Presentation and management patterns of lower urinary tract symptoms in adults due to rare inherited neuromuscular diseases

Objectives To describe the urologic sequalae of several rare congenital neuromuscular diseases. Methods We retrospectively reviewed medical records at Gillette Specialty Healthcare (2014-18) of patients presenting to urology clinic with lower urinary tract symptoms and select rare congenital diseases: muscular dystrophy, spinal muscular atrophy, and Rett syndrome. Results Muscular Dystrophies (n=19) are X-linked myogenic disorders characterized by progressive muscle wasting and weakness. Men present to the urologist at variable ages, typically with complaints of functional incontinence and normal cystometrograms (CMG); we manage them with oral anticholinergic medications, condom catheter or suprapubic catheter. Spinal Muscular Atrophy (n=6) is a rare autosomal recessive disease characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem leading to progressive muscle weakness and atrophy. Patients typically present with nephrolithiasis and urinary retention in late adolescence/early adulthood, but timing varies. Filling CMGs have been normal. We allow passive retention with intermittent catheterization and creation of catheterizable channels, when indicated. Rett Syndrome (n=5) is a rare, non-inheritable genetic condition affecting females characterized by a brief period of normal development followed by loss of speech and purposeful hand use; there are characteristic behaviors. Patients present in early adulthood with complaints of urinary retention. We manage retention with permissive retention or sphincter chemodenervation. Conclusions Several congenital neuromuscular conditions can cause lower urinary tract symptoms when these individuals become adults. We have discussed the clinical characteristics and management of select neurogenic and myogenic bladder conditions seen in adults with congenital conditions.