Muscular Dystrophy, Duchenne

Publication Title: 
JAMA neurology

Importance: Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans.

Author(s): 
Long, Chengzu
Amoasii, Leonela
Bassel-Duby, Rhonda
Olson, Eric N.
Publication Title: 
Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases

Muscular dystrophies such as Duchenne muscular dystrophy (DMD) are usually approached as dysfunctions of the affected skeletal myofibres and their force transmission. Comparatively little attention has been given to the increase in connective tissue (fibrosis) which accompanies these muscular changes. Interestingly, an increase in endomysial tissue is apparent long before any muscular degeneration can be observed. Fibrosis is the result of a reactive or reparative process involving mechanical, humoral and cellular factors.

Author(s): 
Klingler, Werner
Jurkat-Rott, Karin
Lehmann-Horn, Frank
Schleip, Robert
Publication Title: 
Jornal Brasileiro De Pneumologia: Publicaça̋o Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

OBJECTIVE: Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, and children with DMD die prematurely because of respiratory failure. We sought to determine the efficacy and safety of yoga breathing exercises, as well as the effects of those exercises on respiratory function, in such children. METHODS: This was a prospective open-label study of patients with a confirmed diagnosis of DMD, recruited from among those followed at the neurology outpatient clinic of a university hospital in the city of São Paulo, Brazil.

Author(s): 
Rodrigues, Marcos Rojo
Carvalho, Celso Ricardo Fernandes
Santaella, Danilo Forghieri
Lorenzi-Filho, Geraldo
Marie, Suely Kazue Nagahashi
Publication Title: 
Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases

Muscular dystrophies such as Duchenne muscular dystrophy (DMD) are usually approached as dysfunctions of the affected skeletal myofibres and their force transmission. Comparatively little attention has been given to the increase in connective tissue (fibrosis) which accompanies these muscular changes. Interestingly, an increase in endomysial tissue is apparent long before any muscular degeneration can be observed. Fibrosis is the result of a reactive or reparative process involving mechanical, humoral and cellular factors.

Author(s): 
Klingler, Werner
Jurkat-Rott, Karin
Lehmann-Horn, Frank
Schleip, Robert
Publication Title: 
Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases

Muscular dystrophies such as Duchenne muscular dystrophy (DMD) are usually approached as dysfunctions of the affected skeletal myofibres and their force transmission. Comparatively little attention has been given to the increase in connective tissue (fibrosis) which accompanies these muscular changes. Interestingly, an increase in endomysial tissue is apparent long before any muscular degeneration can be observed. Fibrosis is the result of a reactive or reparative process involving mechanical, humoral and cellular factors.

Author(s): 
Klingler, Werner
Jurkat-Rott, Karin
Lehmann-Horn, Frank
Schleip, Robert
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