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

OBJECTIVE: To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation. METHODS: In this retrospective and prospective study, we performed medical record review (n = 103), analyzed the results of clinically indicated urodynamic testing (n = 11), and developed and distributed a symptom and quality of life (QOL) survey (n = 59). RESULTS: Urinary and bowel symptoms are highly prevalent in both males (75.0%) and females (78.8%) in this population, most commonly urinary urgency, often leading to incontinence. Time to onset of first urinary or bowel symptom occurs approximately a decade earlier in males. Seventy-two percent of symptomatic patients report a limitation to QOL. Urodynamic evaluation provides evidence of three distinct mechanisms underlying lower urinary tract dysfunction: involuntary detrusor contractions (indicating uncontrolled neuronal stimulation with or without leakage), motor underactivity of the bladder, and asynergy between detrusor contraction and sphincter relaxation. CONCLUSIONS: Beyond gait and balance difficulties, urinary and bowel symptoms are common in adults with ALD and impair QOL. Males are affected at a younger age but both sexes experience a higher symptom burden with age. As this population also experiences gait and balance impairment, patients with ALD are more vulnerable to urinary urgency leading to incontinence. Urodynamic evaluation may help better elucidate the pathophysiologic mechanisms underlying neurogenic lower urinary tract dysfunction, which can allow more targeted treatment.

The Comprehensive Management of Cerebellar Ataxia in Adults.

PURPOSE OF REVIEW: In this review, we present the multidisciplinary approach to the management of the many neurological, medical, social, and emotional issues facing patients with cerebellar ataxia. RECENT FINDINGS: Our holistic approach to treatment, developed over the past 25 years in the Massachusetts General Hospital Ataxia Unit, is centered on the compassionate care of the patient and their family, empowering them through engagement, and including the families as partners in the healing process. We present the management of ataxia in adults, beginning with establishing an accurate diagnosis, followed by treatment of the multiple symptoms seen in cerebellar disorders, with a view to maximizing quality of life and effectively living with the consequences of ataxia. We discuss the importance of a multidisciplinary approach to the management of ataxia, including medical and non-medical management and the evidence base that supports these interventions. We address the pharmacological treatment of ataxia, tremor, and other associated movement disorders; ophthalmological symptoms; bowel, bladder, and sexual symptoms; orthostatic hypotension; psychiatric and cognitive symptoms; neuromodulation, including deep brain stimulation; rehabilitation including physical therapy, occupational therapy and speech and language pathology and, as necessary, involving urology, psychiatry, and pain medicine. We discuss the role of palliative care in late-stage disease. The management of adults with ataxia is complex and a team-based approach is essential.

Organ conservation in invasive bladder cancer by transurethral resection, chemotherapy and radiation: results of a urodynamic and quality of life study on long-term survivors.

PURPOSE: Transurethral resection, chemotherapy and radiation with salvage cystectomy may be used as alternatives to immediate radical cystectomy in the management of invasive bladder cancer. Concern exists about the function of the retained bladder after such therapy. MATERIALS AND METHODS: Of 221 patients with clinical T2-4a bladder cancer treated at Massachusetts General Hospital from 1986 to 2000 with trimodality therapy, 71 were alive with native bladders and disease-free in 2001. These patients were asked to undergo a urodynamic study and to complete a quality of life questionnaire. A total of 69% participated in some component of this study with a median time from trimodality therapy of 6.3 years (range 1.6 to 14.9). RESULTS: Of 32 patients 24 had normally functioning bladders by urodynamic study. Decreased bladder compliance was seen in 7. Bladder hypersensitivity, involuntary detrusor contractions and incontinence were present in 2 women. The questionnaire showed that flow symptoms occurred in 6%, urgency in 15% and control problems in 19%. Of all women 11% wore pads. Distress from urinary symptoms was half as common as prevalence. Bowel symptoms occurred in 22% with 14% recording any level of distress. The majority of men retained sexual function. Global health related quality of life was high. CONCLUSIONS: The majority of patients treated with trimodality therapy retain good bladder function. A fifth have evidence of bowel dysfunction.