Snapshot
![image 178](https://usmlestrike.b-cdn.net/wp-content/uploads/2022/09/image-178.png)
- A 20-year-old man presents with a two-year history of motor restlessness that has progressed to uncontrollable choreiform movements. He has moderate dementia with a severe gait disturbance as well as agitation and problems with his mood. CT scan of the brain shows atrophy of the cerebral cortex and caudate nucleus.
Introduction
- An autosomal dominant disorder characterized by
- choreiform movements
- progressive intellectual deterioration
- Epidemiology
- demographics
- symptoms usually begin to appear in the 3rd-5th decade of life
- both sexes are affected equally
- incidence
- 0.38 cases per 100,000 per year
- demographics
- Genetic
- inheritance
- autosomal dominant
- inheritance
- Pathophysiology
- changes in neurotransmitters with Huntington’s disease
- ↑ dopamine (in ventral tegmentum and substantia nigra) and ↓ GABA (in nucleus accumbens) and ACh (in basal nucleus of Meynert)
- high dopamine can act on the nigro-striatal pathway to result in hyperkinesis
- ↑ dopamine (in ventral tegmentum and substantia nigra) and ↓ GABA (in nucleus accumbens) and ACh (in basal nucleus of Meynert)
- changes in neurotransmitters with Huntington’s disease
- high dopamine can act on the meso-limbic pathway to result in psychotic symptoms
Presentation
- Symptoms
- progressive choreiform movements of all limbs
- ataxic gait
- dementia
- depression
- grimacing
Evaluation
- MRI
- shows atrophy of caudate
Treatment
- Pharmacologic
- no known cure
- medications used to treat Huntington’s disease include
- amine-depleting agents (inhibit VMAT, involved in monoamine transport)
- reserpine
- ↓ release of amines (dopamine)
- reserpine
- antipsychotics
- muscle relaxants
- amine-depleting agents (inhibit VMAT, involved in monoamine transport)
- benzodiazepines
Prognosis, Prevention, and Complications
- Death inevitable
- Suicide common cause of death