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

نویسندگان

  • Meher Lad
  • Michael H Parkinson
  • Myriam Rai
  • Massimo Pandolfo
  • Petya Bogdanova-Mihaylova
  • Richard A Walsh
  • Sinéad Murphy
  • Anton Emmanuel
  • Jalesh Panicker
  • Paola Giunti
چکیده

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.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families

Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich...

متن کامل

Evaluating the relative frequency of bladder and bowel dysfunction (BBD) and its related factors in children under age 14 with a urinary tract infection (UTI) admitted to Yasuj teaching hospitals in 2019-2020

aims:Bladder and Bowel Dysfunction (BBD) can negatively affect a child's quality of life and self-confidence. Therefore, early diagnosis and treatment of BBD are essential to prevent secondary morbidity, affecting kidney and bladder function and mental health. This study aimed to investigate the prevalence of bladder-intestinal disorders in children with UTIs. Methods:The present study employe...

متن کامل

Which Speech Symptoms Contribute Most to Reduced Intelligibility in Individuals with Ataxic Dysarthria Secondary to Friedreich’s Disease?

This critical review examines the evidence regarding which speech dimensions effect impaired intelligibility in persons with Friedreich’s ataxia (FA). Study designs include single group designs and one study comparing single group data with normal controls’. Overall, there is inconsistent evidence that word final voicing, vocal harshness, inconsistent articulatory breakdown and metered speech c...

متن کامل

Expandable DNA Repeat and Human Hereditary Disorders

Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...

متن کامل

Comparison of Effect of Anterior Colporrhaphy and Transobturator Tape Surgeries on Urinary Incontinence and Sexual Performance in Women

Aims: Pelvic floor disorders such as urinary incontinence and pelvic and genital prolapse affect sexual function and quality of life. The aim of the present study was to compare the effect of anterior colporrhaphy and transobturator tape (TOT) surgeries on urinary incontinence and sexual function in women. Materials&Methods: This retrospective cohort clinical trial study was performed on 136 w...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 12  شماره 

صفحات  -

تاریخ انتشار 2017