The n e w e ng l a n d j o u r na l of m e dic i n e

images in clinical medicine

Huntington’s Chorea

Mahdi Malekpour, M.D.

Mohsen Esfandbod, M.D
Tehran University of Medical Sciences
Tehran, Iran

A
33-year-old woman presented with stereotypic choreic movements (see video). These uncon-
trollable movements, which had begun 6 years earlier, initially affected only her limbs but later extended to
include her trunk and neck. The abnormal movement was absent when the patient was asleep and was exac-
erbated with stress. The patient also had hypotonic and dysarthric speech. Examination revealed normal mental status,
normal rectal sphincter tone, and hyperactive tendon reflexes. Her sister, father, and grandmother reportedly had
unspecified abnormal body movements during their fourth decade, followed by dementia and death within 10 years
of the onset of symptoms. Magnetic resonance imaging revealed atrophy of the caudate nucleus (arrowhead) and
putamen (arrow), with enlarged ventricles, findings suggestive of Huntington’s chorea. Huntington’s chorea is distin-
guished by the triad of dominant inheritance, choreoathetosis, and dementia. Once symptoms first appear, the disease
progresses and usually results in death within 10 to 20 years. In fully developed forms of Huntington’s chorea, diagno-
sis is straightforward, but genetic screening helps to confirm diagnosis in atypical cases and in patients with early
presentation of symptoms. If the gene encoding the huntingtin protein has more than 38 repeats of the CAG trinucleo-
tide, the disease is confirmed, as it was in this patient. Haloperidol was prescribed, and there was a slight reduction of
involuntary movement. The patient continues to be seen regularly, and there has been no abatement or progression of
symptoms.
Copyright © 2010 Massachusetts Medical Society.

e24 n engl j med 363;15 nejm.org october 7, 2010

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