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Clinical and Genetic Characterization of Female Dystrophinopathy

BACKGROUND AND PURPOSE: Duchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and are classified as symptomatic carriers. The aim of this study was to clinicall...

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Autores principales: Lee, Seung Ha, Lee, Jung Hwan, Lee, Kyung-A, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507379/
https://www.ncbi.nlm.nih.gov/pubmed/26022459
http://dx.doi.org/10.3988/jcn.2015.11.3.248
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author Lee, Seung Ha
Lee, Jung Hwan
Lee, Kyung-A
Choi, Young-Chul
author_facet Lee, Seung Ha
Lee, Jung Hwan
Lee, Kyung-A
Choi, Young-Chul
author_sort Lee, Seung Ha
collection PubMed
description BACKGROUND AND PURPOSE: Duchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and are classified as symptomatic carriers. The aim of this study was to clinically and genetically characterize symptomatic female dystrophinopathy carriers. METHODS: The clinical and genetic data of 11 female dystrophinopathy carriers among 285 patients who underwent multiplex ligation-dependent probe amplification (MLPA) analysis for the dystrophin gene were reviewed. Women with muscle weakness and/or dilated cardiomyopathy were classified as symptomatic carriers, while subjects with high serum creatine kinase (CK) levels and/or minor myopathic signs such as muscle cramps and myalgia were classified as asymptomatic. RESULTS: Twelve female carriers were identified, but 1 symptomatic carrier who also had Turner syndrome was excluded from the study. Of the 11 included female carriers, 4 were symptomatic and 7 were asymptomatic. The age at symptom onset in the symptomatic female carriers ranged from 15 to 31 years (mean, 30.6 years), and the age at diagnosis for asymptomatic carriers ranged from 4 to 38 years (mean, 24.5 years). Serum CK levels were markedly elevated (mean, 1,301 IU/mL) in three of the four (75%) symptomatic female carriers, and mildly elevated in three of the seven (42%) asymptomatic female carriers. Symptomatic female carriers typically presented with asymmetric bilateral leg weakness as the initial symptom, with aggravated symptoms after labor. CONCLUSIONS: Female dystrophinopathy is not uncommon, and it is an important factor with respect to males with dystrophinopathy who may be born to such patients. Screening with MLPA is useful because it can aid in early diagnosis and appropriate management.
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spelling pubmed-45073792015-07-21 Clinical and Genetic Characterization of Female Dystrophinopathy Lee, Seung Ha Lee, Jung Hwan Lee, Kyung-A Choi, Young-Chul J Clin Neurol Original Article BACKGROUND AND PURPOSE: Duchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and are classified as symptomatic carriers. The aim of this study was to clinically and genetically characterize symptomatic female dystrophinopathy carriers. METHODS: The clinical and genetic data of 11 female dystrophinopathy carriers among 285 patients who underwent multiplex ligation-dependent probe amplification (MLPA) analysis for the dystrophin gene were reviewed. Women with muscle weakness and/or dilated cardiomyopathy were classified as symptomatic carriers, while subjects with high serum creatine kinase (CK) levels and/or minor myopathic signs such as muscle cramps and myalgia were classified as asymptomatic. RESULTS: Twelve female carriers were identified, but 1 symptomatic carrier who also had Turner syndrome was excluded from the study. Of the 11 included female carriers, 4 were symptomatic and 7 were asymptomatic. The age at symptom onset in the symptomatic female carriers ranged from 15 to 31 years (mean, 30.6 years), and the age at diagnosis for asymptomatic carriers ranged from 4 to 38 years (mean, 24.5 years). Serum CK levels were markedly elevated (mean, 1,301 IU/mL) in three of the four (75%) symptomatic female carriers, and mildly elevated in three of the seven (42%) asymptomatic female carriers. Symptomatic female carriers typically presented with asymmetric bilateral leg weakness as the initial symptom, with aggravated symptoms after labor. CONCLUSIONS: Female dystrophinopathy is not uncommon, and it is an important factor with respect to males with dystrophinopathy who may be born to such patients. Screening with MLPA is useful because it can aid in early diagnosis and appropriate management. Korean Neurological Association 2015-07 2015-07-01 /pmc/articles/PMC4507379/ /pubmed/26022459 http://dx.doi.org/10.3988/jcn.2015.11.3.248 Text en Copyright © 2015 Korean Neurological Association http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Lee, Seung Ha
Lee, Jung Hwan
Lee, Kyung-A
Choi, Young-Chul
Clinical and Genetic Characterization of Female Dystrophinopathy
title Clinical and Genetic Characterization of Female Dystrophinopathy
title_full Clinical and Genetic Characterization of Female Dystrophinopathy
title_fullStr Clinical and Genetic Characterization of Female Dystrophinopathy
title_full_unstemmed Clinical and Genetic Characterization of Female Dystrophinopathy
title_short Clinical and Genetic Characterization of Female Dystrophinopathy
title_sort clinical and genetic characterization of female dystrophinopathy
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507379/
https://www.ncbi.nlm.nih.gov/pubmed/26022459
http://dx.doi.org/10.3988/jcn.2015.11.3.248
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