scholarly journals Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

2020 ◽  
Author(s):  
Keyword(s):  
Muscular Dystrophy ◽  
Symptomatic Form ◽  
Female Carriers

scholarly journals X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 919 ◽  
Author(s):  
Viggiano ◽  
Madej-Pilarczyk ◽  
Carboni ◽  
Picillo ◽  
Ergoli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Fibrous Tissue ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Cardiac Conduction ◽  
Asymptomatic Carriers ◽  
Cardiac Symptoms ◽  
Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

FEMALE CARRIERS OF MUSCULAR DYSTROPHY

The Lancet ◽  
1966 ◽  
Vol 287 (7448) ◽  
pp. 1216-1217 ◽  
Author(s):  
Sabina Kowalewski ◽  
H.W. Rotthauwe ◽  
Elisabeth Mölbert ◽  
M. Mumenthaler
Keyword(s):  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy

2020 ◽  
Vol 11 ◽  
Author(s):  
Jiapeng Zhang ◽  
Qi Meng ◽  
Jingzi Zhong ◽  
Min Zhang ◽  
Xiao Qin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Female Carriers

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy

2019 ◽  
Vol 29 (7) ◽  
pp. 487-496 ◽  
Author(s):  
Corinna Preuße ◽  
Arpad von Moers ◽  
Heike Kölbel ◽  
Debora Pehl ◽  
Hans-Hilmar Goebel ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Cardiac Emerinopathy

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Taisuke Ishikawa ◽  
Hiroyuki Mishima ◽  
Julien Barc ◽  
Masanori P. Takahashi ◽  
Keiichi Hirono ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Left Ventricular ◽  
Cardiac Conduction ◽  
Conduction Disturbance ◽  
Ventricular Noncompaction ◽  
Increased Risk ◽  
Genes Encoding ◽  
History Of ◽  
Cardiac Conduction Defect ◽  
Female Carriers

Background: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the contrary, the phenotypic spectrums of EMD mutations are less clear. Our aims were to determine the prevalence of nonsyndromic forms of emerinopathy, which may underlie genetically undefined isolated cardiac conduction disturbance, and the etiology of thromboembolic complications associated with EMD mutations. Methods: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). Results: We identified 3 X-linked recessive EMD mutations (start-loss, splicing, missense) in families with cardiac conduction disease. All 3 probands shared a common clinical phenotype of progressive atrial arrhythmias that ultimately resulted in atrial standstill associated with left ventricular noncompaction (LVNC), but they lacked early contractures and progressive muscle wasting and weakness characteristic of Emery-Dreifuss muscular dystrophy. Because the association of LVNC with EMD has never been reported, we further genetically screened 102 LVNC patients and found a frameshift EMD mutation in a boy with progressive atrial standstill and LVNC without complications of muscular dystrophy. All 6 male EMD mutation carriers of 4 families underwent pacemaker or defibrillator implantation, whereas 2 female carriers were asymptomatic. Notably, a strong family history of stroke observed in these families was probably due to the increased risk of thromboembolism attributable to both atrial standstill and LVNC. Conclusions: Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism.

scholarly journals Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

2007 ◽  
Vol 65 (1) ◽  
pp. 73-76 ◽  
Author(s):  
Aline Andrade Freund ◽  
Rosana Herminia Scola ◽  
Raquel Cristina Arndt ◽  
Paulo José Lorenzoni ◽  
Claudia Kamoy Kay ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscular Atrophy ◽  
Hot Spot ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Congenital Myopathy ◽  
Specific Method ◽  
Dystrophin Deficiency ◽  
Muscle Biopsies ◽  
Female Carriers

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains). The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.

scholarly journals Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy

2011 ◽  
Vol 52 (1) ◽  
pp. 192 ◽  
Author(s):  
Tae-Jin Song ◽  
Kyung-A Lee ◽  
Seong-Woong Kang ◽  
Hanna Cho ◽  
Young-Chul Choi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers
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