Background Purpose Methods Formation of Consensus Committee Methodologies for Synthesizing Expert Consensus Evaluation and Anticipatory Guidance of the Patient with DMD Routine Evaluation of Respiratory Function End of Life Directives Nutrition Sleep Evaluation Cardiac Involvement Management Airway Clearance Respiratory Muscle Training Noninvasive Nocturnal Ventilation Daytime Noninvasive Ventilation Continuous Invasive Ventilation Scoliosis in DMD Corticosteroids in Management of DMD Patient Education Long-term Care Issues End of Life Care

Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin : A model for Duchenne muscular dystrophy

http://www.distrofiamuscular.net/telomeres_stem.pdf

Short Telomeres and Stem Cell Exhaustion Model Duchenne Muscular Dystrophy in mdx/mTR Mice

The British Thoracic Society guideline for respiratory management of children with neuromuscular weakness summarises the available evidence in this field and provides recommendations that will aid healthcare professionals in delivering good quality patient care.

https://thorax.bmj.com/content/thoraxjnl/67/Suppl_1/i1.full.pdf

British Thoracic Society guideline for respiratory management of children with neuromuscular weakness

Muscle fibers attach to laminin in the basal lamina using two distinct mechanisms: the dystrophin glycoprotein complex and the α7β1 integrin. Defects in these linkage systems result in Duchenne muscular dystrophy (DMD), α2 laminin congenital muscular dystrophy, sarcoglycan-related muscular dystrophy, and α7 integrin congenital muscular dystrophy. Therefore, the molecular continuity between the extracellular matrix and cell cytoskeleton is essential for the structural and functional integrity of skeletal muscle. To test whether the α7β1 integrin can compensate for the absence of dystrophin, we expressed the rat α7 chain in mdx/utr−/− mice that lack both dystrophin and utrophin. These mice develop a severe muscular dystrophy highly akin to that in DMD, and they also die prematurely. Using the muscle creatine kinase promoter, expression of the α7BX2 integrin chain was increased 2.0–2.3-fold in mdx/utr−/− mice. Concomitant with the increase in the α7 chain, its heterodimeric partner, β1D, was also increased in the transgenic animals. Transgenic expression of the α7BX2 chain in the mdx/utr−/− mice extended their longevity by threefold, reduced kyphosis and the development of muscle disease, and maintained mobility and the structure of the neuromuscular junction. Thus, bolstering α7β1 integrin–mediated association of muscle cells with the extracellular matrix alleviates many of the symptoms of disease observed in mdx/utr−/− mice and compensates for the absence of the dystrophin- and utrophin-mediated linkage systems. This suggests that enhanced expression of the α7β1 integrin may provide a novel approach to treat DMD and other muscle diseases that arise due to defects in the dystrophin glycoprotein complex. A video that contrasts kyphosis, gait, joint contractures, and mobility in mdx/utr−/− and α7BX2-mdx/utr−/−mice can be accessed at http://www.jcb.org/cgi/content/full/152/6/1207.

https://rupress.org/jcb/article-pdf/152/6/1207/1297404/0010131.pdf

Enhanced Expression of the α7β1 Integrin Reduces Muscular Dystrophy and Restores Viability in Dystrophic Mice

To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, longitudinal series of spinal radiographs and medical records of 46 patients with DMD were reviewed. The natural course of the deformity was classified into three types; type 1 (n=21), unremittent progression of scoliosis with kyphosis; type 2 (n=18), transition from kyphosis to lordosis before age 15 years; and type 3 (n=7), less deformity without prominent longitudinal changes. Age at loss of ambulatory ability was not a predictor of type. Neither was the age at which the Cobb angle was 30 o correlated with the rate of subsequent progression

Susumu Kyoh

Papers

Longitudinal study of spinal deformity in Duchenne muscular dystrophy.