Huntigtons

Question 1

Huntington disease overview

Answer 1

Inherited autosomal dominant .
Onset generally after the age of , however juvenile presentation can occur
Degenerative disease of the basal ganglia, however neurons in the frontal cortex are also affected
Death occurs 15-25 years after onset of symptoms

Question 2

Symptoms-Motor

Answer 2

Abnormal postural reactions

Abnormal trunk rotation

Unpredictable distribution of tone

Extraneous movements
Chorea-
Athetosis-
Specifically choreoathetoid type-alternating between the two
Ataxic gait
Decrease in associated movements
Disease progression leads to akinesia and rigidity

Question 3

Symptoms-Facial

Answer 3

-Speech
Lacks rhythm
Soft voice

-Swallowing
Lacks coordination
Often leads to weightless

-Voluntary eye movement
Possibly the 1st sign of disease
Saccadic movements are difficult to control

Question 4

Symptoms-Mental

Answer 4

–Emotional
Depression
Hostility
Feelings of incompetence

--Cognitive
IQ decreases
Lack of judgment
Lack of memory
Deterioration of speech
eventually no communication is possible
Ideomotor apraxia

Question 5

Diagnosing Huntingtons

Answer 5

Early signs

Limited eye control

Incoordination, clumsiness, jerkiness

Milkmaid’s Sign

Inability to make complex facial expressions

Question 6

Medical Management

Answer 6

No fully effective medication is available for the disease

GABA and Ach transmitting neurons are decreased with HD

Meds then need to be cholinergic or GABA containing agonists
Perphenazine-ch
Haloperidol-ch
Reserpine-ch
Riluzole-GABA

Medications are not started until chorea form movements interfere with daily life

Question 7

UHDRS-United Huntington’s Disease Rating Scale

Answer 7

This is a rating system to quantify the severity of Huntington’s Disease. It is divided into multiple subsections:motor, cognitive, behavioral, functional

the higher the score the worst the outcome