Huntington’s disease (HD)
Why in news?
Recent advancements in Huntington's disease research highlight promising gene therapies and clinical trials, with breakthroughs reported in late 2025 showing slowed disease progression. Key developments include uniQure's AMT-130 gene therapy, which demonstrated approximately 75% slowing of progression in trials.​
About Huntington’s Disease
Huntington’s disease (HD) is a rare, inherited brain disorder that progressively damages nerve cells, leading to problems with movement, thinking, and behavior. It is caused by a mutation in the huntingtin gene and typically appears between ages 30–50.
- Genetic origin: HD is caused by a DNA error in the huntingtin gene. This mutation leads to abnormal protein buildup that damages brain cells, especially in the striatum, which controls movement, mood, and behavior.
- Inheritance: It is an autosomal dominant disorder—if one parent carries the defective gene, each child has a 50% chance of inheriting it.
- Progression: Symptoms worsen over time, with gradual loss of independence.
Symptoms
- Motor symptoms: Involuntary, dance-like movements (chorea), abnormal postures, difficulty with voluntary movement, impaired coordination.
- Cognitive symptoms: Decline in memory, concentration, decision-making, and problem-solving.
- Psychiatric symptoms: Depression, irritability, personality changes, and sometimes psychosis.
- Onset: Usually between ages 30–50, but juvenile HD can appear before age 20.
Diagnosis
- Genetic testing: Confirms the presence of the huntingtin mutation.
- Neurological exams: Assess motor control, reflexes, and mental status.
- Brain imaging (MRI/CT): Shows shrinkage in affected brain regions.
Treatment & Management
There is no cure yet, but treatments help manage symptoms:
- Medications:
- Antipsychotics (for mood/behavioral issues).
- Tetrabenazine or deutetrabenazine (reduce chorea).
- Therapies: Physical, occupational, and speech therapy to maintain function.
- Supportive care: Counseling, nutrition management, and social support.
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