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Amn ebook

AMN/ALD: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)

Publication date: 27 Feb 2017

Associated community Adrenomyeloneuropathy

Author: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng Xing, Mathew Yip and Sharmin Yousef-Led by Henry He and Supervised by Deepa Kushwaha, PhD, Scientific Director


Adrenomyeloneuropathy (AMN) is a rare disorder that affects less than 1 in 40,000 people, and occurs most frequently in males between 20 and 40 years old. The gene responsible for the inherited disease is the ABCD 1 gene on the X chromosome. AMN is characterized by the degeneration of the adrenal gland and loss of fatty covering (myelin) on brain nerves.


Symptoms often involve the nervous system, such as spinal cord dysfunction. However, patients may also experience weight loss, weakness, skin changes, and vomiting, The disease can be diagnosed through blood tests, and MRI scans are also available.


There is currently no cure for AMN, but several drugs, such as Bezafibrate and ampira, are currently being developed. Gene therapy trials will also become an option for patients in the years to follow. It is important that patients clearly describe the specific region, and duration of pain that they experience to their doctor.