X-linked Adrenoleukodystrophy

(ALD; Sudanophilic Leukodystrophy; Schilder Disease)

Definition

X-linked adrenoleukodystrophy (ALD) is a rare disorder that makes it hard for the body to break down fatty acids. This results in a build up in the brain and the adrenal cortex. This causes damage to the myelin sheath in the brain and adrenal gland.

ALD often causes death 10 years after symptoms start.

Myelin Sheath Around Nerve Fiber
AX00010_97870_1_myelin_sheath

Copyright © Nucleus Medical Media, Inc.

There are six subtypes:

  • Childhood cerebral ALD
  • Adolescent ALD
  • Adrenomyeloneuropathy
  • Adult cerebral ALD
  • Adrenal insufficiency-only
  • Symptomatic heterozygotes

Causes

ALD is caused by a faulty gene.

Risk Factors

The risk of this problem is higher in people who have other family members with ALD.

Symptoms

Symptoms differ within the types of ALD.

X-linked ALD (Childhood Cerebral ALD)

This form is the most severe. It is only in boys. Symptoms start between 2 to 10 years of age and get worse over time. Boys may have:

  • Behavioral changes
  • Memory problems
  • Slowed thinking
  • Loss of skills
  • Problems seeing
  • Hearing loss
  • Problems swallowing and speaking
  • Problems with walking and coordination
  • Vomiting
  • Lack of energy
  • Skin changes
  • Confusion

X-linked ALD (Adolescent Cerebral ALD)

This type is the childhood type. It starts at 11 to 21 years of age. It happens more slowly.

Adrenomyeloneuropathy (AMN)

This is the most common type. Symptoms can start in when a person is in their 20s. It slowly gets worse. Problems may be:

  • Lack of strength
  • Weight loss
  • Nausea
  • Emotional problems
  • Problems walking and moving
  • Urinary problems
  • Problems maintaining and erection

X-linked ALD (Adult Cerebral ALD)

With this type, symptoms usually do not start until 20 or 50 years of age. It causes symptoms that are like schizophrenia and dementia. It gets worse quickly.

Symptomatic Heterozygotes

This form is only seen in women. Symptoms may be mild or severe. It usually does not affect adrenal gland function.

Diagnosis

You will be asked about your symptoms and health history. A physical exam will be done.

Blood tests and genetic tests may be done.

Treatment

There is no cure for brain damage from ALD. The goal of treatment is to manage symptoms. Choices are:

  • Replacing missing adrenal hormones
  • Physical therapy to help with strength and range of motion
  • Mental health therapy for help coping with ALD
  • Special education to help with learning problems

Boys with cerebral ALD may be given a stem cell transplant. This provides healthy stem cells that make the protein that their stem cells are lacking.

Prevention

There are no known ways to prevent this health problem.

RESOURCES:

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

United Leukodystrophy Foundation
http://www.ulf.org

CANADIAN RESOURCES:

Health Canada
http://www.canada.ca

The Myelin Project of Canada
http://www.myelin.org

REFERENCES:

Adrenoleukodystrophy in children. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/adrenoleukodystrophy-in-children. Accessed November 2, 2020.

Adrenoleukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Adrenoleukodystrophy-Information-Page. Accessed November 2, 2020.

Steinberg SJ, Moser AB, et al. X-Linked Adrenoleukodystrophy. GeneReviews 2015 Apr 9.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 11/2/2020