Huntington’s disease (HD)

-


⚕️Sponsor of todays My Health Series  posts:⚕️

Huntington’s disease (HD) is a genetic, progressive brain disorder that causes uncontrolled movements, emotional changes, and cognitive decline. It is caused by a mutation in the HTT gene, leading to gradual damage of nerve cells (neurons) in the brain — especially in areas that control movement, emotion, and thinking.

It is sometimes called a “family disease” because every child of a parent with Huntington’s has a 50% chance of inheriting the defective gene.

🧬 Cause

  • Genetic mutation: Expansion of the CAG repeat in the HTT (huntingtin) gene on chromosome 4.

  • The normal gene has 10–35 repeats, but people with HD have 36 or more, causing the huntingtin protein to become toxic and damage neurons.

  • The disease is autosomal dominant, meaning only one copy of the defective gene is enough to cause it.

⚕️ When It Appears

  • Adult-onset Huntington’s disease: Symptoms usually begin between ages 30–50.

  • Juvenile-onset Huntington’s (rare): Starts before age 20; symptoms progress faster.

⚠️ Early Symptoms

Motor (Movement) Symptoms

  • Involuntary jerking or writhing (chorea)

  • Muscle problems like rigidity or contracture (dystonia)

  • Trouble walking, balance issues

  • Slowed or abnormal eye movements

  • Difficulty speaking and swallowing

Cognitive (Thinking) Symptoms

  • Difficulty organizing or focusing

  • Slower thinking or decision-making

  • Trouble learning new information

  • Memory loss

  • Poor impulse control or judgment

Psychiatric Symptoms

  • Depression or anxiety

  • Irritability or aggression

  • Obsessive-compulsive behaviors

  • Personality changes

  • In later stages: hallucinations or delusions

🧠 Progression

  • Over time, patients lose voluntary control of movement, cognitive abilities, and speech.

  • The disease progresses over 10–25 years after onset.

  • Death is usually caused by complications such as pneumonia, heart failure, or choking.

🩺 Diagnosis

  • Genetic testing: Confirms CAG repeat expansion in HTT gene.

  • Family history: Strong indicator.

  • Neurological and psychiatric evaluations for motor and cognitive changes.

  • Brain imaging (MRI or CT): Shows atrophy in basal ganglia and cortex.

💊 Treatment (Symptom Management)

There is no cure, but treatment focuses on controlling symptoms and improving quality of life.

1. Medications

PurposeExamplesEffect
Control movements (chorea)Tetrabenazine (Xenazine), Deutetrabenazine (Austedo)Reduce involuntary movements
Antipsychotic drugsHaloperidol, Risperidone, OlanzapineHelp with agitation, hallucinations, and chorea
AntidepressantsSSRIs (sertraline, fluoxetine)Manage depression and mood swings
Mood stabilizers / anti-seizure medsValproic acid, Carbamazepine, LamotrigineControl irritability and mood swings
Anti-anxiety medicationsClonazepam, DiazepamReduce anxiety and muscle stiffness

2. Therapies & Supportive Care

  • Physical therapy: Maintain movement and balance

  • Occupational therapy: Assist with daily activities and adaptive equipment

  • Speech therapy: Helps with communication and swallowing problems

  • Nutritional support: High-calorie diet to counter weight loss and difficulty eating

  • Psychological counseling: For patients and families to cope emotionally

  • Support groups: Improve social connection and family education

3. Experimental / Research Treatments

  • Gene silencing (antisense oligonucleotides): Trials testing drugs that reduce mutant huntingtin protein production (e.g., tominersen).

  • Stem cell therapy: Research aims to replace damaged brain cells.

  • Neuroprotective drugs: Testing antioxidants and mitochondrial support therapies.

❤️ Prognosis

  • Life expectancy after diagnosis: typically 10–25 years.

  • With multidisciplinary care, patients can maintain independence longer and improve comfort.

  • Family genetic counseling is essential for prevention and emotional support.

Comments

Post a Comment

Thank you.