Abstract
BackgroundPelvic 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.MethodsQuestionnaire 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.Results80% (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.ConclusionsA 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.
Highlights
Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA)
One large study of 258 FRDA patients showed that 82% of patients reported lower urinary tract symptoms (LUTS) and 22% related these symptoms to poorer quality of life [14]
The Inventory of Non-Ataxic Symptoms (INAS) is a checklist of non-ataxic symptoms such as other motor and sensory symptoms, ocular signs and cognitive impairment [17]. This includes a point for urinary dysfunction which was excluded from the questionnaire for our study
Summary
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. Friedreich’s Ataxia (FRDA) is the most common hereditary ataxia with an estimated prevalence in Western European populations varying from 1:125,000 to 1:20,000 [1, 2]. It is an autosomal recessive neurodegenerative disorder involving defects of the frataxin (FXN) gene on chromosome 9, which encodes the mitochondrial protein, frataxin [3]. The aim of this study was to describe LUTS, bowel and sexual symptoms in FRDA patients and to describe this in relation to other established clinical and genetic features. The co-existence of urinary, bowel and sexual symptoms and associations with clinical characteristics was studied
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