ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.

Journal: The Application Of Clinical Genetics

Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and symptoms of adrenal insufficiency and/or cerebral demyelination. Heterozygous females may be asymptomatic, but may develop a later-onset and more slowly progressive spastic paraparesis. In this review, we describe the clinical presentation of AMN, as well as its diagnosis and management. The role of rehabilitative therapies and options for management of spasticity are highlighted.

Alyssa Volmrich, Lauren Cuénant, Irman Forghani, Sharon Hsieh, Lauren Shapiro

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