Adrenomyeloneuropathy (AMN) is a rare hereditary neurodegenerative disorder that primarily affects the spinal cord and peripheral nerves, occurring in less than 1 in 40,000 people. It is characterised by progressive motor dysfunction and adrenal insufficiency. AMN is a form of X-linked adrenoleukodystrophy, a peroxisomal disorder caused by mutations in the ABCD1 gene. Symptoms most commonly begin in a person's late twenties. AMN predominantly affects adult males but heterozygous females may develop symptoms later in life. Treatments mainly center around symptom-management.
Adrenomyeloneuropathy (AMN) is a rare hereditary neurodegenerative disorder that primarily affects the spinal cord and peripheral nerves, occurring in less than 1 in 40,000 people. It is characterised by progressive motor dysfunction and adrenal insufficiency. AMN is a form of X-linked adrenoleukodystrophy, a peroxisomal disorder caused by mutations in the ABCD1 gene. Symptoms most commonly begin in a person's late twenties. AMN predominantly affects adult males but heterozygous females may develop symptoms later in life. Treatments mainly center around symptom-management.
== Symptoms == Symptoms of AMN typically begin in adulthood, with the mean onset of symptoms for affected males occurring at 27.6 years of age. Common symptoms include: Spastic paraparesis (progressive stiffness and weakness of the legs) Ataxia (loss of coordination) Neurogenic bladder and bowel dysfunction Sexual dysfunction Adrenocortical insufficiency, leading to fatigue, weight loss, and low blood pressure Peripheral neuropathy, causing numbness or pain in the limbs
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).