Anorectal Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntingtons Disease.


eMediNexus    10 July 2018

The goal of a new study published in the Journal of Huntington’s Disease was to report anorectal dysfunction in a systematically studied cohort of Huntingtons disease (HD) patients. The study enrolled 54 HD patients – 24 males and 10 presymptomatic HD mutation carriers, and 99 controls – 44 males wherein history of anal incontinence and constipation were obtained and data compared. In HD mutation carriers, a clinical neurologic assessment and in some cases anorectal manometry were performed. The results revealed that defecation urgency was reported by 28% of HD mutation carriers, soiling by 18%, and fecal incontinence by 28%. Meanwhile, severe anal incontinence (solid stools) was found in 0% men and 10% women; moderate (liquid stools) in 21% and 13%; and mild (flatus only) in 67% and 47% of the HD patients, respectively. When compared to the controls, anal incontinence was significantly more common in HD patients. Severe chronic constipation was found in 4.2% men and 0.0% women; moderate in 8.3% and 0.0%; and mild in 21% and 27% of HD patients, respectively. Moreover, constipation was more common in HD men than HD women. While anorectal dysfunction was not reported by 54% of the HD patients. Furthermore, patients reporting incontinence or constipation were significantly more depressed. Upon anorectal manometry, reduced resting anal pressure was found in 4 of 6 HD women. Hence, the findings indicated significant bowel dysfunction in HD patients. It was speculated that these symptoms could be of central autonomic origin.

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