World Health Day is on April 7, 2021. To mark the occasion, MUSBA HASHMI speaks with DR RAJNISH KUMAR, who throws light on Huntington’s disease and explains why it is important to increase awareness about rare diseases

One of the many lessons that COVID has taught us is, of course, health is wealth. While many of us have started prioritising our overall wellbeing and has become more aware of the diseases that pose a threat on our health, there are still several diseases that failed to make it into our priority lists. One such disease, that is rare and dangerous too is Huntington’s disease.

It is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.

“Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. The symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it’s called juvenile Huntington’s disease. The symptoms are different and the disease may progress faster,” Dr Rajnish Kumar, Senior Consultant & Unit Head, Neurology, Paras Hospital  Gurugram, tells you.

When Huntington’s develops early, symptoms are somewhat different and the disease may progress faster. Medications are available to help manage the symptoms of the disease. “But treatments can’t prevent the physical, mental and behavioural decline associated with the condition,” Kumar adds.

No disease can occur out of the blue. Your body, always, gives red  flags when something is not right inside you. “Movement disorders like involuntary jerking or writhing movements (chorea), rigidity or muscle contracture (dystonia), slow or abnormal eye movements, impaired gait, posture and balance and difficulty with speech or swallowing are some of the signs and symptoms of the disease,” Kumar explains.

Cognitive disorders like difficulty organising, prioritising or focusing on tasks, lack of flexibility or the tendency to get stuck on a thought, behaviour or action (perseveration), lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity, lack of awareness of one’s own behaviours and abilities, slowness in processing thoughts or “finding” words and difficulty in learning new information are some of the other symptoms to look out for.

“Behavioural changes including difficulty in paying attention and rapid, significant drop in overall school performance. Physical changes including tremors or slight involuntary movements, frequent falls or clumsiness and seizures can also be seen in patients,” Kumar tells you.

A preliminary diagnosis of Huntington’s disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history and neurological and psychiatric examinations. “Your doctor may also ask you to go for brain-imaging tests for assessing the structure or function of the brain. The imaging technologies may include MRI or CT scans that show detailed images of the brain. These images may reveal changes in the brain in areas affected by Huntington’s disease. However, these changes may not show up early in the course of the disease.

“Medications can lessen some symptoms of movement and psychiatric disorders, but there is no permanent treatment. Also, multiple interventions can help a person adapt to changes in his or her abilities for a certain amount of time. Physiotherapy and talk therapy can also help. But, treatments can’t prevent the physical, mental and behavioural decline associated with the condition,” he says.

With no cure in place, creating awareness of such diseases become all the more important. Living in oblivion will only add to the difficulties, the patients will face.

“The rare disease impacts functional abilities and deteriorates the condition of living. And, currently it has no cure — which is why raising awareness is important. Such persons should be taken to a neurologist and psychologist so that the diagnosis of the disease can happen. During the isolated times of COVID-19, we have to show our solidarity towards these patients and creating a sense of togetherness,” he says.

However, Huntington’s disease  itself does not necessarily put you at a higher risk of getting COVID-19, but patients are required to follow all the precautions and take extra care of themselves at all times. “People who are symptomatic may be in the high-risk category because of difficulties swallowing, clearing secretions from the lungs, and self-understanding of limitations. There may also be an increased risk of developing pneumonia as a result of being bedridden and undernourished. In general, individuals over age 60 are at the highest risk of developing a severe case of COVID-19. It is highly recommend to follow advice given by the Government which includes washing your hands regularly and maintain social distancing,” he says.