What is Adrenomyeloneuropathy?
Adrenomyeloneuropathy (AMN) is an inherited metabolic disorder characterized by the degeneration of the adrenal gland and the loss of fatty covering on brain nerves. It is a form of X-linked adrenoleukodystrophy. AMN patients typically experience symptoms including spinal cord dysfunction, weakness, weight loss, skin changes, vomiting, and coma. Brain function may also be affected, depending on the type of AMN.
What is the prevalence of Adrenomyeloneuropathy?
Adrenomyeloneuropathy is a rare disorder, affecting less than 1 in 40,000 people. It is a X-linked condition, and occurs more frequently in males. The average age range for disease and symptom onset is between 20 and 40 years. There is no known racial predilection for Adrenomyeloneuropathy.
How is Adrenomyeloneuropathy diagnosed?
Adrenomyeloneuropathy can be diagnosed through a blood test to analyze the amount of very long chain fatty acids. In patients with the condition, the levels of the fatty acid molecules are elevated. DNA-based blood tests and MRI scans to access cerebral involvement are also available.
Is there any specific gene/pathway in Adrenomyeloneuropathy that has been identified?
Adrenomyeloneuropathy is caused by a mutation in the ABCD1 gene. This gene is responsible for the production of the adrenoleukodystrophy protein (ALDP) which transports long- chain fatty acid (VLCFAs). In a mutated ABCD1 gene, the insufficient amount of ALDP slows the transportation and breakdown of VLCFAs, and instead they accumulate within the body.
How is Adrenomyeloneuropathy treated?
There are various treatments available for Adrenomyeloneuropathy patients that help combat symptoms. Replacement therapy and adrenal steroids control adrenal insufficiency and balance hormone levels, which ultimately improves the patient’s quality of life. Additionally, patients have the option of dietary manipulation with Lorenzo Oil to reduce VLCFA levels. Patients with early cerebral involvement may undergo a bone marrow (hematopoietic stem cell) transplantation.
Are there any clinical trials underway for Adrenomyeloneuropathy?
There are currently no clinical trials underway for Adrenomyeloneuropathy.
How can RareShare be helpful to Adrenomyeloneuropathy patients and families?
The Adrenomyeloneuropathy RareShare Community has 103 members. There are currently 268 discussions underway, helping to connect patients, health workers, caregivers and families interested in AMN and providing them continual access to community resources.
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