Background Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. Findings We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this...

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...

Recent advances in our understanding of the biology of muscle have led to new interest in the pharmacological treatment of muscle wasting. Loss of muscle mass and increased intramuscular fibrosis occur in both sarcopenia and muscular dystrophy. Several regulators (mammalian target of rapamycin, serum response factor, atrogin-1, myostatin, etc.) seem to modulate protein synthesis and degradation...

Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to premature death. This case report describes the genetic, oral and systemic findings ...

The collagen type VI-related disorders are nowadays considered to be a continuum of overlapping phenotypes with Bethlem myopathy at the mild end and Ullrich congenital muscular dystrophy (UCMD) at the severe end. In between these phenotypes there are collagen type VI-related limb-girdle muscular dystrophy and myosclerosis myopathy. Most cases of Bethlem myopathy have autosomal dominant inherita...

Three patients with Emery Dreifuss muscular dystrophy are reported. Emery Dreifuss muscular dystrophy is an X linked muscular dystrophy, in which locomotor involvement is characteristically mild and slowly progressive. The effect on the heart becomes apparent in the teenage years and is characterised by cardiac conduction defects and infiltration of the myocardium by fibrous and adipose tissue....

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...

1. Mostacciuolo M, Pastorello E, Vazza G et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009: 75: 550–555. 2. Lemmers RJLF, Van der Vliet PJ, Klooster R et al. A unifying genetic model for fascioscapulohumeral muscular dystrophy. Science 2010: 329: 1650–1653. 3. Scionti I, Greco F, Ricci G et al. Large-sca...

Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics 1975 ;55 :30-4. 2 Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol (in press). 3 Beckmann R, Scheuerbrandt G. Muskeldystrophie (Duchenne)Friiherkennung, CK-Screeningtest, Konsequenzen. Der Kinderarzt 1977;8 :313-...

A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...