Spinal muscular atrophy (SMA) from the urological point of view: Assessment of the urinary function in 38 patients

Abstract Abstract  Spinal muscular atrophy (SMA) includes genetic heterogeneous diseases characterized by muscle weakness and atrophy. There are at least two risk factors for SMA patients to develop urinary dysfunctions: 1) the neural degeneration, that influences the pelvic floor and sphincters; 2) the disabilities that predispose to constipation and urinary incontinence and symptoms. Nevertheless, the true incidence of urological disorders remains unknown. The evaluation of urinary symptoms in SMA patients remains scarcely investigated. The aim of our paper is to assess the association between urological disorders and SMA. We worked out a questionnaire to assess the voiding habits of patients with SMA followed at a single Italian Centre. We collected demographic data and information regarding respiratory, orthopedic and gastrointestinal involvement. We excluded patients <5 years of age. 38 patients were evaluated at a mean age of 12 years. Twenty-five patients had Type 2SMA, 13 Type 1 SMA. The respiratory system was involved in 35 patients, PEG was performed in 7 for failure to thrive and 26 suffered from constipation. Fifteen out of 38 (39%) patients wear diapers for urinary incontinence or for convenience. Two patients presented recurrent urinary retention requiring catheterization. No episodes of urinary infections nor urolithiasis were observed. Urinary function parameters were within the normal range. Our results suggest that the urinary function of SMA patients seems good. Nevertheless, a thorough urinary assessment in early childhood is important to identify bad habits in order to reduce the daily discomfort improving the quality of life.