Summary of Recommendations

Figures

Diagnosis Presenting Symptoms

Treatment and Management - Multidisciplinary Team of Health Care Professionals

Cerebral ALD

Myeloneuropathy

Adrenal Insufficiency

Gonadal Insufficiency

Additional Management Recommendations

Document Overview

Design and created by Guideline Central in participation with the Consensus and Physician Experts.

Diagnosis and Management of Patients With Adrenoleukodystrophy

Consensus and Physician Experts

Publication Date: Nov 22, 2022

Page Last Updated: May 5, 2026

Document Overview

Document Title: Diagnosis and Management of Patients With Adrenoleukodystrophy

Authoring Society: Consensus and Physician Experts

Document Publication Date: Nov 22, 2022

Page Last Reviewed/Updated: May 5, 2026

Document Type: Consensus Statement

Country of Publication: United States

Full Text Freely Available: Yes

Full Text Guideline: n.neurology.org/content/99/21/940

Source Citation: Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O. Regelmann, Nicholas A. Tritos, Alyssa Halper, Robin H. Lachmann, James Davison, Gerald V. Raymond, Troy C. Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frédéric M. Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel
Neurology Nov 2022, 99 (21) 940-951; DOI: 10.1212/WNL.0000000000201374

Supplemental Implementation Resources

Document Scope, Criteria, and Use Cases

Scope: Assessment and Screening, Counseling, Diagnosis, Management

Diseases/Conditions (MeSH)

D000326 - Adrenoleukodystrophy

Keywords: Addison's, Addison's disease, Adrenoleukodystrophy, X-ALD, X-Linked Adrenoleukodystrophy, acth, adrenal insufficiency, adrenocorticotropin hormone, adrenomyeloneuropathy, ald

Inclusion Criteria: Male, Female, Adolescent, Adult, Child, Infant

Health Care Settings: Ambulatory, Outpatient

Intended Users: Nurse, Nurse Practitioner, Physician, Physician Assistant

Recommendation Development Processes & Methodology

Number of Source Documents: 41

Includes peer/external review process?: Yes

Includes public comment process?: No

Methodologist involvement?: Yes

Patient involvement?: No

Includes multi-disciplinary group?: Yes

Includes systematic review?: Yes

Grades quality of strength of evidence?: No

Grades quality of strength of recommendation?: No

Discloses funding source?: Yes

Discloses conflicts of interest?: Yes

Includes benefits/harms analysis with recommendations?: No

Diagnosis and Management of Patients With Adrenoleukodystrophy

Summary of Recommendations

Figures

Diagnostic Algorithm

Overview of the Management of Patients With ALD

Diagnosis Presenting Symptoms

Treatment and Management - Multidisciplinary Team of Health Care Professionals

Cerebral ALD

Diagnosis With MRI and the Use of Gadolinium and Sedation

Screening for Cerebral ALD

Alternative Methods for Screening and Diagnosis of Cerebral Disease

Cerebral ALD Treatment

Lifestyle Management

Myeloneuropathy

Screening of Myeloneuropathy

Treatment of Myeloneuropathy

Adrenal Insufficiency

Screening for Adrenal Insufficiency

Treatment of Adrenal Insufficiency

Gonadal Insufficiency

Screening for Gonadal Insufficiency

Treatment of Gonadal Insufficiency

Additional Management Recommendations

Document Overview

Supplemental Implementation Resources

Document Scope, Criteria, and Use Cases

Recommendation Development Processes & Methodology