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Juvenile Huntington Disease (HD) is a kind of Huntington disease (A genetic disease which results in the death of brain cells (National Institute of neurological disorders and stroke, n.d.)) that affects mostly the children. It is a progressive disorder in which the brain cells of a particular area will keep on damaged as the child grows. Such brain damage often results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances (National center for advancing translational sciences, n.d.). This paper briefly explains the symptoms, causes, diagnosis, and treatment options for this disease.
Muscle rigidity (Inability of muscles to become flexible), abnormality of eye movement, slow movements and cerebellar atrophy (deterioration of neurons in the area of the brain that controls muscle coordination and balance) are some of the major symptoms of Juvenile Huntington Disease (National center for advancing translational sciences, n.d.). Muscle rigidity may results in immense muscle pain to the victim of this disease. On the other hand, cerebellar atrophy prevents the victims from keeping a balance while moving from one place to another. The victims of this disease may exhibit problems in writing something using their hands. In other words, the symptoms of Parkinson’s disease are quite similar to that of the Juvenile Huntington Disease. Seizures and mental problems are some of the other noticeable symptoms of this disease (National Institute of neurological disorders and stroke, n.d.).
Personality changes, changes in behavior, poor judgment, slow responses to instructions, poor school performance, difficulty in learning, and the inability to recollect things that learned previously are some of the other symptoms of Juvenile Huntington Disease (Huntington Society of Canada, 2016). The victims of this disease may show gradual changes in their behavior and personality. It should be noted that the brain cells get damaged gradually for this type of patients. Based on the extent of damage suffered by the brain cells, the symptoms of this disease will be varied.
The exact causes of Juvenile Huntington Disease are still unknown to medical science. Generally, it is accepted that some genetic problems are the villains in causing this disease. It is believed that the changes in the HTT gene are causing this problem. This gene is responsible for giving instructions for the making of huntingtin, a protein in the body. The exact functioning of this protein is still unknown to the medical world. It is assumed that this protein is instrumental in the functioning of neurons in the brain. When this protein failed to function properly, the brain neurons associated with it also malfunction (Genetics Home Reference, n.d.).
A DNA segment known as CAG trinucleotide repeat is instrumental in the HTT mutation. The victims of this disease will experience a larger number of CAG repeats in a particular area of the brain which is governed by the Huntington gene. The exact reason for the abnormal CAG repeats among children with this disease is still unknown. It is assumed that the DNA from the unaffected parent might somehow contribute to the development of juvenile HD (Liou, 2010).
Since the symptoms of this disease are similar to that of many other genetic problems, only an experienced neurologist can diagnose this disease properly. The neurologist needs accurate information about the intellectual and emotional problems of the patient as well as the family history of the patient before making any conclusions. Clinical examination of the ears, eyes, muscles, and movements of the victim is necessary to confirm this disease. Brain imaging, Computerized Tomography (CT) scan, and Magnetic Resonance Imaging (MRI) scan are usually performed to rule out other conditions. Finally, a genetic testing is necessary to confirm this disease. However, a genetic test will not be performed initially. It will be performed only after the repeated evaluation of the child for the confirmation of this disease. The physician will order the genetic test only if the initial symptoms have remained or progressed. The genetic test is 100% accurate and hence the disease can be confirmed without any doubt after the genetic test (Nance, 2007).
There is no cure for Juvenile Huntington Disease. However, it is possible to reduce the symptoms and complications of this disease with the help of some medications and therapies. Antipsychotics, antidepressants, tranquilizers and mood stabilizers are usually used in the treatment of this disease. These medications will help the patient to reduce hallucinations, delusions, violent outbursts, depression, obsessive-compulsive behavior etc (Swierzewski, 2015). Since most of these medicines have the ability to generate undesired side effects, physicians will prescribe these medications cautiously. Behavioral therapies such as cognitive behavior therapy are also used to reduce the symptoms of this disease (Silver, 2003).
Juvenile Huntington Disease is a genetic disease which is incurable. The exact reason for this disease is still unknown even though the role of heredity in causing this disease is confirmed. Muscle rigidity, abnormality of eye movement, slow movements, and cerebellar atrophy are some of the major symptoms of this disease. The symptoms of this disease can be managed with the help of medications and behavioral therapies.
- Genetics Home Reference. (n.d.). Huntington disease. Huntington society of Canada. (2016). What is Juvenile Huntington disease?
- Liou, S. (2010, June). Juvenile Huntington’s Disease.
- Nance, M.(2007). A guide for families and caregivers. The Juvenile HD Handbook. National institute of neurological disorders and stroke. (n.d.). Huntington’s Disease Information Page.
- National center for advancing translational sciences. (n.d.). Juvenile Huntington disease. Swierzewski, S.J. (2015, September 22). Huntington’s Disease.
- Silver, A. (2003). Cognitive-behavioural therapy with a Huntington’s gene positive patient. Patient Education Counselling, 49(2), 133-138.