PURPOSE OF REVIEW: With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates. This article discusses the epidemiology, clinical features, and diagnosis of these disorders. RECENT FINDINGS: Some important recent advancements include (1) a much greater understanding of the pathogenetic pathways underlying facioscapulohumeral muscular dystrophy and myotonic dystrophy type 1; (2) the publication of diagnostic and treatment guidelines for Duchenne muscular dystrophy; and (3) further clarification of the many genetic muscle disorders presenting a limb-girdle pattern of weakness. SUMMARY: Muscular dystrophies are genetic, progressive, degenerative disorders with the primary symptom of muscle weakness. Duchenne, Becker, facioscapulohumeral, and myotonic muscular dystrophies are most prevalent and tend to have distinctive features helpful in diagnosis. The limb-girdle, Emery-Dreifuss, and oculopharyngeal muscular dystrophies are less common but often may also be diagnosed on the basis of phenotype. Researchers hope to help patients with future discoveries effective in slowing or halting disease progression, reversing or preventing underlying mechanisms, and repairing previously damaged muscle.
PURPOSE OF REVIEW: With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates. This article discusses the epidemiology, clinical features, and diagnosis of these disorders. RECENT FINDINGS: Some important recent advancements include (1) a much greater understanding of the pathogenetic pathways underlying facioscapulohumeral muscular dystrophy and myotonic dystrophy type 1; (2) the publication of diagnostic and treatment guidelines for Duchenne muscular dystrophy; and (3) further clarification of the many genetic muscle disorders presenting a limb-girdle pattern of weakness. SUMMARY:Muscular dystrophies are genetic, progressive, degenerative disorders with the primary symptom of muscle weakness. Duchenne, Becker, facioscapulohumeral, and myotonic muscular dystrophies are most prevalent and tend to have distinctive features helpful in diagnosis. The limb-girdle, Emery-Dreifuss, and oculopharyngeal muscular dystrophies are less common but often may also be diagnosed on the basis of phenotype. Researchers hope to help patients with future discoveries effective in slowing or halting disease progression, reversing or preventing underlying mechanisms, and repairing previously damaged muscle.
Authors: Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira Journal: Curr Rev Musculoskelet Med Date: 2015-06
Authors: M V Pelatti; J P A Gomes; N M S Vieira; E Cangussu; V Landini; T Andrade; M Sartori; L Petrus; Mayana Zatz Journal: Stem Cell Rev Rep Date: 2016-08 Impact factor: 5.739
Authors: Kristin Wilson; Crystal Faelan; Janet C Patterson-Kane; Daniel G Rudmann; Steven A Moore; Diane Frank; Jay Charleston; Jon Tinsley; G David Young; Anthony J Milici Journal: Toxicol Pathol Date: 2017-10-03 Impact factor: 1.902
Authors: Pat Furlong; John F P Bridges; Lawrence Charnas; Justin R Fallon; Ryan Fischer; Kevin M Flanigan; Timothy R Franson; Neera Gulati; Craig McDonald; Holly Peay; H Lee Sweeney Journal: Orphanet J Rare Dis Date: 2015-06-24 Impact factor: 4.123
Authors: Anchel González-Barriga; Bram Nillessen; Julia Kranzen; Ingeborg D G van Kessel; Huib J E Croes; Begoña Aguilera; Peter C de Visser; Nicole A Datson; Susan A M Mulders; Judith C T van Deutekom; Bé Wieringa; Derick G Wansink Journal: Nucleic Acid Ther Date: 2017-04-04 Impact factor: 5.486