Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in
2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved …

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due
to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and …

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …

Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …

Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

Objective Limb‐girdle muscular dystrophies (LGMD s), one of the most heterogeneous
neuromuscular disorders (NMD s), involves predominantly proximal‐muscle weakness …

Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …

Importance Early-life epilepsies are often a consequence of numerous neurodevelopmental
disorders, most of which are proving to have genetic origins. The role of genetic testing in …

As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …