ABCD1 Gene Mutations: Mechanisms And Management Of Adrenomyeloneuropathy
August 2022
in “
The Application of Clinical Genetics
”
TLDR ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
Pathogenic variants in the ABCD1 gene on the X chromosome were found to cause adrenomyeloneuropathy (AMN), with affected males typically showing symptoms in their third or fourth decade, including progressive lower limb weakness, spasticity, adrenal insufficiency, and cerebral demyelination. Heterozygous females might be asymptomatic or develop a later-onset, slowly progressive spastic paraparesis. The review discussed the clinical presentation, diagnosis, and management of AMN, emphasizing rehabilitative therapies and management options for spasticity.
