Huntington's Disease Flashcards

1
Q

What is HD aka Huntington’s Chorea

A

Neurological Disorder of the CNS:

Characterized by degeneration/atrophy of the basal ganglia (striatum) and cerebral cortex.

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2
Q

Etiology

A

Genetically transmitted as an autosomal dominant trait

(Chromosome 4)

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3
Q

What will patients initially present with?

A
  • involuntary choreic movements (Huntington’s Chorea); grimacing, protrusion of the tongue, raising of the eyebrows (Tardive Dyskinesia)
  • personality changes
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4
Q

Treatments

A

Genetic and psychological counseling to the patient and family

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5
Q

What is the typical age of onset?

A

35-55 y/o

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6
Q

What chromosome is associated with having a defect in HD?

A
  • Defect linked to chromosome 4
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7
Q

What neurons see a decrease in overall quantity and activity?

A

GABA (Gamma-Aminobutyric Acid) Neurons

and

Acetylcholine Neurons

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8
Q

With progression of the disease what will patient present with? (mid-stage)

A
  • Gait ataxia
  • LE and truncal choreoathetoid movements
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9
Q

Late stage signs/symptoms?

A
  • Decrease in IQ; cognitive decline
  • Incontinence
  • Dysphagia
  • Inability to ambulate or transfer
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10
Q

In the late stage Choreiform movements can progress to?

A

Choreiform movements progressing to Rigidity

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11
Q

What laboratory or imaging studies may be used to confirm diagnosis?

A

MRI or CT: may be used to identify _atrophy or abnormalities of the cerebral cortex or basal ganglia

PET scan: May be used to obtain information regarding: Blood flow, oxygen uptake, metabolism

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12
Q

What patient education may be given for those with HD?

A
  • Lying in prone
  • Contracture prevention
  • safety with mobility
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13
Q

What is the average life expectancy after clinical manifestation?

A

15 - 20 years

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14
Q

What should PT focus on?

A

Maximizing:
- Endurance
- Strength
- Balance
- Postural control
- Functional Mobility

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15
Q

When should pharmacological management be initiated?

A

pharmacological management once choreiform movements impairs patients functional capacity

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16
Q

HD is characterized as a?

A

Movement disorder with affective dysfunction and cognitive impairments