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Clinical and Genetic Characterization of Female Dystrophinopathy.

Lee SH, Lee JH, Lee KA, Choi YC - J Clin Neurol (2015)

Bottom Line: Symptomatic female carriers typically presented with asymmetric bilateral leg weakness as the initial symptom, with aggravated symptoms after labor.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Results of multiplex ligation-dependent probe amplification analysis of the dystrophin gene in women with dystrophinopathy.
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Figure 1: Results of multiplex ligation-dependent probe amplification analysis of the dystrophin gene in women with dystrophinopathy.

Mentions: Of the 285 patients (230 men and 55 women) who were screened for dystrophin gene mutations, 104 men and 12 women with mutations were identified; 1 symptomatic female carrier who also had Turner syndrome was excluded. Among the included 11 female carriers, 4 were symptomatic and 7 were asymptomatic (Fig. 1). The most common reason for asymptomatic female carriers visiting the hospital was a family history of muscular dystrophy. The clinical presentations and detected gene mutations in symptomatic female carriers are summarized in Table 1.


Clinical and Genetic Characterization of Female Dystrophinopathy.

Lee SH, Lee JH, Lee KA, Choi YC - J Clin Neurol (2015)

Results of multiplex ligation-dependent probe amplification analysis of the dystrophin gene in women with dystrophinopathy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4507379&req=5

Figure 1: Results of multiplex ligation-dependent probe amplification analysis of the dystrophin gene in women with dystrophinopathy.
Mentions: Of the 285 patients (230 men and 55 women) who were screened for dystrophin gene mutations, 104 men and 12 women with mutations were identified; 1 symptomatic female carrier who also had Turner syndrome was excluded. Among the included 11 female carriers, 4 were symptomatic and 7 were asymptomatic (Fig. 1). The most common reason for asymptomatic female carriers visiting the hospital was a family history of muscular dystrophy. The clinical presentations and detected gene mutations in symptomatic female carriers are summarized in Table 1.

Bottom Line: Symptomatic female carriers typically presented with asymmetric bilateral leg weakness as the initial symptom, with aggravated symptoms after labor.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus