High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington's Disease: A Self-Reported Questionnaire Study.

Brenda G Vicars,Alice B Liu,Sarah Holt,Suman Jayadev,Claire C Yang,Thomas Bird

doi:10.3390/jpm11080714

Abstract

Huntington’s disease (HD) can be associated with pathologic involvement beyond the striatum including the autonomic nervous system. Bladder, bowel, and sexual dysfunction have been reported independently in HD, but little is known about their concomitant occurrence. To document this concomitant phenomena, forty-eight subjects (54% male, ages 28–74 years, CAG repeat 38–61) with manifest/symptomatic HD completed detailed questionnaires regarding bladder, bowel, and sexual function. In total, 45 subjects (93.8%) reported symptoms in at least one organ system (bladder, bowel, or sexual), 13 (27.1%) reported symptoms in two systems, and 19 (39.6%) reported concomitant symptoms in all three systems. Urinary problems were most frequent in 42 subjects (87.5%) followed by lower bowel (60.4%) and sexual dysfunction (56.2%). Participants reporting concomitant symptoms were more likely to have longer duration of disease and lower Total Functional Capacity (TFC) scores. This study documents the high frequency of bladder, bowel, and sexual dysfunction in HD and the common occurrence of concomitance of these pelvic organ problems.

Highlights

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an increased number of trinucleotide repeats in the coding region of the Huntington gene
Forty-eight subjects were able to complete all bladder, bowel, and sexual function study questionnaires (Table 1), and they form the basis of this study
Impairment of bladder, bowel, and sexual function has been under-recognized among individuals with HD despite significantly impacting their quality of life

Summary

Introduction

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an increased number of trinucleotide repeats in the coding region of the Huntington gene. The mean age of disease onset is 40 years with the mean duration of disease of. Sparse attention has been paid to the association of HD with development of pelvic organ dysfunction, encompassing bladder, bowel, and sexual organs or the presence of concomitant symptomatology [2,3,4,5,6,7]. Current texts of HD rarely mention the presence of bladder and bowel dysfunction in HD, and the reporting of sexual function is presented predominantly in the context of disordered psychiatric manifestations [8,9,10,11]. Nerve damage in HD results in autonomic as well as somatic dysfunction, which can impact the coordination of nerves and muscles controlling bladder, bowel, and sexual function [14,15,16]

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