Explore the latest in muscular dystrophy, including recent advances in understanding the genetics and etiology of child and adult forms.
This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
This randomized clinical trial investigates the efficacy and safety of partial receptor agonist vamorolone compared with placebo and prednisone in boys with Duchenne muscular dystrophy.
This randomized clinical trial compares the efficacy and adverse effects of the 3 most frequently prescribed corticosteroid regimens for boys with Duchenne muscular dystrophy.
This case report examines the use of systemic gentamicin as a translational readthrough inducer for the treatment of epidermolysis bullosa simplex with muscular dystrophy owing to PLEC1 pathogenic nonsense variants.
This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment.
A 28-year-old man with Duchenne muscular dystrophy but no ophthalmic history presents with recent visual acuity loss. What would you do next?
This Viewpoint discusses the history of newborn screening for Duchenne muscular dystrophy, new molecular therapies, and a national program of newborn screening.
This case-control study uses magnetic resonance imaging and spectroscopy to evaluate the association between treatment with recombinant adeno-associated virus serotype rh74 (rAAVrh74) and muscle quality in children with Duchenne muscular dystrophy.
This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
This phase 2 randomized clinical trial evaluates the safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping
This cross-sectional study investigates the clinical expression of facioscapulohumeral muscular dystrophy (FSHD) in the genetic subgroup of carriers of D4Z4 reduced allele with 7 to 8 repeat units.
This cohort study applies a heuristic, analytical procedure using z scores to data from 2 independent trials with multiple end points that examined whether ataluren is beneficial vs placebo for treating patients with Duchenne muscular dystrophy.
This randomized clinical trial evaluates the effect of treatment with a combination of L-citrulline and metformin on the motor function of ambulant boys with Duchenne muscular dystrophy.
This case report describes a severe adverse event following antisense oligonucleotide treatment for muscular dystrophy that occurred in 6 pediatric patients.
This Special Communication discusses challenges to implementing newborn screening for neuromuscular diseases and how overcoming those challenges can maximize the potential of newly available life-saving therapies.
This study analyzes the fracture burden and growth impairment in a large contemporary cohort of boys with Duchenne muscular dystrophy in the United Kingdom and in relation to glucocorticoid regimen.
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.
Customize your JAMA Network experience by selecting one or more topics from the list below.