🧠 Neurological Disorder

Huntington's Disease

Also known as: Huntington's Chorea, HD

Huntington's disease is a progressive neurodegenerative disorder caused by an inherited defect in a single gene. It causes the progressive breakdown of nerve cells in the brain, affecting movement, cognitive abilities, and behavior.

ICD-10: G10 Orphanet: ORPHA399 OMIM: 143100
👥 3 to 7 per 100,000 in Western populations Prevalence
🔬 89 Active Trials

Huntington's disease happens when a part of a gene repeats too many times. This causes brain cells to slowly stop working, which makes it hard for people to control their movements, remember things, and manage their feelings. Scientists are working hard to find ways to stop the disease.

Signs & Symptoms

  • Involuntary jerking movements (chorea)
  • Muscle rigidity
  • Slow or abnormal eye movements
  • Impaired gait and posture
  • Difficulty with speech and swallowing
  • Memory lapses
  • Difficulty concentrating
  • Depression and irritability
  • Obsessive-compulsive behaviors
  • Weight loss

Treatment Options

MEDICATION FDA Approved

Tetrabenazine (Xenazine)

MODERATELY EFFECTIVE Approved 2008
MEDICATION FDA Approved

Deutetrabenazine (Austedo)

MODERATELY EFFECTIVE Approved 2017
MEDICATION FDA Approved

Antipsychotics for chorea

MODERATELY EFFECTIVE
THERAPY FDA Approved

Physical therapy

PALLIATIVE
THERAPY FDA Approved

Speech therapy

PALLIATIVE
GENE THERAPY

Gene silencing therapies

EXPERIMENTAL

Diagnosis

  • Genetic testing for CAG repeat expansion in HTT gene
  • Neurological examination
  • MRI brain imaging (caudate nucleus atrophy)
  • Psychiatric evaluation
  • Family history assessment

History

The disease is named after George Huntington, who described it in 1872 based on observations of affected families on Long Island, NY. The genetic cause (HTT gene) was discovered in 1993 after a decade-long collaborative effort. This was one of the first disease genes mapped using genetic linkage analysis and remains a model for understanding trinucleotide repeat disorders.

Recent Breakthroughs

2024

Next-generation ASO therapies in trials

Following setbacks with tominersen, new antisense oligonucleotide approaches with improved selectivity are showing promise in early trials.

2023

CRISPR gene editing advances

Researchers demonstrated successful reduction of mutant huntingtin protein using CRISPR-Cas9 in primate models.