Huntington's disease refers to the degenerative breakdown of the nerves and tissues of the brain. It causes the inability of performing movement and cognitive (thinking) activities for the impacted individual. The patients suffering from it may also find it difficult to learn new things and control emotions. The individuals affected by this disorder may also observe changes in their personality.
The intense level of this disease causes psychiatric symptoms. The individuals of age between 30 and 40 years are more likely to develop this disease. However, people of any age may suffer from it. This disease is referred to as juvenile Huntington's disease when it is developed to an individual of age lesser than 20 years.
Huntington's disease is a complicated disorder and may turn to be fatal if its symptoms are not treated on time. It is very important for you to visit your physician in case any of its symptoms are observed. An early treatment enhances the chances of recovery from the disease’s symptoms. The cause of the Huntington’s disease is meant to be the faulty gene of the DNA, which the patients might have inherited from their parents.
To add up, a gene is an informative component attached to every cell of the human body. Each cell of a human body has around 25000 genes within those. Each gene further has 23 pairs of chromosomes. A defective gene may affect the nervous system of the patient’s body. This results in an abnormality of the functionality of nerve tissues that control the activities of the brain and spinal cord.
Conclusively, you may understand the Huntington’s disease as a genetic disorder, which suppresses the mental and physical abilities of the impacted individuals. Note that individuals have a 50% tendency of adopting this disease from either of their parents. In America, around 30,000 individuals are suffering from this disease. The individuals from Japan, China, and Africa are least likely to adopt this disorder from their parents.
In case one of your parents would have suffered from this disease, you may undergo a genetic test to confirm if your body also has the similar gene causing the Huntington’s disease. Even if you have it in your body, you may live normally with it for so many years without observing any such symptoms.
But at some uncertain age of your life, you may observe those. Both males and females are equally likely to affect from the Huntington’s disease. Although, there is no cure for this disease. The patients of this disease may live from 15 to 20 years from when the symptoms are triggered. However, you may slightly change your lifestyle to avoid depression, cope up with the symptoms, and improve your life quality.
The common symptoms of the Huntington’s disease are mentioned below:
- Mood swing
- Gradual or sudden changes in the personality of the patient
- Facing difficulty in memorizing things and making judgments
- Uncontrollable movements of various parts of the body
- Unsteady and swaging walk
- Facing difficulty in swallowing food or water, at times chocking while swallowing food, water or even saliva
- Slowness in speaking
- Struggling to memorize words while speaking
- Sudden weight loss
- Difficulty in coordination
- Awkwardness of behaviour
- Being uncertain in most of the things
- Being over-emotional, frequent excitement, aggression, frustration, anger, moodiness, and stubbornness
- At times, no emotions like physical or mental cruelness or harshness
- Facing problem in concentrating on something
- Loss of short-term memory
- Being hesitant in talking to correspondents
- Dropping things (like a glass of water or pen) from hand
- Forgetting names of known ones
- Changes in the normal movement of body parts, like writing on a paper very slowly
- Frequent pulsation of body parts, especially of the head and face
- Excessive weakness in the body
- The rigidity of certain body muscles
- Loss of initiative skills
- Degraded organizational skills
- Loss of orientation in life
- Facing lots of difficulties in multitasking
The Huntington's disease is a genetic disorder caused by inheritance from the parents’ genes. It is a type of autosomal dominant disorder, in which the impacted individual would need only a single defective gene from the parents for adopting it. From the genes of the sex chromosomes, an individual may inherit two copies of every gene - one from each of the parents.
In case a parent suffers from a defective gene causing the Huntington’s disease, a copy of the same defective gene may be passed to the foetus. However, there are also chances that the foetus gets a healthy copy of the gene. This way, each child has 50% possibility of inheriting the defective gene from the parent(s) suffering from the Huntington's disease that causes it.
The gene causing the Huntington’s disease is known as the huntingtin gene, which is associated with the chromosome number 4 in our body. It functions to produce a viral protein known as huntingtin. This protein is required by the neurons, which are the nerve cells of our brain. The brain’s neurons use the huntingtin protein for the development of genetic sequences in the body before birth.
In case the foetus adopts the faulty huntingtin gene, the produced huntingtin protein malfunctions to repeat several genetic sequences. This may result in the development of damaged neurons in some parts of the brain, which causes the symptoms of the Huntington's disease at a certain stage of life.
As we have already discussed, the Huntington's disease is a genetic disorder. So, in case either of a couple has the family history of the Huntington's disease, they should consult with the doctor for genetic testing before conceiving a baby. This test confirms if an individual is carrying a defective huntingtin gene. In case the genetic test results positive for the presence of faulty huntingtin gene in either of them and the couple proceeds with the normal process of conceiving, there are chances that the resulted baby would also adopt the same defective gene.
Such a baby may also suffer from the symptoms of the Huntington’s disease. A good workaround is to undergo the in-vitro fertilization (IVF) procedure. In this process, the embryo is the first laboratory tested for the existence of the defective huntingtin gene. In case it is found free from such a gene, then only it is safely implanted into the uterus of the lady.
