Genetic testing for DMD gene mutations may be considered MEDICALLY NECESSARY under the following conditions:  In a male with signs and symptoms of a dystrophinopathy in order to confirm the diagnosis and direct treatment.  For at-risk female relatives: o To confirm or exclude the need for cardiac surveillance o For preconception testing to determine the likelihood of an affected offspring in ...

The muscular dystrophies are inherited muscle disorders characterized by weakness and progressive muscle wasting. They can be subdivided in different types, including congenital forms in accordance to distribution of weakness: Duchenne, Becker, Emery-Dreyfuss, limbgirdle, distal, facio-scapulo-humeral, oculofaringeal dystrophy. In this review we will deal with the most recent advances in dystro...

I am delighted to have this opportunity to mark Professor Lord Walton’s outstanding personal contribution to Muscular Dystrophy UK or, as the charity was known when founded in 1959, the Muscular Dystrophy Group of Great Britain and Northern Ireland. It is remarkable that John Walton has maintained such loyal and committed support for the charity over so many years. It is difficult if not imposs...

BACKGROUND To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. METHODS Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. RESULTS Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation a...

(all multiplex PCRs are amplified in ϳ2.5 h, and the capillary gel electrophoresis of the pooled PCR products takes ϳ30 min), easy to perform, detects ϳ99% patients with macrodeletions and 89% with macrodupli-cations, and identifies small insertions or deletions. In conclusion, this method detects Ͼ70% of mutations in DMD/BMD families and can be easily applied to the screening of at-risk female...

X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...

This chapter focuses on the gene therapy advances made in relation to Duchenne muscular dystrophy and discusses principles and perspectives of strategies currently being developed. The chapter explains the genetic mutations that cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and the differences between the two are discussed in relation to disease severity. The histo...

X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...

Duchenne Muscular Dystrophy (DMD) is a severe childhood form of muscular dystrophy. Both the severe form and its milder form of Becker Muscular Dystrophy (BMD) are caused by the mutation of dystrophin gene. Different from some other genetic diseases such as hemophilia that can be treated by replacement therapy, there is no effective therapy for muscular dystrophy in conventional medication. Gen...

Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a matching-to-sample test with four types of visual...