Adrenomyeloneuropathy

Adrenomyeloneuropathy, often shortened to AMN, is a rare inherited neurodegenerative disorder that mainly damages the spinal cord and the peripheral nerves. It is a form of X-linked adrenoleukodystrophy, a peroxisomal disorder caused by mutations in the ABCD1 gene, and it is reported in fewer than 1 in 40,000 people. Symptoms usually begin in a person's late twenties, with a mean onset in affected men of about 27.6 years. They include progressive stiffness and weakness of the legs, loss of coordination, bladder and bowel dysfunction, sexual dysfunction and numbness or pain in the limbs. Adrenal insufficiency, which brings fatigue, weight loss and low blood pressure, affects most men with the condition, and about 46 percent of men also have involvement of the brain. Women who carry one altered copy of the gene may develop spinal cord or nerve symptoms later in life. The faulty gene reduces a protein that helps the body break down very long-chain fatty acids, which build up in the spinal cord, brain, adrenal glands and testes. Blood tests for these fatty acids and genetic testing support diagnosis. There is no cure, and care centres on managing symptoms, replacing adrenal hormones and, for cerebral disease, stem cell transplantation. This entry records what is known and is not medical advice.