Explore the latest in muscular dystrophy, including recent advances in understanding the genetics and etiology of child and adult forms.
This case report of an 18-year-old man with Duchenne musclar dystrophy highlights the potential adverse effects associated with changing between corticosteroid classes in Duchenne musclar dystrophy cardiomyopathy.
This case series describes a relatively large cohort of patients with uveal melanoma associated with myotonic dystrophy, including a case of iris melanoma, and myotonic dystrophy–associated uveal melanoma in relatives.
This cohort study aims to develop and validate a prognostic score to predict 10-year survival in patients with myotonic dystrophy type 1.
This case series identifies genetic variants associated with titinopathy in patients with muscle disorders and describes a workflow for a more straightforward and reproducible interpretation of the clinical meaning of titin variants.
This Viewpoint discusses recent changes in the ownership of deflazacort, a drug important in the treatment of Duchenne muscular dystrophy, and advocates for fairer pricing.
A woman in her 50s was referred to genetic consultation owing to mitochondrial myopathy or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy suspicion based on brain magnetic resonance imaging and was diagnosed as having myotonic dystrophy type 1.
This study quantitates the baseline prevalence and longitudinal incidence of conduction abnormalities and left ventricular dysfunction during intermediate-term follow-up of a cohort of patients with myotonic muscular dystrophy.
This Viewpoint discusses controversies surrounding the US Food and Drug Administration’s 2016 approval of eteplirsen for treatment of Duchenne muscular dystrophy.
This Viewpoint discusses the use of exon skipping therapies eteplirsen and drisapersen in Duchenne muscular dystrophy.
This review examines reports from 10 newborn screening programs that screened more than 1.8 million newborns for Duchenne muscular dystrophy and identifies other neuromuscular disorders and false-negative findings.
This study translates whole-exome sequencing to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder.
This Viewpoint discusses the use of racial and other descriptors in medical histories.
Serra et al use functional magnetic resonance imaging to assess the potential relationship between personality traits/disorders and changes to functional connectivity within the default mode network in patients with myotonic dystrophy type 1 (DM1).
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: