Bowel and bladder dysfunction in adults with spinal muscular atrophy: audit of practice

<h3>Objectives</h3> This study aimed to explore the impact of bladder and bowel dysfunction on quality of life (QoL) in adults with spinal muscular atrophy (SMA) by identifying contributing factors and lived experiences. <h3>Background</h3> SMA is a genetic disorder that causes progressive muscle weakness and atrophy due to degeneration of motor neurons caused by mutations in the SMN1 gene. Bladder symptoms are common in SMA for uncertain multifactorial reasons, inclusive of neural degeneration, behavioural factors, and disability, which are risk factors leading to symptomatic presentation. <h3>Methods</h3> A multi-disciplinary team conducted a retrospective notes audit of urinary symptoms, medication, and management in 28 patients with SMA Type 2 and 3, a mean age of 38, attending the annual review clinic at St Georges Hospital. QoL and urinary symptoms profile questionnaires have also been distributed to participants. <h3>Results</h3> The audit identified various bladder symptoms, including bladder augmentations, urinary retentions, urology referrals, and hospitalisations for constipation, renal stones, and urinary obstruction. These symptoms significantly impacted the QoL and well-being of affected adults. <h3>Conclusion</h3> Bladder symptoms are an under-recognised comorbidity in adults with SMA. Due to their considerable impact on QoL and well-being, future research and care standards are required to address this unmet need.