Objective: To evaluate the urodynamic findings in a cohort of patients with Spinocerebellar Ataxia Type 7 (SCA7) reporting lower urinary tract symptoms.

Background: SCA7 is characterized by progressive cerebellar ataxia and cone-rod and retinal dystrophy with progressive central visual loss resulting in blindness. In our clinical experiences, patients with SCA7 also report lower urinary tract symptoms (LUT symptoms). However there are few reports about LUT symptoms in patients with SCA7, which impair quality of life and increase the risk for falls and fractures, particularly relevant to this cohort because of motor disability and visual disturbance. However, the pathophysiological basis for lower urinary tract dysfunction (LUT dysfunction) is poorly characterized in this group.

Methods: Two SCA 7 patients with LUTS were investigated by urodynamic study (UDS).

Results: Case 1: She is a 61 years old female with 20 years disease duration. She has ataxia and visual loss. Her LUT symptoms are urgency, nocturia, urge and stress incontinence. In UDS, borderline of reduced bladder capacity without abnormal detrusor contraction is shown during storage phase, and low and intermittent urinary flow and low and prolonged detrusor pressure are shown during voiding phase, although residual urine volume is low (20ml). Case 2: He is a 51 years old male with over 17 years disease duration. He has ataxia and visual loss. His LUT symptoms are urgency, frequency and urge incontinence. In UDS, reduced bladder capacity without abnormal detrusor contraction is shown during storage phase, and low and irregular urinary flow and low and prolonged detrusor pressure are also shown during voiding phase, although residual urine volume is low (23ml). These UDS findings in both cases suggest increased bladder sensation as a storage problem and detrusor underactivity with or without bladder outlet obstruction as a voiding problem.

Conclusions: Significant pathophysiological changes in lower urinary tract control are detected in patient with SCA7. This implication may be useful in planning of the management for LUT sympotms in these patietns.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/urodynamic-findings-in-a-cohort-of-patients-with-sca7-reporting-lower-urinary-tract-symptoms/