INTRODUCTION Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental. CASE PRESENTATION ...

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...

A Research Highlight in the February issue (A novel imaging method to quantify low levels )1 presented of dystrophin in Duchenne muscular dystrophy. Nat. Rev. Neurol. 8, 120; 2012 findings on a new method for rapid dystrophin quantification in Duchenne muscular dystrophy (DMD)2. Although of interest, we believe that caution is required in the interpretation of dystrophin measurements obtained u...

1. Emery A. Duchenne muscular dystrophy or Meryon’s disease. Lancet 2001;357:1529. 2. Mavrogeni S, Spargias C, Bratis C, et al. Myocarditis as a precipitating factor for heart failure: evaluation and 1-year follow-up using cardiovascular magnetic resonance and endomyocardial biopsy. Eur J Heart Fail 2011;13:830–7. 3. Bobo JK, Kenneson A, Kolor K, Brown MA. Adherence to American Academy of Pedia...

Duchenne muscular dystrophy is known to be caused by a defective gene of dystrophin, a 427-kDa cytoskeletal protein, but the effective therapeutic drug is presently unavailable. We previously reported that a trypsin-like protease designated as dystrypsin is markedly activated in the muscle microsomal fraction immediately before onset of the clinical signs in mdx mice, a dystrophin-deficient her...

The Becker and Duchenne Muscular Dystrophy Test provides a high quality read-out of all exons of DMD gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and Express service TAT 7-10 days). The Becker and Duchenne Muscular Dystrophy Test ha...

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy...

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of ac...

espite recent research developments, Duchenne muscular dystrophy remains a fatal neuromuscular disease, affecting two to three boys in 10,000. It is an inherited X-linked recessive condition caused by a frameshift mutation in the dystrophin gene at the Xp21.2 locus of the X chromosome. Dystrophin is a large cell-membrane protein involved in calcium transport in the muscle cell. Boys with Duchen...

Duchenne muscular dystrophy, a debilitating disease affecting male cIdldren, presents special considerations for the dentist faced with an oral-surgical problem. When general anesthesia is contraindicated, local anesthesia and a change in technique is indicated. One technique of outpatient surgical management of an odontogenic keratocyst, in a patient with Duchenne muscular dystrophy, is descri...