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  1. Meher Lad1,
  2. Michael Parkinson2,
  3. Myriam Rai3,
  4. Massimo Pandolfo3,
  5. Sinead Murphy3,
  6. Anton Emmanuel5,
  7. Jalesh Panicker6,
  8. Paola Giunti2
  1. 1Royal Victoria Infirmary, Newcastle
  2. 2UCL Institute of Neurology and National Hospital for Neurology
  3. 3Université Libre de Bruxelles, Department of Neurology, Hôpital Erasme, 1070 Brussels, Belgium
  4. 5Department of Neurology, Adelaide & Meath Hospitals, Tallagt, Dublin 24, Ireland
  5. 6University College London Hospitals
  6. 7National Hospital for Neurology & Neurosurgery, London


Background Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder leading to ataxia, weakness, peripheral neuropathy, diabetes and cardiomyopathy. Although patients also report urinary, bowel and sexual symptoms these have barely been described in the literature.

Methods 59 Patients seen in a research clinic in a year were included. Questionnaire scores measuring urinary, bowel and sexual symptoms were compared with validated measures of disease severity.

Results Urinary symptom scores correlated significantly (p=0.021) with duration of disease symptoms and spasticity scores (p=0.045). Quality of life measures of patients with urinary symptoms correlated with ataxia rating scales (SARA) (p=0.036) and non-ataxic symptoms (INAS) (p=0.003). Neurogenic Bowel Disease scores correlated with severity of ataxic symptoms (SARA) (p=0.024) and activities of daily living (ADLs) (p=0.001). Sexual symptom scores did not correlate with any established measures of disease severity and disease duration.

Conclusions Urinary and lower gastro-intestinal symptoms can have a severe impact on patients with FRDA although they are under-recognised. They impact on quality of life and correlate with established measures of disease severity.

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