title: Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.
abstract: Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades.
authors.affiliation: The Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Wein
authors.affiliation: The Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Physical Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
authors.forename: Lindsay
authors.initials: L
authors.lastname: Alfano
authors.affiliation: The Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatrics, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA; Department of Neurology, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address: kevin.flanigan@nationwidechildrens.org.
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Flanigan
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D009154:Mutation / Q000235:genetics
chemical_list: D000305:Adrenal Cortex Hormones; D016189:Dystrophin
keywords: Becker; DMD gene; Duchenne; Dystrophin; Exon skipping; Gene therapy; Muscular dystrophy; Nonsense suppression