In case both the parents have a family history of the Huntington’s disease, they may look out for other options like using donor eggs or sperms. In another method, the eggs are extracted from the ovary and fertilized with the partner’s sperms in the laboratory. The resulted embryo is tested further for the existence of the huntingtin gene. Once found negative, then only it is implanted in the uterus of the woman.
Whenever the patient observes any unexpected change in the behaviour or in case any of the symptoms mentioned above are seen, the physician must be consulted immediately. The doctor will first physically examine the symptoms of the patient and family history related to the Huntington’s disease is also enquired.
If the Huntington’s disease is suspected, the individual suffering from the symptoms is referred to a neurologist. The following tests are prescribed for the confirmation of the Huntington’s disease:
- Psychiatric evaluation, which is the test performed by a psychiatrist to diagnose multiple factors such as emotional behaviour, judgemental skills, decision power and more.
- Magnetic Resonance Imaging (MRI) scan in which radiological pictures of the brain are captured for identifying the cause of the abnormal symptoms.
- CT scan of the brain, in which multiple X-ray pictures are captured in some stipulated time. The CT scan report figures out the reasons of abnormalities of the brain’s neurons.
- In some cases, a genetic testing is also prescribed to confirm the existence of the defective huntingtin gene in the patient’s body.
Unfortunately, there is no treatment available so far of the Huntington's disease. However, the doctors of various specialization, such as neurologist, psychiatrist, and general physician, may prescribe certain medications that may help you from getting relieved from the symptoms of this disorder.
The medication prescribed for the treatment of Huntington's disease must be closely monitored periodically. This is because some drugs used for treating some symptoms may worsen others as their side effects. Following are several medicines prescribed for relieving from the symptoms associated with the Huntington's disease:
- Tetrabenazine or Xenazine: It is prescribed for treating the movement disorders. This medicine suppresses the jerks and movements caused in the body as an impact of the Huntington's disease. Although this medicine is very effective in treating the aimed symptom, it may either worsen the psychiatric conditions or aggravates depression. It may also cause the patient to feel nausea, drowsiness, and restlessness.
- Antipsychotic Drugs: These medicines, such as Chlorpromazine, Haloperidol or Haldol, treat chorea. However, those may also suppress the movements of the body parts and result in rigidity in the muscles. There are some other medicines like Risperdal (Risperidone) or Seroquel (Quetiapine), used for the treatment of chorea caused by the Huntington's disease. But with each of those, the side effects must be monitored with the help of your doctor.
- Amantadine, Keppra (Levetiracetam) or Klonopin (Clonazepam): These medicines also treat chorea. However, their high dosage may worsen the cognitive impact, swelling in the legs and discolouration of the skin.
- Celexa (Citalopram), Lexapro (Escitalopram), Fluoxetine (Prozac or Sarafem) and Zoloft (Sertraline): These all are antidepressant medicines that may have side effects like diarrhoea, nausea, drowsiness, and lower blood pressure.
- Seroquel (Quetiapine), Risperdal (Risperidone) and Zyprexa (Olanzapine): These are the antipsychotic medicines that may produce movement disorders as their side effects.
Other than the medication part, the patient may visit a psychotherapist, or a psychiatrist to manage the irregulated behaviour, and communicate effectively with the friends, family members, colleagues, and other correspondents in the society. The speech therapist may teach the patient ways to improve the impaired speech if any.
Physical therapy would be helpful in improving the mobility of joints. The physical therapists would teach you certain exercises that you may practice at your home. Those would provide strength to your muscles, which would reduce your risk of falling during a walk. Rest above all, the patients of the Huntington's disease will have to adapt to the changes undergone in their body.
The Huntington’s disease is not fatal by itself. However, many of the symptoms associated with it may result in complications, which could be fatal. Few of those are discussed below:
- Since the patients of the Huntington's disease become incapable of performing normal tasks all of a sudden, it becomes very tough for many of them to adopt this change. They tend to suffer from isolation, depression and frustration.
- In extreme conditions, the patients suffer from weight loss and weaker immunity. This makes them more prone to catch infections like pneumonia and other diseases.
- Due to the inability of swallowing food properly, the patient may suffer from choking.
- In case the effect of this disease is on the face, the patient may find it very difficult to eat food. In this condition, the patient may be required to adopt a semi-liquid diet throughout the life.
- In extreme behavioural changes, the patient may become violent and could be a threat to the family members and other individuals.
- The difficulty in walking caused by weakness in legs may cause the patient to collapse on the floor, which could cause a fatal injury.
Myth 1: Only males of old age can suffer from the Huntington’s disease
Both males and females of any age group may suffer from the Huntington’s disease.
Myth 2: Only the daughters of mother affected by the Huntington’s disease may adopt it
Both the sons and daughters of either parent affected by the Huntington’s disease are equally likely to adopt this disorder.
Myth 3: The only symptoms of the Huntington’s disease are behavioural changes
There are lots of physical impacts of the Huntington’s disease other than the behavioural changes. Those may include weight loss, weakness, and more.
Myth 4: Huntington’s disease can be cured completely through medication
Once developed, the disease could not be cured completely. However, the patient is provided treatment to minimize the impact of various symptoms associated with it.
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