More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Adrenoleukodystrophy is a rare genetic disorder caused by mutations in the ABCD1 gene, resulting in the build-up of very long chain fatty acids (VLCFA). It can cause a range of problems affecting the nerve cells of the brain, spinal cord and body, and may also affect the normal function of the adrenal glands (Addison’s Disease). The name “adrenoleukodystrophy” refers to this combination of adrenal gland “Adreno-“ and brain white matter (“leukodystrophy”) problems. Females are sometimes called ‘carriers’, because they can pass the gene to their children but were thought to be unaffected themselves. However, we now know that the ALD gene does cause effects in many women, therefore, we refer to females as ‘females with the ALD gene’. Treatment options vary based on the form and stage of the disease, and management focuses on addressing symptoms and supporting the patient’s well-being.
We have produced separate booklets for more practical information relevant to your condition.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
ALD is caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs). It is thought that these VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body and brain. The myelin (white matter) acts like the coating around an electric cable, and allows messages to be transmitted along nerve cells.
X-linked recessive: The mutant gene is located on the X chromosome. Men have one X and one Y chromosome while women have two X chromosomes. This means that a female with a mutated gene on one X chromosome, will have the effects somewhat balanced by their second X chromosome without the mutation. However, a male with a mutated gene on their X chromosome will be affected as they only have one. In rare cases, instead of being inherited, the gene mutation happens while the embryo is developing. This is called a ‘de novo’ mutation.
Often females find out that they have this gene due to a male member of the family being diagnosed. This can lead to feelings of guilt, especially if they have passed the gene on to their son. It is very common to have these feelings but it is important to remember that it is not your fault. Our counsellor and support services team can help you to work through these feelings.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Symptoms can vary in severity. In women, the development of either cerebral leukodystrophy or adrenal insufficiency is extremely rare –and has only been described in a very few isolated cases.
Some common symptoms which can be vague in the beginning and easily attributed to common diseases are:
Women with the ALD gene: trips, falls, mobility, bladder, fatigue, numbness in feet and legs, restless legs
AMN: adrenal insufficiency, bladder, mobility, trips and falls, numbness in feet and legs, restless legs
Refer to the practical information pages at the top of the page for more detailed information on your specific condition.
Learn more about specific symptoms of this leukodystrophy in these pages.
Currently there is no treatment for ALD but there are promising clinical studies researching options. Treatment is unique to each person but generally focuses on alleviating symptoms of the disease such as muscle spasms, stiffness, and bowel and bladder problems.
If you have symptoms these should be discussed with your doctor.
Though adrenal insufficiency is extremely rare for women, steroid replacement therapy is available for treating adrenal insufficiency and generally improves the patient’s quality of life.
There is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
Dr. Stephan Kemp is a Professor at the Amsterdam University Medical Centers (AMC), University of Amsterdam, the Netherlands. With over 20 years of experience in adrenoleukodystrophy (ALD) research and more than 80 scientific publications, Dr. Kemp is a leading expert in the field. In 1999, together with Dr. Hugo Moser, he helped create the ALD database now known as the ABCD1 Variant Registry.
The ABCD1 Variant Registry collects and records changes (variants or mutations) in the ABCD1 gene which is the gene responsible for adrenoleukodystrophy and adrenomyeloneuropathy (AMN). A genetic variant simply means a change in the DNA. Some variants are harmless (benign), while others known as pathogenic variants can cause disease. In ALD, a pathogenic variant in the ABCD1 gene alters how the body processes very long-chain fatty acids, leading to ALD and AMN. For more information, visit The ABCD1 Variant Registry.
Each variant added to the ABCD1 registry helps researchers and clinicians better understand:
The strength of this registry lies in collaboration. Diagnostic laboratories, researchers, physicians, and families all contribute information to improve understanding of how different ABCD1 variants affect people.
By sharing your or your family’s ABCD1 variant, you help strengthen this global resource by:
If you would like to add your ABCD1 variant to the registry, please contact: Professor Stephan Kemp at s.kemp@amsterdamumc.nl
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member are diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.