Huntington’s Disease: The Genetic Brain Decay
Huntington’s disease poses a threat to the brain—the core governing system of sensation, intellectual ability, nerve-related tasks, emotions, cognitive skills, physical mobility, and so on. This neurological illness enters the grey matter, impairing mental functioning and affecting daily living. Dr Vinaya V. Bhandari and Dr Chirag Gupta, consultant neurologists, have all of the information
By : Pramita Bose
Update: 2024-11-26 18:40 GMT
The health landscape is already grappling with a slew of neurological disorders like cerebral palsy, dementia, Alzeimer’s, Parkinson’s and so on. The latest to haunt the brain and its nerve cells is Huntington’s disease (HD). But what is it actually?
Decoding HD
HD is a neurological condition that affects the brain, inducing the neurons or nerve cells to decompose and get defunct over time. As a result, this adversely impacts mental health and vital cognitive skills like voluntary body movement, memory, thinking capacity, behavioural patterns and personality traits. “Well, to put it in simple terms, just imagine your brain to be a complex computer, and Huntington’s disease a technical glitch that disrupts the way it works. It’s a progressive disorder that can cause problems with movement, remembering and emotions, thus making everyday tasks a challenge,” explains Dr Vinaya V. Bhandari, a consultant neurology and neuromuscular disorder specialist at Jaslok Hospital & Research Centre.
HD is a neurological condition that affects the brain, inducing the neurons or nerve cells to decompose and get defunct over time. As a result, this adversely impacts mental health and vital cognitive skills like voluntary body movement, memory, thinking capacity, behavioural patterns and personality traits. “Well, to put it in simple terms, just imagine your brain to be a complex computer, and Huntington’s disease a technical glitch that disrupts the way it works. It’s a progressive disorder that can cause problems with movement, remembering and emotions, thus making everyday tasks a challenge,” explains Dr Vinaya V. Bhandari, a consultant neurology and neuromuscular disorder specialist at Jaslok Hospital & Research Centre.
Dr Chirag Gupta, senior consultant neurologist, Fortis Greater Noida, depicts HD as “an inherited condition that causes brain cells to slowly lose function and die. It affects the cells in parts of your brain that regulate voluntary movement and memory.”
All in the Genes
As Huntington’s is widely described as a hereditary disease, Dr Bhandari suggests, “HD is like a genetic puzzle piece that can be passed down from parents to children.” Talking us through the condition, she highlights the percentage that reflects the extent of transmission of the disease from parents to their offspring. “It’s like flipping a fair coin probability. I mean each child of a parent with HD has a 50% chance of getting the mutated gene. While Huntington’s can affect people of any age — be it children or adults — symptoms usually appear between 30 and 50 years,” she informs.
All in the Genes
As Huntington’s is widely described as a hereditary disease, Dr Bhandari suggests, “HD is like a genetic puzzle piece that can be passed down from parents to children.” Talking us through the condition, she highlights the percentage that reflects the extent of transmission of the disease from parents to their offspring. “It’s like flipping a fair coin probability. I mean each child of a parent with HD has a 50% chance of getting the mutated gene. While Huntington’s can affect people of any age — be it children or adults — symptoms usually appear between 30 and 50 years,” she informs.
Incidentally, HD affects an estimated 3 to 7 of every 100,000 people andis mostlyfound in descendants of European ancestry.
Palliative Care
People with impaired cognitive capabilities and clumsiness have to embrace a difficult lifestyle for survival. But some basic remedial measures can be taken during the treatment process of HD patients to control the problem and prevent it from deteriorating. “While there’s no cure for HD, there are ways to manage symptoms and improve the overall quality of life. Medications, physical therapy, occupational therapy and speech therapy can help address this crisis. A healthy diet and regular exercise can also make a big difference,” recommends Dr Bhandari.
