Huntington’s Disease

Huntington ’s disease is a grave, genetic brain disorder affecting movement, behaviour and cognitive functioning  with no presently effectual treatment in sight. The affected person’s independent capacity to carry out mundane daily tasks even the basic walking, thinking, reasoning ability and talking are progressively impaired to a major extent. Such individuals slowly become totally dependent on others to take care of them causing immense turmoil emotionally, mentally, socially and economically on the lives of both the patient’s and their kin.

It was formerly known as ‘Huntington Chorea’ due to the uncontrolled movements made by the affected individual that appears to seem like erratic dancing. Huntington’s disease or HD is known to affect both the sexes in an equal manner and generally makes its presence felt during middle-age.

Occurrence of the disease is known to vary according to ethnic origin – persons having Asian or African heritage have a risk of one in ten lakh of developing the disease, while Caucasians have an even greater risk, i.e., seventy to hundred times higher.

Huntington’s Disease Symptoms:

Symptoms could surface in any age, though widely common amongst the age bracket of 35-55 years following which the symptoms would eventually worsen for one to two decades till the patient faces fatality.

A sign would be some aspect that the doctor would decipher like uncontrolled movements or appearance of rashes. A symptom would be what the affected person informs the doctor about, like giddiness or insomnia.

The manner in which the symptoms develop and which ones would appear initially differs in each case with some developing depression prior to ailing from problems related to motor skills.

Preliminary symptoms might formerly be either be ignored or attributed to some other reason by the majority of the patients and their kin as many are unaware that such a disease is present in their family. Symptoms would originally comprise of moodiness and weird or strange behaviour.

It is quite common for such affected individuals to go into denial mode and take longer spans of time to accept the diagnosis. The initial signs and symptoms that might be relevant in certain situations though might vary from person to person.

• Slightly unmanageable movements.
• Gaucheness.
• Staggering or tripping over.
• Some subtle signs of absence of emotion.
• Dearth of focussing capability and slight problems in concentrating.
• Drifting temporary memory.
• Depressive tendencies.
• Mood fluctuations – that might even comprise of rebellious, disruptive behaviour and aggressiveness.
• Unanticipated outbursts of fury.
• Personality traits like shiftless, unfocussed, languid and lack of any initiative hence appearing lazy.

As the disease progresses and becomes more chronic the symptoms would include:

• Slurred speech with distress experienced trying to express one’s thoughts.
• Loss in weight. Though most HD patients usually have normal dietetic intake, the mouth and diaphragm muscles improperly function, thus making eating an incredibly burdensome, exasperating and untidy experience.
• As the disease worsens, the person would find difficulty in while eating and would constantly spill food due to lack of coordination.
• As swallowing becomes increasingly difficult there are raised chances of chocking while ingesting fluids or solids. Even, thin consistency liquids like water could cause choking.
• Uninhibited bodily movements that is fidgety and jerky in nature and gradually become more frequent and with greater intensity.
• Ultimately, the movements might slow down due to the rigidity in the muscles.
• Emotional variations like obstinacy, moodiness, apathy, fury, aggressive tendencies and depressive tendencies.
• Cognitively, such people loose orientation, focus, organisational skills and initiative.
• In the later phases, the individual would need 24/7 nursing care. In several cases, such persons die due to pneumonia, choking or a weakened immune system leading to a host of infections.

Huntington’s Disease Causes:

• Genetic predisposition. A person whose parent has or had the disease has 50% likelihood of inheriting the flawed gene. Though 3% of affected persons have no apparent history.
• British researchers have detected elevated levels of protein IL-6 that causes inflammation to be present in the blood of the affected persons long before they were anticipated to start developing the nervous system symptoms of the disease. It is believed that the brain deposits of the mutant protein that leads to the disease known as Huntington lures an overactive immune response. As the immune cells that produce IL-6 additionally produce huntingtin, hence probably the mutant huntingtin could erroneously set those cells on assault mode all through the body. Hence, it is believed that timely intercession would aid in suppressing the IL-6 production thus staving off brain impediment.

Diagnosis & Tests:

• After examining the individual’s and his/her family history, and any current variations in emotional or intellectual makeup, a probable psychiatric evaluation would be recommended.
• At times certain imaging tests would be ordered like a computer tomography (CT) scan or Magnetic Resonance Imaging (MRI) scan for diagnosing any alterations in the brain structure and to exclude any other disorders.
• In the presence of a family history of the disease, a genetic testing would be recommended for corroborating the disease. In several countries the minimum age to be able to undergo genetic testing is eighteen years. In cases of exceptions like a medically grave condition, a minor would be allowed to undergo the test. Genetic counselling session is done following which two blood samples are taken during the process using which the DNA is extracted for analysis.
• During the eleventh week of gestation a genetic test is usually done to detect if the embryo has the flawed gene. If one’s partner has the flawed gene, then IVF or in-vitro fertilization is a probable option. During this the embryo is tested in the laboratory for its genetic constitution and implanted only after it clears the test.

Huntington’s Disease Treatment:

An incurable disease with no presently available treatment options for slowing it or reversing it, though there is on-going research that states that man-made molecules that selectively get in the way of the production of protein could halt human cells from producing anomalous molecules that lead to Huntington’s disease.

Some of the symptoms might be managed with the aid of medicines and therapies like:

• The FDA-approved Tetrabenazine (Xenazine) for treating jerkiness and uncontrollable movements. Though it has side effects like feeling drowsy, nauseous, restlessness, giddiness, depressive tendencies noted in fifteen percent of cases. Those detected with depressive tendencies particularly with suicidal thought process must not be given Tetrabenazine.
• At times, clonazepan (Klonopin), haloperidol and clozapine (Clorazil) are advised for controlling movements, aggressive outbursts and hallucinations though they might lead to sedation, alongside rigidness and inflexibility.
• Fluoxetine (Prozac, Sarafem), sertaline (Zoloft) and nortriptyline (Pamelor) might be advised for treating depressive tendencies and at times OCD or Obsessive Compulsive Disorders that are related to HD.
• For severe moodiness and emotional turmoil lithium (Eskalith, Lithobid) might be advised.
• Speech therapy for better communication skills.
• Physical and Occupational therapy for gaining better muscle control and litheness.
• The on-going though highly promising gene therapy.
• Remedial approach to fortify the antioxidant defences could aid in averting the advance of Huntington’s disease.

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