Huntington’s disease (HD)

Huntington’s disease (HD)

Huntington’s disease (HD) commonly referred to as a rare genetic neurodegenerative disorder that causes nerve cell breakdown in the brain over time. The mental and physical abilities of a person get deteriorated by the disease between their working years, for instance, between the age of 20 and 40. On average, the onset of HD is 40 years old. On occasion, the neuron number dies in putamen and Caudate, which in the brain make up the Dorsal Striatum; the area will suffer the loss of the brain tissue. The brain regions which are affected most have decreased Acetylcholine, Gaba, and increased levels of Dopamine.

The symptoms of HD include mood changes, involuntary movements, and the loss of the majority of motor control. People with HD have movements that are slow and snake-like or dance-like movements, eye movements that are abnormal, and poor coordination. It changes one’s personality by decreasing their mental capacity significantly, which in the long run, leads to the loss of memory. A person may also experience depression and dementia. Since the disease is a dominant, autosomal disorder, it means that a person needs only a copy of the gene that is defective to be the carrier of HD. Symptoms in individuals that are affected in addition to the confirmation in other members of the family during the process of the diagnosis are taken into account.

In most individuals, the Huntingtin (HTT) gene has a triplet repeat on chromosome 4. In a normal individual, C-A-G nucleotide is repeated in a row for about 10-35 times. In a situation of an individual with Huntington’s disease, the repeat goes past 36 times. C-A-G is a code for Glutamine, which is the amino acid. In other words, this means that individuals with Huntington’s disease in a row will have 36 Glutamines or more in Huntingtin protein. Not only is the Huntingtin protein affected by the C-A-G repetition, but it also affects the replication of the DNA. When the HTT gene is copied, it leads to the loss of track of the DNA polymerase on C-A-G and accidentally adds an excess of C-A-G hence becoming unstable because of the addition of more repeats. The expansion of the gene that was initially inherited means that an offspring is likely to inherit from the parent more repeats than the parent, and this will result at the beginning of earlier symptoms.

Both genders have an equal probability of getting affected by the disease because the gene is not located on any of the sex chromosomes. They both have equal chances of having offsprings that are affected because the gene is transmitted from the infected parent with the gene to the offspring and a 50% success rate of transferring to the rest of the offsprings. Furthermore, the symptoms differ both in their progression rate and the onset age..

The diagnosis an individual gets is based their answers to the questions asked by the physician; a physical checkup is conducted, psychiatric and neurological examinations, and reviewing of the family medical history. The areas to be checked are as follows; muscle strength, reflexes, coordination, muscle tone, sense of touch, balance, eye movement and vision, mood, hearing, reasoning, mental status, mental agility, and memory, among others.  Some psychiatric procedures also contribute to an individual’s overall diagnosis. A CT scan may, at times, be done to examine any changes or defects in one’s brain. If an individual experiences a more significant number of symptoms as in the case of a person who has Huntington’s disease, then a genetic test search for the gene that is defective is done. The counselor, before conducting the test, explains the drawbacks and benefits of learning the results of the test. The counselor for genetics answers questions regarding the patterns of inheritance of Huntington’s disease. For a person with a family that has HD history and shows no symptoms, a predictive genetic test is recommended for them. The results for the predictive genetic analysis have no benefit in treatment, and they do not indicate the beginning of the symptoms of the disease. The risk involved in this test is the stress involved in facing the deadly disease.

Huntington’s disease is divided into early, middle, and late stages. Indistinct changes are observed in the affected individual’s coordination, difficulty in thinking through problems, irritable or depressed mood, and chorea (involuntary body movements) in the early stage of Huntington’s disease. The effects may result in an individual working less than average, and during regular activities at home, an individual is less functional. During the middle stage, accomplishing activities is problematic because moving the body is a major issue. Speech becomes diminished, and swallowing too is a herculean task, and it may call for assistance from a pathologist for speech-language. Finally, in the last phase, an individual with HD is in the care of others entirely as the affected individual is unable to walk or talk anymore. Getting choked is a guarantee when drinking or eating something because of the inability to correctly swallow. They still have the ability to recognize family and friends, and understanding speech is not a problem. The demise of an individual with HD is mostly due to infection sickness or choking. It is so rare for a person to succumb to the disease itself, but the above conditions are the ones that lead to death.

No treatment or cure at this point for Huntington’s disease that can stop it from being deadly. Medications, however, can repress some symptoms hence making the person affected feel cozier. A physiotherapist teaches the affected person safe and appropriate exercises, which will help in enhancing flexibility, strength, coordination, and balance—these help in maintaining mobility as long as the individual can be and reduce the risk of falling. Appropriate posture instructions help in lessening the severity of problems involved in the movement. Speech therapy is recommended once an individual is diagnosed with the disease, as this will help in controlling and maintaining the muscles in the throat, tongue, and mouth. It will also aid in flexibility, coordination, and strength that the affected individual will later lose in their disease. The speech therapist helps the affected person by use of the devices of communication, for instance, pictures of activities and daily activities on board. In addition, they can also be of help in addressing difficulties in swallowing and eating muscles. Psychotherapy is helpful in issues to do with behavior and strategies to help one to cope up. Finally, occupational therapy helps the caregiver and an individual with tools and equipment necessary for preparing for assisted living when at home.

Treatment of Huntington’s disease can be done by some of the most popular medications for movement disorder, which include: Antipsychotic drugs, Tetrabenazine (Xenazine), and various other medicines. Extreme jerking as associated with HD can be prevented by Tetrabenazine. The effects of Tetrabenazine are depression and psychiatric conditions, and other effects are nausea, drowsiness, and restlessness. Involuntary body movements can be suppressed with Antipsychotic drugs; however, the side effects are increased rigidity in the muscles, and this is uncomfortable to the affected individual. Some drugs such as quetiapine (Seroquel) and risperidone (Risperdal) have side effects that are fewer; however, caution should be taken because they might make the symptoms worse.

On the other hand, we have psychiatric disorder medications, and they are Antidepressants – Celexa, Sertraline (Zoloft), and fluoxetine (Prozac, Sarafem); Antipsychotic drugs-risperidone (Risperdal), quetiapine (Seroquel) and olanzapine (Zyprexa); Drugs for stabilizing mood- lamotrigine (Lamictal), and carbamazepine (Carbatrol, Tegretol, Epitol).

30,000 Americans on approximation suffer from Huntington’s disease and 20,000 more at risk of getting this disorder. It is crystal clear that the damage that HD causes to an individual is fatal, especially those whose family is having a history of this disease or where the gene inherited resides. Social support is beneficial in making the disease’s 3 stages comfortable by making time for every individual that is involved. Since the discovery of which causes Huntington’s disease by professionals in the field of medicine in 1993, there has been advanced research on the condition with hopes of finding better cure and treatments.