Orphanet Journal of Rare Diseases

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

Meher Lad,
Michael H. Parkinson,
Myriam Rai,
Massimo Pandolfo,
Petya Bogdanova-Mihaylova,
Richard A. Walsh,
Sinéad Murphy,
Anton Emmanuel,
Jalesh Panicker† and
Paola Giunti†Email author View ORCID ID profile

†Contributed equally

Orphanet Journal of Rare Diseases201712:158

https://doi.org/10.1186/s13023-017-0709-y

Received: 9 May 2017

Accepted: 17 September 2017

Published: 26 September 2017

Abstract

Background

Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.

Methods

Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living.

Results

80% (n = 46/56) of patients reported LUTS, 64% (n = 38/59) reported bowel symptoms and 83% (n = 30/36) reported sexual symptoms. Urinary and bowel or sexual symptoms were significantly likely to co-exist among patients. Late-onset FRDA patients were also more likely to report LUTS than early-onset ones. Patients with a longer disease duration reported higher LUTS scores and poorer quality of life scores related to urinary symptoms.

Conclusions

A high proportion of FRDA have symptoms suggestive of LUTS, bowel and sexual dysfunction. This is more marked with greater disease duration and later disease onset. These symptoms need to be addressed by clinicians as they can have a detrimental effect on patients.