title: 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.
authors.affiliation: Department of Neurology, General Hospital Novo Mesto, 1525, Ljubljana, Slovenia, kolencm@gmail.com.
authors.forename: Matej
authors.initials: M
authors.lastname: Kolenc
authors.forename: Metka
authors.initials: M
authors.lastname: Moharić
authors.forename: Jan
authors.initials: J
authors.lastname: Kobal
authors.forename: Simon
authors.initials: S
authors.lastname: Podnar
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006579:Heterozygote; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009460:Neurologic Examination; D011788:Quality of Life / Q000523:psychology*; D011795:Surveys and Questionnaires; D001743:Urinary Bladder / Q000503:physiopathology*; D014549:Urinary Incontinence / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins