Huntington's disease - Chronic
Rahul Soman, M. Pharm
Definition
A progressive, autosomal dominant neurodegenerative disorder characterized by movement abnormalities, psychiatric manifestations, and cognitive impairment
Presymptomatic genetic testing for individuals at risk for Huntington disease
* Huntington disease gene mutation carrier detection test
Medical History
* Family history of Huntington's disease
Findings
* Chorea
* Dystonia
* Abnormal saccadic eye movement
* Poor muscle tone
* Hyperreflexia
* Bradykinesia
* Muscle rigidity
* Impaired cognition
* Depression - Chronic
* Irritability
* Personality change
* Dementia
* Weight loss
* Cachexia
* Dysphagia - Chronic
* Abnormal gait
* Indifference
* Psychotic disorder
* Dysarthria
* Agitation
* Dysphoric mood
* Anxiety
* Urinary incontinence - Chronic
* Obsessive-compulsive disorder - Chronic
Tests
Suspected Huntington disease
* Huntington disease gene mutation carrier detection test: In DNA testing for Huntington disease (HD), a cytosine-adenine-guanine (CAG) repeat length of equal to or less than 26 excludes the diagnosis of HD .
Suspected and known Huntington disease
* Magnetic resonance imaging of brain and brain stem: Striatal volume loss may be a useful marker for progression of Huntington disease and may provide an outcome measure for therapeutic trials .
Suspected and known Huntington disease
* Computerized axial tomography of brain
Differential Diagnosis
* Tardive dyskinesia
* Rheumatic chorea
* Choreoacanthocytosis
* Wilson's disease - Chronic
* Systemic lupus erythematosus - Chronic
* Neurosyphilis
* Hyperthyroidism - Chronic
* Drug-induced chorea
* Polycythemia vera
* Progressive non-hereditary chorea, chronic
* Infarction of basal ganglia
* Malignant neoplasm of basal ganglia
* Benign hereditary chorea
* Fahr's syndrome
* Jakob-Creutzfeldt disease - Chronic
* Spinocerebellar ataxia
* Neuronal ceroid lipofuscinosis
* Dentatorubropallidoluysian degeneration
* Late onset Huntington's disease
* Juvenile onset Huntington's disease
* Somatization disorder
Treatment
Drug Therapy
Chorea
TETRABENAZINE
Adults: initial, 12.5 mg orally once daily in the morning; after 1 week, increase to 12.5 mg orally twice daily, if necessary; titrate by 12.5 mg at weekly intervals to a dose of 37.5 to 50 mg/day orally in divided doses 3 times a day (maximum single dose, 25 mg; maximum daily dose, 100 mg); genotype patients for CYP2D6 if a dose greater than 50 mg/day is required
HALOPERIDOL
Adults: 0.5 to 30 mg orally daily in divided doses
RESERPINE
Adults: 0.1 to 0.3 mg orally daily in divided doses
CLONAZEPAM
Adults: 0.5 to 4 mg orally daily
DIAZEPAM
Adults: 1.25 to 20 mg orally daily
Depression
SERTRALINE HYDROCHLORIDE
Adults: 25 to 200 mg orally daily
FLUOXETINE HYDROCHLORIDE
Adults: 10 to 80 mg orally daily
PAROXETINE HYDROCHLORIDE
Adults: 10 to 60 mg orally daily
Bradykinesia and rigidity
CARBIDOPA/LEVODOPA
Adults: (25/100 tablet) 1 tablet orally once to three times daily
BROMOCRIPTINE MESYLATE
Adults: 1.25 mg orally twice daily; increase as tolerated
Psychosis
RISPERIDONE
Adults: 0.5 to 6 mg orally daily
OLANZAPINE
Adults: 2.5 to 20 mg orally daily
QUETIAPINE FUMARATE
Adults: 25 to 750 mg orally daily in divided doses
Procedural Therapy
Inadequate nutritional intake in patients with Huntington disease
* Enteral feeding
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