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Muscular Dystrophy Model

2018
Muscular dystrophy (MD) is a group of muscle weakness disease involving in inherited genetic conditions. MD is caused by mutations or alteration in the genes responsible for the structure and functioning of muscles. There are many different types of MD which have a wide range from mild symptoms to severe disability.
Saranyapin, Potikanond   +3 more
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Duchenne muscular dystrophy

Current Treatment Options in Neurology, 2001
Duchenne muscular dystrophy (DMD) is not treatable; there is no cure. More than a decade ago, randomized trials demonstrated that oral steroid therapy was of benefit to DMD patients by prolonging ambulation. Although few significant side effects were reported, study patients were followed for 18 months or less. However, when treating DMD with steroids,
Susan T., Iannaccone, Zohair, Nanjiani
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Duchenne muscular dystrophy

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 ...
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The Muscular Dystrophies

Seminars in Neurology, 2012
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset.
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Congenital Muscular Dystrophies

Neurologic Clinics, 1988
The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders.
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Facioscapulohumeral Muscular Dystrophies

Continuum, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials.As the name implies, FSHD involves weakness of facial muscles, muscles that fix the
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Congenital muscular dystrophies

2001
Abstract The clinical diversity of CMD is suggested by the different degrees of motor develop- mental delay, physical disability and muscle pathology, and by the variable presence of mental retardation. Most of the efforts aimed at delineating and subdividing the various CMD forms have originated from the International Consortium on CMD,
Eugenio Mercuri, Francesco Muntoni
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Duchenne muscular dystrophy

Nature Reviews Disease Primers, 2021
Dongsheng Duan   +2 more
exaly  

Congenital muscular dystrophies

2013
The congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy ...
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