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Huntington’s disease is an inherited that causes the gradual and progressive breakdown and death of cells in the brain. These cells are nerve cells and are responsible for carrying signals and impulses across the brain and outside the brain. The death and breakdown of these cells lead to the impairment of the mental abilities and mood of the affected person. Other symptoms presented by the patient include a deterioration in body coordination. The disease tends to get worse over time. Other symptoms that patients might present with as the disease worsens include the loss of the ability to speak, difficulty in movement, dementia and so on. These are just the general symptoms of the disease, as patients do present with various signs and symptoms. This disease is more prominent in people that are between the ages of 30 and 50. However, this disease can affect anyone, regardless of age. The main cause of the disease is not known yet, however, some factors have been identified to contribute significantly to the development of the disease. These factors are genetic and environmental. This disease is mostly inherited from parents. Statistics have shown that less than 10% of cases of Huntington’s disease develop as a new disease. Studies have shown that the disease mostly occurs due to the mutation of the Huntington’s gene. In addition, the disease is autosomal dominant, which implies that a child born to affected parents have a 50% chance of presenting with the disease. This disease is diagnosed by genetic testing. This can be done at any time, regardless of if the patient has presented with the disease or not. This is why it’s important for people with a family history of the disease to take their kids for genetic testing, as soon as possible. The earlier the disease is diagnosed, the better the prognosis would be. Huntington’s disease has no cured, although there are treatments and rehabilitation that would improve, and also slow down the progression of the disease. Researchers are working on ways to make stem cell useful in the treatment of the disease. This is because they are not associated with serious side effects.
What Are The Causes Of Huntington’s Disease?
Huntington’s disease causes a lot of disorders in the body. It impairs the movement, cognitive and mental state of patients. The signs and symptoms presented by patients differ from patient to patient. Below are some of the manifestations of the disease:
- Cognitive disorder: The cognitive abilities of a person affected with Huntington’s disease are significantly impaired. Examples of these disorders include the following:
- Difficulty in acquiring new knowledge and information.
- Patients do find it difficult in processing and expressing their thoughts.
- They manifest frequent outbursts and anxiety
- They become very irritable.
- They tend to become rigid with their thoughts and actions.
- They find it difficult focusing on tasks.
- They have trouble organizing and setting priorities.
- Movement disorder: Persons affected by this disease do present with an impairment in their movements. They have difficulties with voluntary movements. Below are some of the common movement problems patients might present with:
- Patients present with chorea. Chorea is a condition in which patients manifest writhing movements. Huntington’s disease used to be known as Chorea’s disease, because of this symptom.
- Abnormal and slow eye movements.
- Patients also present with an abnormal gait and posture.
- Impaired balance.
- Rigidity in the muscles: Patients do experience rigidity in their muscles, and might also have regular muscle contractures.
- Psychiatric disorders: Psychiatric disorders are the most prominent symptoms of Huntington’s disease. This occurs because of the progressive breakdown of the brain cells. Below are some of the signs and symptoms presented by patients:
- Isolation: Patients tend to isolate themselves. This could be a sign of depression.
- Sleep problems: Patient does present with sleep problems. Patients do mostly present with lack of sleep.
- Tiredness: Patients tend to get tired quickly, even without engaging in any form of task.
- Lack of emotion: Patients affected with this disease do present with a lack of empathy.
- Mania: Patients might display with maniac symptoms. Examples of these include impulsive behavior, elevated mood, and overactivity.
What Are the Causes of Huntington’s Disease?
Huntington’s disease occurs when due to the mutation of a gene. This gene is also referred to as the Huntington’s gene. It’s autosomal dominant, which means that it can be passed from parents to their children. A child born to parents affected with this disease have a 50% chance of being affected by the disease.
What Are the Complications of Huntington’s Disease?
Huntington’s disease does impair a lot of body functions. Some of these include mental, cognitive and psychiatric functions. This disease could also lead to depression. Some of the complications of this disease include the following:
- Infections: Patients may present with infections. An example of this is pneumonia.
- Injuries: This might occur due to falls. Patients do have impaired movements and gait.
- Inability to swallow: Patients might also find it difficult to swallow food.
How Is Huntington’s Disease Diagnosed?
The physician would examine the presenting signs and symptoms of the patient. In addition, the past medical and family history of the patient would also be taken. Below are some of the specific examination physicians usually carry out:
- Neurological examination: Physicians do examine the motor symptoms of the patient. This involves checking the reflexes, tone of the muscle, balance, coordination and so on. Some of the sensory symptoms that are examined also include the sense of touch, hearing and vision Lastly. The mental state of the patient is also checked. Physicians do this by observing the mood and asking some questions.
Stem Cell Therapy And Huntington’s Disease
The use of mesenchymal stem cells for the treatment of Huntington’s disease have shown to have a lot of potentials. Mesenchymal stem cells have some unique abilities. They can be extracted from many tissues of the body without having to undergo pain or anesthesia. They are capable of regeneration, tissue repair, and also regulate the immune system. The most important part of this is that they do not elicit an immune response when transplanted. This makes them crucial for the treatment of disease.
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.
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