Adrenomyeloneuropathy

Common Name(s)

Adrenomyeloneuropathy

Adrenomyeloneuropathy (AMN)is a rare X-linked genetic disorder and a form of adrenoleukodystrophy (ALD). Though it affects men more severely, AMN also affects women. Symptoms begin between ages 20-40. AMN is caused by a buildup of very long chain fatty acids (VLCFAs). This buildup damages myelin, the fatty covering of the nerve and brain cells. When myelin breaks down, the nervous system has a hard time sending messages. Symptoms of AMN include urinary and genital tract infections and progressive stiffness and weakness in the legs. The VLCFAs will severely damage the brain and nervous system of 10-20% of men with AMN, leading to early death. Most people with AMN also have adrenocortical insufficiency or Addison’s disease, because the extra VLCFAs can damage the adrenal glands. These glands make hormones which help balance sugar and salt levels, and our response to infection, surgery and injury. The damaged adrenal glands don’t make enough of the hormones causing weakness, weight loss, skin changes and vomiting.

All forms of ALD are caused by a mutation (change) in the ABCD1 gene. This gene makes the ALD protein (ALDP). ALDP helps the peroxisome (small sacs in each of our cells) break down VLCFAs. If there is not enough ALDP, the VCFA’s are not broken down and instead build up. ALDs are the most common type of peroxisomal disorder.

Blood tests detect the buildup of VLCFAs. A brain scan (MRI) can show if myelin is breaking down. If the brain is involved, the disorder may be more progressive and require extensive therapy. Medication and steroids effectively treat Addison’s disease. Many babies are screened for ALD at birth. For more information, visit Baby’s First Test. Research is ongoing, so talk with your doctor about current treatment options. Genetic counselors and support groups are also good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenomyeloneuropathy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

Last Updated: 16 Apr 2015

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Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy). Our current goal is to get ALD newborn screening added to the Recommended Uniform Screening Panel (RUSP) to allow for early diagnosis and life saving interventive treatment for all at risk babies in the US.

Last Updated: 20 May 2015

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

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The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

Last Updated: 13 Nov 2012

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenomyeloneuropathy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 16 Apr 2015

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Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy). Our current goal is to get ALD newborn screening added to the Recommended Uniform Screening Panel (RUSP) to allow for early diagnosis and life saving interventive treatment for all at risk babies in the US.

http://www.fightald.org

Last Updated: 20 May 2015

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

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The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

http://www.myelin.org

Last Updated: 13 Nov 2012

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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General Resources

ALD-AMN Route Map

A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.

Uploaded By: ALD Life

Updated 4 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adrenomyeloneuropathy" returned 25 free, full-text research articles on human participants. First 3 results:

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
 

Author(s): Hyung Jun Park, Ha Young Shin, Hoon-Chul Kang, Byung-Ok Choi, Bum Chun Suh, Ho Jin Kim, Young-Chul Choi, Phil Hyu Lee, Seung Min Kim

Journal: Yonsei Med. J.. 2014 May;55(3):676-82.

 

This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.

Last Updated: 10 Apr 2014

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Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
 

Author(s): Aia Elise Jønch, Else Rubæk Danielsen, Carsten Thomsen, Per Meden, Kirsten Svenstrup, Jørgen Erik Nielsen

Journal:

 

Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS demyelination to spinal cord and peripheral ...

Last Updated: 10 Dec 2012

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Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy.
 

Author(s): T J Stradomska, J Kubalska, R Janas, A Tylki-Szymanska

Journal: Eur. J. Endocrinol.. 2012 Feb;166(2):291-4.

 

X-linked adrenoleukodystrophy (X-ALD) is the most frequent, severely neurodegenerative, clinically heterogeneous peroxisomal disorder, the signs of which are a consequence of myelin, adrenal cortex, and testes impairment.

Last Updated: 20 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adrenomyeloneuropathy" returned 1 free, full-text review articles on human participants. First 3 results:

Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.
 

Author(s): Monika Spurek, Regina Taylor-Gjevre, Stan Van Uum, Hasnain M Khandwala

Journal: CMAJ. 2004 Oct;171(9):1073-7.

 

Adrenomyeloneuropathy is a varient of adrenoleukodystrophy, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction ...

Last Updated: 26 Oct 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Newborn Screening for Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy

 

Last Updated: 5 Jan 2017

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Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
 

Status: Not yet recruiting

Condition Summary: X-Linked Adrenoleukodystrophy

 

Last Updated: 16 Oct 2017

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Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
 

Status: Available

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 8 Dec 2016

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