Huntington's Disease Treatment & Symptoms

Expert Huntington's Disease Treatment in Delhi

What is Huntington's Disease ?

Huntington’s disease (HD) is a progressive neurodegenerative disorder that impacts movement, cognition, and mood. It is an inherited condition that causes the gradual breakdown of nerve cells in the brain.

Causes of Huntington's Disease

Genetic Mutation: HD is caused by a mutation in the HTT gene, located on chromosome 4.
CAG Trinucleotide Repeat: This mutation involves an abnormal expansion of a DNA segment called a CAG trinucleotide repeat.
- Normally, the CAG segment is repeated 10 to 35 times.
- In people with HD, it is repeated 36 or more times. The more repeats, the earlier symptoms tend to appear and the more severe the disease can be.
Abnormal Huntingtin Protein: This extended CAG segment leads to the production of an abnormally long huntingtin protein. This elongated protein is then cut into smaller, toxic fragments that accumulate in neurons, disrupting their normal function and eventually leading to their death in certain brain areas.
Inheritance: HD is an autosomal dominant disorder. This means that if you inherit just one copy of the mutated gene from either parent, you will develop the disease. If a parent has HD, each of their children has a 50% chance of inheriting the mutated gene and thus the disease.

Symptoms of Huntington's Disease

Symptoms typically appear between ages 30 and 50, but can emerge earlier (juvenile HD) or later. They worsen over time and can include:-Movement Disorders

Chorea: Involuntary jerking or writhing movements affecting the arms, legs, face, and tongue.
Muscle rigidity or contracture.
Slow or unusual eye movements.
Trouble with walking, balance, and coordination (ataxia).
Difficulty with speech and swallowing (dysphagia).
Difficulty with voluntary movements, which can be more impactful than the involuntary movements.

Cognitive Conditions

Difficulty organizing, prioritizing, or focusing on tasks.
Memory problems.
Lack of flexibility or getting “stuck” on a thought or action (perseveration).
Slowness in processing thoughts or finding words.
Difficulty with decision-making and reasoning.
Eventually, cognitive decline can progress to dementia.
Psychiatric and Behavioral Changes:
Irritability, sadness, or apathy.
Depression (often due to brain changes, not just a reaction to the disease).
Anxiety.
Mood swings.
Lack of impulse control (leading to outbursts, acting without thinking, etc.).
Social withdrawal.
Trouble sleeping.
Fatigue and loss of energy.
Thoughts of death, dying, or suicide (suicide risk is elevated in HD).
In some cases, hallucinations, paranoia, and psychosis.

Diagnosis

Diagnosis often involves a neurological exam and a genetic test, which can confirm the presence of the expanded CAG repeat in the HTT gene. Genetic counseling is crucial before and after testing to help individuals understand the implications.

Treatment

Currently, there is no cure for Huntington’s disease, and no treatments can stop or reverse its progression. Treatment focuses on managing symptoms and improving quality of life. This may include:-

Medications for Movement
- Medicines like tetrabenazine, deutetrabenazine, and valbenazine are approved to help suppress chorea.
- Other medications like benzodiazepines, valproic acid, and antipsychotics may also be used to manage specific movement issues.
- For those with Parkinson’s-like symptoms (slow movements, rigidity), levodopa or dopamine agonists may be beneficial.
Medications for Mental Health:
- Antidepressants (e.g., SSRIs) for depression and anxiety.
- Antipsychotic medications (e.g., quetiapine, olanzapine) for violent outbursts, agitation, hallucinations, or delusions.
- Mood stabilizers (e.g., valproic acid, carbamazepine) for mood swings.
Therapies and Support
- Psychotherapy: To help with behavioral symptoms and emotional well-being.
- Physical therapy: To help with movement, balance, and maintaining mobility.
- Occupational therapy: To help adapt to changes in abilities and maintain independence in daily activities.
- Speech therapy: To address difficulties with speech and swallowing.
- Nutritional support: As swallowing difficulties can lead to weight loss and malnutrition.

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