Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy

Area of Science:

• Neurology
• Urology

Background:

• Adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the nervous system.
• Adults with ALD often experience neurological symptoms impacting daily life.

Purpose of the Study:

• To investigate the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with ALD.
• To identify potential sex differences in the presentation of these symptoms.

Main Methods:

• Retrospective and prospective study involving medical record review (n=103).
• Analysis of urodynamic testing results (n=11).
• Distribution of a symptom and quality of life (QOL) survey (n=59).

Main Results:

• High prevalence of urinary and bowel symptoms in both males (75.0%) and females (78.8%) with ALD.
• Urinary urgency leading to incontinence is common.
• Symptom onset occurs approximately a decade earlier in males.
• 72% of symptomatic patients report a reduced QOL.
• Urodynamic findings reveal detrusor overactivity, bladder underactivity, and detrusor-sphincter dyssynergia.

Conclusions:

• Urinary and bowel dysfunction are significant comorbidities in adult ALD patients, impacting QOL.
• Males experience earlier symptom onset, but symptom burden increases with age in both sexes.
• Understanding these dysfunctions is crucial for targeted treatment and improved patient management, especially considering co-existing gait and balance issues.