Overview of Huntington's Disease and Its Symptoms

Huntington's Disease

Hereditary, progressive neurological disorder that involves the gradual degeneration and eventual death of neurons in the basal ganglia (particularly in caudate nucleus and putamen)

Dopamine Pathways

Neurotransmitter pathways disrupted in Huntington's Disease.

Monoamine-Depleting Agents

Effective for managing chorea symptoms in HD.

Medications effective for mental health sides of HD

• antidepressants

• antipsychotics

• mood-stabling drugs

Therapy options for managing HD symptoms

• Cognitive Behavioural Therapy (CBT)

• Physical Therapy (PT)

• Occupational Therapy (OT)

• Speech and Language Therapy (SLT)

C-A-G Repeats

Genetic marker indicating Huntington's Disease risk.

Adult-Onset HD

C-A-G repeats of 40-50 indicate adult onset.

Juvenile-Onset HD

C-A-G repeats of 60 or more indicate early onset.

Vonsattel Grading Scale

Classifies severity of caudate atrophy in HD.

Grade 0-1

No evident atrophy of caudate nucleus or putamen, may be evidence of microscopic abnormalities

Grade 2

Begins to show atrophy of caudate nucleus and putamen, however profile of caudate remains convex

Grade 3

Atrophy continues to become more severe, caudate appears flat

Grade 4

95% of caudate neurons are lost and atrophy is severe, profile of caudate becomes concave

Speech and swallowing symptoms of HD

• Hyperkinetic dysarthria - slowed, slurred, hard to understand, lack of rhythm, reduced ability to coordinate breathing

• Dysphagia - difficulty swallowing, risk of aspiration

Motor symptoms of HD

• abnormal posture

• choreatic (involuntary) movements

• deterioration of voluntary movements

• dystonia

Dystonia

Abnormal muscle contractions leading to postural issues.

HD impact on motor function

Affects the control and execution of voluntary movements

• chorea

• akinesia

• dystonia

Chorea

abnormal posture, involuntary, irregular and jerky movements of all parts of the body

Akinesia

decline of voluntary movement identified by slow stiff movement that’s hard to initiate

Cognitive Impact of HD

Affects organising, impulse control, motivation, self-awareness, creative thinking and problem-solving

Early Symptoms

Personality changes like mood swings, irritability, apathy, depression and aggression

Later Symptoms

Difficulty concentrating and focusing on intellectual tasks