Bladder dysfunction in presymptomatic gene carriers and patients with Huntington’s disease

Abstract

The objective of this study was to report bladder dysfunction and cystometric findings in a systematically studied cohort of Huntington's disease (HD) patients. In HD patients and asymptomatic HD gene carriers a urinary function questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale, and postvoid residual volume measurement were applied. All patients were also invited to cystometric studies. Urinary function data were compared to control men and women. The most common symptoms in 54 HD patients (24 men) were those of bladder overactivity (men/women 54%/40%), followed by urinary incontinence (29%/43%) and symptoms of disturbed bladder emptying (25%/40%). Using urinary function questionnaires severe bladder dysfunction was found in 4%/0%, moderate in 21%/23%, and mild in 25%/30% of HD men/women. Urinary symptoms interfered with daily life in 21%/37% and sexual life in 21%/33% of sexually active HD men/women. In 5 HD men and 1 woman, increased postvoid residual volume (>100 ml) was found. Compared to 49/55 control men/women urinary incontinence, and urgency were more common in HD men, but not in HD women (urinary incontinence reported 10%/38% of control men/women). Cystometry, performed in 12 HD patients and 1 of 10 asymptomatic HD gene carriers, demonstrated detrusor-sphincter dyssynergia in 5 (42%), detrusor overactivity in 2 (17%), and reduced detrusor capacity in 2 (17%) HD patients. Our study demonstrated significant urinary symptoms in HD patients, which reduced their quality of life. Physicians helping HD patients should also consider this largely neglected aspect of the disease.

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

“…As in other degenerative CNS diseases, loss of supraspinal neurons results in a loss of inhibition of the micturition reflex, resulting in bladder overactivity with urinary urgency, frequency, nocturia, and urgency incontinence [ 32 ]. Limited studies have reported urinary symptoms in HD [ 2 , 5 , 6 , 7 ], and our findings corroborate them, with a high frequency of bladder dysfunction in our clinic population. In their cohort of 54 HD patients, Kolenc et al reported a significant level of urinary symptomology in both men and women, with the most common symptoms being bladder overactivity (frequency, urgency), urinary incontinence, and symptoms of disturbed emptying [ 2 ].…”

“…The clinical features of HD are commonly described as a triad of motor, cognitive, and psychological symptoms, which are attributed to neuronal loss in the striatum and other areas of the brain. However, 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 ].…”

Increased intestinal permeability and gut dysbiosis in the R6/2 mouse model of Huntington’s disease

“…Alongside progressive central pathology resulting in neurodegeneration and cognitive decline 3 , 4 , HD pathology is defined by weight loss 27 – 29 . It has been pointed out that presymptomatic mutation carriers and patients with Huntington's disease show upper GI tract problems 30 , bladder 31 and bowel dysfunction 32 and that the severity of dysfunction correlates with poor quality of life and depression. Similarly, van der Burg and colleagues found impaired gut motility, diarrhea, and malabsorption of food in R6/2 mice 9 .…”

A Review of Scales to Evaluate Sleep Disturbances in Movement Disorders

“…The Danish Prostate Symptom Score ( 41 ) and the International Continence Society (ICS) ICSmale questionnaire ( 42 ) are very complete but requires more time and harder to score. The shortened version of the latter, the ICSmale Short Form ( 43 ), provides a good alternative and has been used in a Huntington’s disease population ( 44 ).…”