Female Sexual Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington's Disease.

BACKGROUND: Although in Huntington's disease (HD) movement, cognition, and personality are most significantly affected, autonomic dysfunction should not be neglected. In women with HD sexual dysfunction has not been adequately studied yet. OBJECTIVE: To report sexual dysfunction in a systematically studied cohort of female HD patients and compare it with controls of a similar age. METHODS: In female HD patients and presymptomatic HD mutation carriers, we compared the Female Sexual Function Index (FSFI) questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale (UHDRS) and the Total Functional Capacity (TFC). RESULTS: Of 44 female HD patients and 9 presymptomatic HD mutation carriers, 30 HD patients and 8 HD mutation carriers responded our invitation to complete FFSI questionnaire. Finally, 23 HD women with a partner were compared to 47 controls with a partner. HD patients had more problems with sexual arousal, lubrication, orgasm and sexual satisfaction. By contrast, we found no difference in sexual desire and pain. Sexual dysfunction progressed in parallel with the decline in the TFC; severe sexual dysfunction occurred with TFC <7/13. CONCLUSIONS: Our study demonstrated a significant impact of HD on female sexual function that progressed with patients' functional decline and impaired patients' quality of life. Sexual dysfunction may be caused by progression of the disease itself, side effects of medication, and comorbidities like depression or dementia.

Male sexual function in presymptomatic gene carriers and patients with Huntington's disease.

AIMS: To report sexual dysfunction in a systematically studied cohort of men with Huntington's disease (HD), and compare them with control men of a similar age. METHODS: In men with HD and asymptomatic HD gene carriers, the male sexual dysfunction questionnaire (International Index of Erectile Function--IIEF, covering erectile and orgasmic function, sexual desire, intercourse satisfaction and overall satisfaction), neurologic assessment using the Unified Huntington's Disease Rating Scale (UHDRS) and the Total Functional Capacity (TFC) Score were utilized. RESULTS: Responses were obtained from 23 HD patients and 2 HD gene carriers. HD patients reported more problems with erection, intercourse satisfaction and overall satisfaction (p<0.05) compared to 41 controls. HD patients generally reported reduced sexual desire and performance. Sexual dysfunction progressed in parallel with patients' decline in motor (UHDRS) and TFC, but was not related to patients' age and duration of disease. CONCLUSIONS: Our study demonstrated a significant impact of HD on male sexual function that progressed in parallel with motor and total patient (TFC) dysfunction. Physicians helping HD patients should also consider this largely neglected aspect of the disease.

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

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.

No electrophysiological evidence for Onuf's nucleus degeneration causing bladder and bowel symptoms in Huntington's disease patients.

AIMS: In several degenerative neurologic diseases degeneration of Onuf's nucleus has been demonstrated using histologic and electromyographic (EMG) methods. Although Huntington's disease (HD) patients also frequently complain of bladder and bowel symptoms, degeneration of Onuf's nucleus has not been systematically studied in this group. METHODS: From our inventory of patients with genetically confirmed HD, all patients willing and capable of participating in the study, which utilized several standard questionnaires, were included. The patients reporting bladder/bowel symptoms were also asked to participate in anal sphincter EMG and sacral reflex studies. RESULTS: Of 52 patients (23 men) with genetically confirmed HD, 34 reported bladder/bowel symptoms, and 16 (8 men) of them consented to anal sphincter EMG and sacral reflex studies. Complete pattern of urinary and fecal urgency with incontinence reported 6 (38%), and incomplete 3 (19%) patients, accompanied with episodic diarrhea in another 3 (19%) patients. No patient exhibited quantitative anal sphincter EMG or sacral reflex abnormalities. However, in 81% of patients, decreased tonic anal sphincter activity and/or decreased voluntary activation were found on qualitative EMG. Lower sacral sensory thresholds and shorter reflex latencies were also found in HD patients compared to controls. CONCLUSIONS: We found no EMG signs of Onuf's nucleus degeneration in HD patients. The observed decreased anal sphincter tonic activity and voluntary activation, lower sacral sensory thresholds and shorter reflex latencies as well as the reported bladder/bowel symptoms, are probably caused by degeneration of other central nervous system structures. Neurourol. Urodynam. 33:524-530, 2014. © 2013 Wiley Periodicals, Inc.