Female Carriers of Duchenne Muscular Dystrophy

• 발행기관: 대한의학유전학회
• 저자명: Yu Na Cho Young Chul Choi
• 간행물 정보: 『대한의학유전학회지』제10권 제2호, 94~98쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.10.31

영문 초록

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

목차

Abstract

Introduction

What is dystrophinopathies?

Dystrophinopathies in female patients

Clinical presentation of female carrier of DMD

Imaging evaluation of female carrier of DMD

Insights of diagnostic strategies of female carrier of DMD: diagnosis, novel pathological and genetic evidence

Conclusion

References

키워드

Dystrophinopathy Duchenne muscular dystrophy Female carrier Multiplex ligation-dependent probe amplification