Objective: Characterization of urinary dysfunctions in SCAs is needed not only for the understanding of SCAs but also for the correct diagnosis in patients with ataxia.

Background: Autonomic dysfunctions including orthostatic hypotension or urinary dysfunctions are not thought to be symptoms of SCAs. Therefore, without genetic testing, sporadic SCAs patients with urinary dysfunctions might be confused as having cerebellar type multiple system atrophy (MSA-C). However, there are only a few studies on lower urinary tract symptoms (LUTS) in patients with SCAs and most studies have focused on a single or a small number of specific subtypes.

Method: We retrospectively reviewed the medical records of 143 patients with genetically confirmed SCA including SCA 1, 2, 3, 6, 7, 17 and DRPLA, who were diagnosed and followed up at Movement Disorder Clinic at Seoul National University Hospital (SNUH). The trinucleotide repeats considered abnormal when exceeding 44, 31, 44, 18, 19, 40, and 35 for SCA1, 2, 3, 6, 7, 17, and DRPLA, respectively. Among the 143 patients, the number of patients with SCA 1, 2, 3, 6, 7, 17 and DRPLA were 11, 51, 26, 20, 4, 26 and 5, respectively. Among these, 22 (15.1%) (9 men and 13 women) who had LUTS were included in this study. A definition of the symptoms, signs, urodynamic conditions associated with LUTS, and methods of urodynamic study (UDS) followed the International Continence Society guidelines. Results are presented in a descriptive manner. Data were expressed as the mean ± standard deviation (SD).

Results: The mean age of the 22 patients was 62.1±10.9 years. The mean disease duration of SCA was 8.2±2.9 years LUTS was present in 1 (9.0%) of 11 patients with SCA 1, 4 (7.8%) of 51 with SCA2, 2 (7.7%) of 26 with SCA3, 3 (15.0%) of 20 with SCA6, 2 (50.0%) of 4 with SCA7, 8 (30.7%) of 26 with SCA17 and 2 (40.0%) of 5 with DRPLA. Overall, urinary frequency was the most common symptom (16 patients, 72.7%) followed by voiding difficulty (13 patients, 59.0%). Six of 10 patients who visited urology or gynecology clinic underwent the UDS: 2 with SCA2, 2 with SCA6, and 2 with SCA17. Post-void residuals (PVR) was >100 ml in 3 (50%) patients. Flow rate was intermittently decreased in 3 (50.0%) and 1 (16.7%) patient had anuria. Detrusor activity, bladder compliance, and detrusor-sphincter dyssynergia (DSD) and neurogenic motor unit potential (MUP) in the sphincter electromyography (EMG) were further evaluated in 4 out of 6 patients. Detrusor overactivity was noted in 3 (75.0%). Detrusor areflexia was observed in 1 (25.0%). DSD and neurogenic MUP in the sphincter EMG were not seen in any patients. Four of these 6 patients were diagnosed with a neurogenic bladder: 3 with storage problem, and 1 with both storage and voiding problem in UDS.

Conclusion: In this study, 22 (15.1%) of 143 patients with SCA had the urinary symptoms. Compared with previous studies describing LUTS in a single type of SCAs, our data shows that LUTS occur in various types of SCAs. Making a diagnosis of MSA-C based on the combination of cerebellar symptoms and urinary dysfunctions, one should consider the possibility of SCA even when there is no family history.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/lower-urinary-tract-symptoms-and-urodynamic-findings-in-scas/