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Duchenne muscular dystrophy [PDF]

Nature Reviews Disease Primers, 2021
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda, Eugenio Mercuri, Annemieke Aartsma-Rus   +4 more
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Duchenne muscular dystrophy [PDF]

BMJ Case Reports, 2014
A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Rajeev Chauhan, Velu Nair, Vineet Behera, Manas Kumar Behera   +3 more
openaire   +5 more sources

Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels

Frontiers in Cell and Developmental Biology, 2022
In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy, Florian Barthélémy, Jeffrey W. Santoso, Laura Rabichow, Laura Rabichow, Rongcheng Jin, Isaiah Little, Isaiah Little, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Megan L. McCain, Megan L. McCain, M. Carrie Miceli, M. Carrie Miceli   +14 more
doaj   +1 more source

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

The quality of life in boys with Duchenne muscular dystrophy [PDF]

, 2016
We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living
Ashrafi, M.R., Azizi Malamiri, R., Fathi, M.R., Heidari, M., Hosseini, S.A., Mohammadi, M., Qorbani, M., Salehi, S., Shahrokhi, A., Shervin Badv, R., Zamani, G.   +10 more
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Feasibility and tolerability of whole-body, low-intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study. [PDF]

, 2017
IntroductionDystrophinopathies are X-linked muscle degenerative disorders that result in progressive muscle weakness complicated by bone loss. This study's goal was to evaluate feasibility and tolerability of whole-body, low-intensity vibration (WBLIV ...
Grames, Molly, Hodges, James S, Karachunski, Peter, Lowe, Dawn A, Petryk, Anna, Polgreen, Lynda E   +5 more
core   +1 more source

Duchenne muscular dystrophy [PDF]

Biochemical Society Transactions, 1984
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
openaire   +6 more sources

Tadalafil Treatment Delays the Onset of Cardiomyopathy in Dystrophin‐Deficient Hearts

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundCardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has ...
David W. Hammers, Margaret M. Sleeper, Sean C. Forbes, Ai Shima, Glenn A. Walter, H. Lee Sweeney   +5 more
doaj   +1 more source