muscular dystrophy

Some individuals with limb-girdle muscular weakness, a hallmark symptom of a type of muscular dystrophy, may instead be found to have Pompe disease by genetic panel testing, according to a new study with data from more than 2,000 patients in 21 countries. That testing used next-generation sequencing, or NGS,…

Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset Pompe disease and those without the disease, and between patients with and without symptoms, a study reports. These findings suggest that monitoring PDGF-BB could help track disease progression and determine…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanetdefine as including Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…