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Facioscapulohumeral Muscular Dystrophies
Continuum, 2019Facioscapulohumeral 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
2001Abstract 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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Congenital muscular dystrophies
2013The 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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Therapeutic approaches for Duchenne muscular dystrophy
Nature Reviews Drug Discovery, 2023Thomas C Roberts, Kay E Davies
exaly