Shift in Personality
Many patients even show signs of behavioural changes and altered personality attributes due to this neurological ailment. “HD can instigate drastic changes in behaviour, such as irritability, depression, obsessive compulsive disease, suicidal ideation and anxiety. Occurrence of these changes can be taxing for patients and frustrating for their loved ones, but with the right support and care, it’s possible to manage such setbacks,” assures the neurologist.
No Road to Recovery
Is it possible to heal Huntington’s disease? Well, that’s the million dollar question the medical community is racking its brain over to seek answers to. “Unfortunately, there’s no antidote to beat HD or any corrective measure registered yet to counteract its harmful effects. However, researchers are working hard to find a solution to get rid of this malady,” confirms Dr Bhandari.
Palliative Care
People with impaired cognitive capabilities and clumsiness have to embrace a difficult lifestyle for survival. But some basic remedial measures can be taken during the treatment process of HD patients to control the problem and prevent it from deteriorating. “While there’s no cure for HD, there are ways to manage symptoms and improve the overall quality of life. Medications, physical therapy, occupational therapy and speech therapy can help address this crisis. A healthy diet and regular exercise can also make a big difference,” recommends Dr Bhandari.
Shift in Personality
Many patients even show signs of behavioural changes and altered personality attributes due to this neurological ailment. “HD can instigate drastic changes in behaviour, such as irritability, depression, obsessive compulsive disease, suicidal ideation and anxiety. Occurrence of these changes can be taxing for patients and frustrating for their loved ones, but with the right support and care, it’s possible to manage such setbacks,” assures the neurologist.
No Road to Recovery
Is it possible to heal Huntington’s disease? Well, that’s the million dollar question the medical community is racking its brain over to seek answers to. “Unfortunately, there’s no antidote to beat HD or any corrective measure registered yet to counteract its harmful effects. However, researchers are working hard to find a solution to get rid of this malady,” confirms Dr Bhandari.
Dr Gupta asks patients to exercise caution if they think of settling down and living a family life. “See, there’s no known technique or procedure to prevent, slow down or reduce the risk of Huntington’s disease. If someone is contemplating marriage and planning to expand his/her family, I’d rather suggest that he/she speak to a genetic counsellor about genetic testing to understand themaximum chances of having a child with a genetic condition,” he alerts.
The Trigger
The culprit behind HD is a tiny snag in human DNA (Deoxyribonucleic Acid), which is a mutated HTT (Huntingtin. Mutations or genetic changes in this Huntingtin gene causes Huntington’s disease, the neurodegenerative brain disorder) gene. “This gene goes haywire, producing a faulty protein that starts causing trouble in your brain cells. It’s kind of like a recipe gone wrong,” reports Dr Bhandari.
Indications
Symptoms of HD can be like a rollercoaster ride - both unpredictable and challenging.
It affects a patient both physically and mentally.The tell-tale signs include:
l Involuntary movements or uncontrolled jerks and twitching (chorea)
l Difficulty with coordination (ataxia)
l Trouble walking, difficulty swallowing (dysphagia)
l Slurred speech
l Cognitive decline like trouble with memory, focus and multitasking
l Depression and irritability
l Emotional changes like mood swings.
Complications
It affects a patient both physically and mentally.The tell-tale signs include:
l Involuntary movements or uncontrolled jerks and twitching (chorea)
l Difficulty with coordination (ataxia)
l Trouble walking, difficulty swallowing (dysphagia)
l Slurred speech
l Cognitive decline like trouble with memory, focus and multitasking
l Depression and irritability
l Emotional changes like mood swings.
Complications
A host of HD complications could include worsening of symptoms like:
l Dementia (loss of brain function, memory loss, personality changes)
l Physical injury from awkward movements or falls
l Inability to walk without external help or support
l Infections (pneumonia)
l Seizures (early onset)
l Difficulty swallowing, eating or drinking (malnutrition)
l Dementia (loss of brain function, memory loss, personality changes)
l Physical injury from awkward movements or falls
l Inability to walk without external help or support
l Infections (pneumonia)
l Seizures (early onset)
l Difficulty swallowing, eating or drinking (malnutrition)