Askeland EJ, Arlen AM, Erickson BA, et.al.;
Journal of Urology, 2013 Oct;190(4 Suppl):1523-8 Submitted by Carlos A. Luciano, MD
Duchenne and Duchenne/Becker muscular dystrophy constitute a spectrum of X-linked inherited diseases caused by mutations in the dystrophin gene and termed dystrophinopathies. In the more severe presentation, Duchenne muscular dystrophy, the disease is characterized by progressive weakness and multiple complications such as cardiomyopathy, scoliosis, and respiratory failure. Urologic complaints have not been reviewed or studied systematically in this condition.
In a study published in the Journal of Urology,
Askeland and colleagues conducted a retrospective review of urological complaints in 135 patients with a diagnosis of Duchenne and Duchenne/Becker muscular dystrophy. They found that up to 50% of all the patients studied had at least one urologic diagnosis of which lower urinary tract symptoms (e.g. dysuria, frequency, hesitancy, and incontinence) was the most common. They also found an association with the stage of severity of the dystrophy since lower urinary tract symptoms and nephrolithiasis were more common in non-ambulatory patients and those on invasive respiratory support.
This study raises awareness about various urological conditions that patients with more severe dystrophinopathies (Duchenne and Duchenne/Becker muscular dystrophy) may have, something that is not commonly mentioned in the literature pertaining to disease management. The study shows that urologic dysfunction increases in more advanced stages of the disease and proposes possible associations between the frequency of the urologic diagnoses and the degree of inactivity, such as urine stasis, and with the chronic exposure to medications such as corticosteroids. Awareness of the existence of these problems can lead to early interventions and preventive strategies and can help deliver more efficient care to Duchenne muscular dystrophy patients.