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CONDITION/DISORDER SYNONYMS

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  • Huntington chorea

  • Huntington’s disease (HD)

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ICD-9-CM CODE

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  • 333.4 Huntington chorea

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ICD-10-CM CODE

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  • G10 Huntington disease (HD)

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PREFERRED PRACTICE PATTERN

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  • 5E: Impaired Motor Function and Sensory Integrity Associated with Progressive Disorders of the Central Nervous System1

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PATIENT PRESENTATION

A 40-year-old man presents to the psychiatry emergency room for inappropriate behavior and confusion. He works as a janitor and has had reasonably good work attendance. His coworkers say that he has appeared “fidgety” for several years. They specifically mention jerky movements that seem to affect his entire body more recently. His mother is alive and well, although his father died at age 28 in an auto accident. On examination, he is alert but easily distracted. His speech is fluent but is noted to be tangential. He has trouble with spelling the word “world” backwards and counting in serial sevens, but recalls three objects at 3 minutes. When he walks, there is a lot of distal hand movement, and his balance is precarious, although he can stand with both feet together for several seconds. His deep tendon reflexes are increased bilaterally, and there is bilateral ankle clonus. A urine drug screen is negative.2

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KEY FEATURES

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Description
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  • Degeneration of nerve cells in the brain

  • Hereditary disorder

  • Children of people with Huntington disease have 50% chance of inheriting the gene

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Essentials of Diagnosis
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  • Genetic dysfunction on fourth chromosome

  • Autosomal dominant inheritance

  • Characterized by choreoathetosis and dementia

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General Considerations
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  • Family history and genetic testing to confirm diagnosis

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FIGURE 89-1

Schematic representation of the sequence of neurons involved in Huntington disease. A. Dopaminergic neurons (red) originating in the substantia nigra normally inhibit the GABAergic output from the striatum (caudate and putamen), whereas cholinergic neurons (green) exert an excitatory effect. B. In Huntington disease, GABAergic neurons (black) are preferentially lost, resulting in reduced inhibitory output from the striatum. (From Aminoff MJ. Pharmacologic management of parkinsonism and other movement disorders. In: Katzung BG, Masters SB, Trevor AJ, eds. Basic and Clinical Pharmacology. 12th ed. New York, NY: McGraw-Hill; 2012.)

Graphic Jump Location
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Demographics
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  • Adult onset generally in fourth or fifth decade of life

  • Early onset, not common but may occur in adolescence

  • Most common in people who are Caucasian of European ancestry

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CLINICAL FINDINGS

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SIGNS AND SYMPTOMS

  • Slight but evident alteration in character initially, followed by issues of self-control, eventually leading to failure of all cognitive functions

  • Difficulty with attention and concentration, poor mental flexibility

  • Movement abnormalities begin in the hands and face, initial slowing of movement and loss of coordination, progressing ...

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