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ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
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 sympt...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381027/ https://www.ncbi.nlm.nih.gov/pubmed/35983253 http://dx.doi.org/10.2147/TACG.S359479 |
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author | Volmrich, Alyssa M Cuénant, Lauren M Forghani, Irman Hsieh, Sharon L Shapiro, Lauren T |
author_facet | Volmrich, Alyssa M Cuénant, Lauren M Forghani, Irman Hsieh, Sharon L Shapiro, Lauren T |
author_sort | Volmrich, Alyssa M |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9381027 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-93810272022-08-17 ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy Volmrich, Alyssa M Cuénant, Lauren M Forghani, Irman Hsieh, Sharon L Shapiro, Lauren T Appl Clin Genet Review 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. Dove 2022-08-12 /pmc/articles/PMC9381027/ /pubmed/35983253 http://dx.doi.org/10.2147/TACG.S359479 Text en © 2022 Volmrich et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Review Volmrich, Alyssa M Cuénant, Lauren M Forghani, Irman Hsieh, Sharon L Shapiro, Lauren T ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title | ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title_full | ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title_fullStr | ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title_full_unstemmed | ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title_short | ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy |
title_sort | abcd1 gene mutations: mechanisms and management of adrenomyeloneuropathy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381027/ https://www.ncbi.nlm.nih.gov/pubmed/35983253 http://dx.doi.org/10.2147/TACG.S359479 |
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