BACKGROUND Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients. However an acute perforated gastro-duodenal peptic ulcer has not been documented up to now. CASE PRESENTATION A 26-year-old male with Duchenne muscular dystrophy with a ...

A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of...

BACKGROUND Fat embolism syndrome is the result of systemic manifestations of fat emboli in the microcirculation. Duchenne muscular dystrophy is a condition that increases the risk of fracture resulting in fat emboli. CASE REPORT We describe a patient with Duchenne muscular dystrophy who exhibited cardiopulmonary, neurologic, and ophthalmologic sequelae consistent with fat emboli syndrome afte...

We analyzed quantitative maps of T1 and T2 relaxation times and muscle fat fraction measurements in magnetic resonance imaging of the upper arm skeletal muscles and heart in ambulatory boys with Duchenne muscular dystrophy and age-range-matched healthy volunteer boys. The cardiac-optimized sequences detected fatty infiltration and edema in the upper arm skeletal muscles but not the myocardium i...

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 ...

Enjoyment smiles are more often associated with the simultaneous presence of the Cheek raiser and Lip corner puller action units, and these units' activation is more often symmetric. Research on the judgment of smiles indicated that individuals are sensitive to these types of indices, but it also suggested that their ability to perceive these specific indices might be limited. The goal of the c...

• duchenne muscular dystrophy o onset 3 to 5 yrs o clinical § weakness o distribution § proximal > distal § symmetric § legs & arms § most involved muscles: adductor magnus in legs § relatively spared muscles: gracilis & sartorius o course § reduced motor function by 2 to 3 years § steady decline in strength: after 6 to 11 years o gowers sign: standing up with the aid of hands pushing on knees ...

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...

Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.

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...