Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identi...

Duchenne muscular dystrophy (DMD) is caused by mutation in the dystrophin gene. In DMD, only male carrying the mutated DMD gene is affected while female becomes carrier of the disease because of the X-linked recessive characteristics of the disorder. About one-third of DMD cases show de novo mutations, while the rest are inherited through carrier others or arise from germlinemosaicism. The reco...

BACKGROUND Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, especially in rare diseases such as DMD/BMD. METHODS We developed a national reg...

Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle disorder characterized by muscle wasting which is caused by mutations in the DMD gene. The DMD gene encodes the sarcolemmal protein dystrophin, and loss of dystrophin causes muscle degeneration and necrosis. Thus far, therapies for this disorder are unavailable. However, various therapeutic trials based on gene therapy, exon ski...

OBJECTIVE To examine parental stress in mothers of boys with Duchenne muscular dystrophy (DMD). METHOD Stress and its predictors were examined in mothers of boys with DMD (n = 112). Comparisons were made with mothers of healthy children (n = 800), children with cerebral palsy (CP; n = 28), siblings of boys with DMD (n = 46), and longitudinally (n = 16). RESULTS The presence of problem child...

BACKGROUND Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5-4.11 years). AIM To review the diagnostic process for DMD in boys without a family history in order to identify where delays occur and suggest areas for improvement. DESIGN A retrospective case note review. SETTING A tertiary centre for neuromu...

Duchenne Muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene, which is located in Xp21. The majority of the identified mutations are large deletions and duplications, and gene dosage assays were developed for quantitative genomic screening of copy number variations. However, remaining 25% of the DMD are due to point mutations and require direct ...

Aero-optical beam control relies on the development of low-latency forecasting techniques to quickly predict wavefronts aberrated by turbulent boundary layer around an airborne optical system, and its study applies a multidomain need from astronomy microscopy for high-fidelity laser propagation. We leverage capabilities dynamic mode decomposition (DMD) — equation-free, data-driven method identi...

The aim of this article was to describe Descemet's membrane detachment (DMD) following phacoemulsification in five equine eyes and to review the human literature on this topic. In the last decade, there has been increased reporting of DMD in the human literature, in particular following cataract surgery. The natural history of DMD remains unknown and although various medical and surgical treatm...