- Huntington’s disease is a fully penetrant autosomal dominant neurodegenerative disorder with a prevalence of approximately 10 per 100,000.
- Characterized by neuronal loss accompanied by intraneuronal inclusions and gliosis predominantley in the caudate nucleus, the putamen, and the cerebral cortex.
PERTINENT HISTORICAL FINDINGS/ CLINICAL SYMPTOMS
- Symptoms begin between the ages of 30-55 years however 5-10% of the population has an onset before age 20.
- Symptoms include: combination of movement disorder, psychiatric disturbances, and cognitive dysfunction.
- The disease progress to institutionalization and death over 15 years.
PERTINENT PHYSICAL EXAM FINDINGS
- Motor changes: early in the disease process the movements are predominantly chorea but later on parkinsonism and dystonia develop. Juvenile patients may have more rapidly progressive akinetic-rigid/dystonic form.
- Psychiatric manifestations: personality changes, impulsiveness, aggressive behavior, depressions, and paronioid psychosis.
- Cognitive changes: progressive dementia with disturbed attention, concentration, judgment, and problem solving.
- Oculomotor dysfunction manifesting by difficulty in refixating gaze leading to a tendency to use head thrusts.
- Parkinson’s Disease
- Alzheimers Disease
- Diagnosis is confirmed by genetic testing.
- Normal alleles of the IT15 gene have fewer than 30 CAG repeats whereas 40 or more repeats result in clinical manifestation of the disease.
- A multidisciplinary team approach to the care of Huntington’s patients is recommended.
- Psychiatric symptoms can be managed the same as in other psychiatric diseases.
- Chorea maybe responsive to drugs which reduce central dopamine activity. Dopamine receptor blocking neuroleptics: haloperidol, pimiozide, fluphenazine. Dopamine depleting agents: tetrabenasine, reserpine
SURGICAL MANAGEMENT (when applicable)
- Not applicable
EMERGENCY MANAGEMENT (when applicable)
- Not applicable
PATIENT EDUCATION/ MAINTENANCE – PREVENTION
Genetic counseling for patients and family members is critical.https://www.youtube.com/watch?v=TkfVnzavREw
Dr. Zachary Lahlou