Urinary symptoms and urodynamic findings in patients with Machado–Joseph disease

The study evaluated the prevalence of clinical and urodynamic findings in the lower urinary tract of patients with Machado–Joseph (MJ) disease. One hundred twenty-two patients were retrospectively evaluated; 17 (13.9%) presented lower urinary tract dysfunction, 10 of them were women. The average age was 41.6 years. Urgency was found in 15 patients and incontinence in nine. The urodynamic study showed detrusor overactivity in eight patients, areflexia in one, and four with normal detrusor contractility. Bladder sensitivity was abnormal in six, bladder capacity was decreased in one, urine flow decreased in 13, post-voiding residue was greater than 100 ml in nine. We could not find sphincter dyssynergia. The average cytosine–adenine–guanine (CAG) repetition was higher in patients with abnormal detrusor contraction (89.9) than in patients with normal urodynamics (68.2) (p = 0.03). There was no statistical significance when comparing the averages of replicates for people with and without urgency urinary incontinence (p = 0.27 and p = 0.5, respectively). The rate of lower urinary tract dysfunction in patients with MJ disease was around 14%. The urodynamic study showed predominance of detrusor overactivity and urgency as the most common symptom. We found an association between the total number of CAG repetitions and changes in detrusor contractility.