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  • Huntington’s chorea

  • G10 Huntington’s disease

Description

  • Degeneration of nerve cells in the brain
  • Hereditary disorder
  • Children of people with Huntington’s have 50% of inheriting the gene

Essentials of Diagnosis

  • Genetic dysfunction on 4th chromosome
  • Autosomal dominant inheritance
  • Characterized by choreoathetosis and dementia

General Considerations

  • Family history and genetic testing to confirm diagnosis

Demographics

  • Adult onset generally in 4th or 5th decade of life
  • Early onset, not common but may occur in adolescence
  • Most common in Caucasians of European ancestry

Signs and Symptoms

  • Slight but evident alteration in character initially, followed by issues of self-control, eventually leading to failure of all cognitive function
  • Difficulty with attention and concentration, poor mental flexibility
  • Movement abnormalities begin in hands and face, initial slowing of movement and loss of coordination, progressing to chorea, then athetosis
  • Degree and continuous nature of movement causes most patients to experience extreme weight loss and malnutrition
  • Behavioral changes
  • Irritability
  • Rigidity
  • Tremors
  • Paranoia
  • Dementia
  • Unsteady gait
  • Abnormal reflexes
  • Memory loss

Functional Implications

  • Loss of ability to interact in society and eventually with family members
  • Loss of ability to care for self mentally, emotionally, physically
  • Loss of functional mobility and associated cognitive processes
  • Difficulty swallowing
  • Limited ambulation
  • Poor communication, speech impairments

Possible Contributing Causes

  • Genetic disorder; no other known contributing causes

Differential Diagnosis

  • Parkinson’s disease
  • Alzheimer’s disease
  • Cerebral infection
  • Hyperglycemia
  • Stroke
  • Thyrotoxicosis
  • Tardive dyskinesia
  • Lupus
  • Sydenham chorea

Laboratory Tests

  • DNA/genetic testing

Imaging

  • Head CT may show loss of brain tissue

  • To neurologist for imaging, disease management
    • Medicine: fluoxetine, carbamazepine, anti-psychotic agents
  • To support groups for psychological support
    • Huntington’s Disease Society of America
  • To hospice for end-of-life care
  • To geneticist for genetic counseling

  • Arousal
  • Attention
  • Behavior
  • Cognition
  • Gait
  • Wheelchair mobility
  • Balance
    • Static sit
    • Dynamic sit
    • Static stand
    • Dynamic stand
    • Moving base of support (BOS)
  • Muscle strength
  • Muscle recruitment
  • Coordination
  • Postural control (due to choreoathetosis)
  • Posture (later stages)
  • Range of motion (ROM)
  • Reflexes
    • Deep tendon reflexes (DTR)
    • Babinski
    • Clonus
  • Muscle tone
  • Motor planning
  • Bed mobility
  • Transfers
  • Endurance
  • Aerobic capacity
  • Self-care
  • Home management
  • Fine motor
  • Respiratory compromise

  • Cognition: Mini-mental State Examination (MMSE), executive function tests, memory, comprehension, speed of processing, attention and concentration
  • Strength and muscle endurance
  • Coordination: gross and fine motor
  • Muscle tone: look for fluctuations between normal and high tone; tone changes with patient’s level of anxiety, ...

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