Huntington’s Disease

  • Huntington’s disease is a fully penetrant autosomal dominant neurodegenerative disorder with a prevalence of approximately 10 per 100,000.

 ETIOLOGY/ PATHOGENESIS

  • 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.

 DIFFERENTIAL DIAGNOSIS 

  • Parkinson’s Disease
  • Alzheimers Disease

DIAGNOSTIC EVALUATIONS

  • 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.

 MEDICAL MANAGEMENT

  • 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

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Dr. Zachary Lahlou

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