Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

JIMD Reports
Johann HofereiterJalesh Panicker

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers. In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS). Forty-eight patients participated, 19 males (mean EDSS score (n = 16) 5.0 (95% CI ± 1.03)) and 29 females (mean EDSS score (n = 25) 3.2 (95% CI ± 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n = 19) and females (86.2%, n = 25). There was no significant gender difference in severity of OAB symptoms (P = 0.35) and impact on quality of life (P = 0.13). Furthermore, there was no significant difference in OAB severity when symptoms ...Continue Reading

Citations

Jun 4, 2018·Brain : a Journal of Neurology·Isabelle WeinhoferJohannes Berger
Aug 11, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Alexander M RossorMary M Reilly
Aug 4, 2020·Journal of General and Family Medicine·Koji ObaraItaru Toyoshima
Dec 19, 2020·Annals of Clinical and Translational Neurology·Joana Afonso RibeiroJalesh N Panicker
Jan 8, 2021·Orphanet Journal of Rare Diseases·Camille S CorreFlorian S Eichler

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

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