Anatom3D
ENCZDE
Download

Huntington's disease

Chorea Huntingtoni · Huntingtonova nemoc

What it is

A single dominant CAG repeat expansion; the striatum degenerates in midlife.

Symptoms & signs

  • Chorea (dance-like movements)
  • personality change
  • depression
  • cognitive decline
  • swallowing trouble

🚩 Get help if…

  • call 112 / 911 now Thoughts of suicide
  • call 112 / 911 now Choking on food or drink
  • see a doctor soon Falls or weight loss
  • see a doctor soon Aggression or confusion getting worse

Where it strikes

Medical treatment

  • Tetrabenazine, deutetrabenazine
  • antidepressants
  • antipsychotics
  • speech and swallow therapy
  • genetic counselling

Natural & lifestyle

  • High-calorie diet
  • exercise for function
  • falls prevention
  • family support

Emerging & experimental

  • Huntingtin-lowering ASOs (tominersen)
  • AMT-130 gene therapy
  • zinc-finger repressors

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Creatine — a large trial stopped early for futility not confirmed in trials
  • Coenzyme Q10 — a large trial (2CARE) found no benefit not confirmed in trials
  • Cannabis for chorea — small studies early / small studies

ICD codes