John Brandsema, MD, a pediatric neurologist at Children’s Hospital of Philadelphia, speaks with Healio about the current understanding of the genetic factors behind muscular dystrophy.

John Brandsema, MD, a pediatric neurologist at Children’s Hospital of Philadelphia, speaks with Healio about the importance of early diagnosis of muscular dystrophy.

New research has uncovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1), a ...

A recent discovery of a molecular connection between autism and myotonic dystrophy, a type of neuromuscular disease, may provide a breakthrough on how clinicians approach autism spectrum disorder.

Here are the causes and treatment for the congenital disorder ... about the causes of any type of muscular dystrophy. In 1986, researchers supported by the Muscular Dystrophy Association identified a ...

Get Instant Summarized Text (Gist) Gene therapy for Duchenne muscular dystrophy (DMD) faces challenges as the immune system may hinder its effectiveness. A large-scale trial showed that the ...

Genetic screening for CTG18.1 expansions can identify patients at elevated risk of vision loss secondary to Fuchs endothelial corneal dystrophy (FECD), according to research published in JAMA ...

Givinostat slows the progress of Duchenne muscular dystrophy (DMD) and is being provided free to the NHS by manufacturers after being cleared for use in the UK last year. However Scottish health ...

We might expect that for an X-linked lethal recessive disorder (e.g. Duchenne Muscular Dystrophy ... light on how the underlying genetic defect leads to diverse congenital anomalies and ...

GENOMIC analysis of 11,555 congenital heart disease (CHD) probands identified 60 dominant genes contributing to 10.1% of cases, with equal contributions from inherited and spontaneous mutations, ...

Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany Professor S Rudnik-Schöneborn, Institute of Human Genetics, Technical University ... Previous case reports of SMA I ...

males with loss-of-function variants in NONO may also be predisposed to developing congenital heart defects and LVNC with the penetrance of these cardiac-related problems being influenced by genetic, ...