Diagnosis of patients with wellestablished signs and symptoms

After a few years of illness, diagnosis is easier. The signs and symptoms will have worsened, and usually the motor disorder has become obvious. A typical patient who has been ill for about 5 to 7 years is unable to work or manage finances, but lives at home and is able to handle personal needs. Some patients remain active and energetic, continuing to participate as fully in life as their cognitive and motor disabilities allow; others are apathetic most of the time, but irritable when disturbed; still others have severe depression with delusions, obsessions, or compulsions, and most are anxious and easily upset by changes of routine. An uncommon, but very troublesome, feature of Huntington' disease is sexual abnormality. While most patients become impotent or uninterested in sex, a few are hypersexual and may develop paraphilias/!4ยป While these may begin in the early years of illness, they are usually most troublesome in the middle stages.

Cognitively, patients complain of forgetfulness and becoming easily distracted. Thinking is slow; patients have difficulty following a conversation and cannot complete a multistaged task. On cognitive examination, Mini Mental State Examination scores(!5) may still be above the usual 23 cut-off score, but serial sevens will be very poor, and one or two items will be missed on recalling words after a distraction. On neuropsychological testing, IQ will be lower than expected for education, and there will be difficulty learning word lists and on tests that require changing sets.

Most patients will have obvious involuntary choreic movements, as well as difficulty with control of voluntary motor movements, as seen by clumsiness, slowness, dysarthria, and an unsteady gait. The involuntary movements will wax and wane with the level of arousal. Speech will have an irregular staccato, often laboured, quality. Saccadic eye movements will be slow or irregular, and the patient will be obviously clumsy on diadochokinesis and finger-thumb tapping, although finger-to-nose testing is normal. Gait will be wide based and irregular, with difficulty with tandem walking. Reflexes are usually brisk.

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