending on the problems they are experiencing. Some memory and psychological symptoms such as decision-making, balance, concentration, reflexes are observed to try to diagnose the disease.
In particular, involuntary movements such as convulsions and twisting are observed. After these procedures performed by the specialist doctor, some tests and examinations are applied to the person. It can be determined by genetic testing and some imaging techniques (such as MRI and CT). This disease, which is usually diagnosed after checking the DNA of the person, may not be seen in genetic tests in some cases and genetic tests may be requested from the parents.
Huntington's Disease Treatment
Huntington's disease is an incurable disease. The methods used in the treatment of the disease are aimed at relaxing the person and alleviating the symptoms they experience.
Treatments can be applied for the physical, emotional and mental problems experienced by the person. However, these applications are only aimed at alleviating the problems. In the treatment of the condition, which is a genetic and hereditary disease, a number of methods such as physical therapy, psychological support and antidepressants can be used.
The patient accepts the treatment that the doctor deems necessary and tries to make his/her life easier. The dosage of medication prescribed by the doctor is also decided by the specialist physician.
As the symptoms of the disease vary from person to person, the treatment process may also vary depending on the condition of the disease and the person. People with speech difficulties can benefit from language therapy applications or speech therapy. These therapies can reduce the impact of swallowing and speech difficulties.
Exercises are very important for patients. By adopting a healthy diet and lifestyle and moving around, it can be effective in alleviating symptoms and reducing problems such as walking and balance.
In addition, some assistive devices can be used to support movement in the future. The person can use sound-sensitive lamps and similar items to help in the home environment.