Huntington’s disease is a hereditary disease in which the cells of the brain deteriorate and break down slowly. This might eventually lead to the death of the cells. Patients present with various symptoms, however, some patients are asymptomatic, especially in the initial stages of the disease. Some of the signs and symptoms of this disease include a lack of coordination, followed by an unstable gait. Patients do present with more severe manifestations, as the disease advances. Symptoms such as jerky, uncoordinated body movement become more obvious. In addition, the symptoms might get so severe that the patient finds it difficult to communicate. Patients might also present with dementia. They usually start manifesting signs and symptoms between the ages of 30 and 50. Huntington’s disease is also associated with a condition called “anticipation.” This is a condition in which the disease develops earlier in life, in each successive generation. The main cause of this disease is genetics. Studies have shown that it occurs as a result of mutation. It’s caused by an autosomal dominant mutation in a gene, known as the Huntingtin’s gene. Physicians diagnose this disease by carrying out genetic testing on the patient. This can be done at any time, especially when the individual has a family history of developing the disease. Huntington’s disease has no cure yet although the symptoms of the disease can be improved with some medications and special therapies. This disease can also lead to complications. Examples of conditions that can occur as a result of this disease include pneumonia, heart disease, and physical injuries sustained as a result of sudden falls. A lot of suicide cases have also been reported. Researchers are working on ways to make use of shockwave therapy in the treatment of the disease.
What Are the Early Signs of Huntington’s Disease?
Huntington’s disease present with various forms of signs and symptoms. This disease does affect the movement, cognitive and mental state of the patients. Below are some of the common signs and symptoms presented by persons affected with this disease;
- Movement disorders: Persons affected with this disease do have an impairment in the way they move, and also involuntary Examples of the movement disorders include the following;
- Jerking movements: This condition is also known as chorea. Chorea means “dancing.” They do present with writhing movements of their body, such as their hands. The affected extremity would appear like it’s dancing.
- Abnormal eye movements: Huntington’s disease patients do present with abnormal and slow eye movements.
- Impaired posture: Persons affected with this disease also presents with poor posture and balance. They also find it difficult walking with a normal gait.
- Speech problems: Patients do have difficulties when speaking. In addition, this disease also impairs swallowing.
- Cognitive disorders: Huntington’s disease affects the cognitive ability of patients. Below are some of the signs and symptoms;
- Patients might it difficult focusing on their work. In addition, they usually do have problems with organizing and prioritizing things, especially when it comes to work and their daily life.
- They do have troubles learning new things.
- Persons affected with this disease tend to lose the ability to control their emotions and what they say. They tend to speak provocative and unpalatable things.
- They find it difficult remembering words and organizing their thoughts.
- Patients also tend to lose their flexibility, especially when it comes to thinking, and acting.
- Mental disorders: Persons affected with this disease do present with some psychiatric problems. Examples of this include depression. There have been suggestions that this occurs due to the injury and degeneration of the brain cells. Below are some of the symptoms of this condition:
- Isolation: Persons affected with depression usually prefers to isolate themselves away from people.
- Weakness: Patients do feel tired continuously, even without doing any form of stressful activity.
- Lack of sleep: They also present with sleep problems.
- Suicidal thoughts: Suicide is one of the symptoms of severe depression. This can happen, especially when the disease is left unmanaged for a long time.
- Lack of emotions: They also tend to show a lack of apathy, towards people.
- Mania: This is a condition in which people present with overactivity and impulsive behavior.
- Bipolar disorder: Patients affected with the bipolar disorder do present with episodes of both depression and mania.
What Are The Causes Of Huntington’s Disease?
Huntington’s disease occurs as a result of the mutation of the Huntington’s gene. It’s an autosomal dominant disease. This implies that a child born to a parent that has the disease has a 50% chance of also developing the disease.
What Are the Complications of Huntington’s Disease?
This disease usually doesn’t present with any symptoms at the initial stage. However, the disease has a gradual progression. Some of the complications associated with the disease include depression. Depression if not well managed, can lead to suicide. Other complications of the disease include the following;
- Infections: One of the most common infection in Huntington’s patient is pneumonia.
- Injuries: This occurs due to the difficulty walking, and impaired posture. This increases the risk of tripping and falling down.
- Difficulty in swallowing: Patients do find it difficult swallowing This might eventually lead to the loss of weight.
How Is Huntington’s Disease Currently Treated?
Huntington’s disease has no cure yet, however, there are some treatments that can be given to improving the symptoms of patients. Some of these are;
- Medication: Drugs are administered to help improve the movements of the patient. In addition, they should also help in improving the muscle stiffness and involuntary muscle contractions.
- Physiotherapy: This is done to assist the patient with learning how to control their movements. Some devices can also be employed in doing this.
- Speech therapy: This is done to help the patients improve their speech, and how to pronounce words clearly. This could also include improving swallowing troubles of patients.
References
Dumevska, B., McKernan, R., Hu, J. and Schmidt, U. (2016). Derivation of Huntington Disease affected Genea089 human embryonic stem cell line. Stem Cell Research, 16(2), pp.434-436.
Feigin, A. (2013). Redefining the genetic risk for Huntington disease. Neurology, 80(22), pp.2004-2005.
Millichap, J. (2012). Brain Growth in Children at Risk for Huntington Disease. Pediatric Neurology Briefs, 26(10), p.80.
- Exercise: Exercises have been proven to be helpful in the treatment of this disease. Huntington’s disease patient who engages in physical activities has shown more improvements when compared to others.