Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Piriformis syndrome is a rare neuromuscular condition that happens when the piriformis muscle in the butt presses on the ...

The European consortium for Solving the Unsolved Rare Diseases has demonstrated the significance of international ...

Swiss drugmaker Novartis said on Monday its gene therapy helped improve motor function in children with a rare muscle disorder that leaves patients too weak to walk, talk and swallow.

Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA). This condition can cause symptoms including muscle weakness ...

Rithvik wasn’t dealt an easy hand in life. His first symptom — a distended abdomen — was identified during his birth ...

Givinostat (Duvyzat) is the first non-steroid drug approved to treat people with all genetic variations of DMD. It delays the disease's progression by targeting an enzyme involved in muscle growth ...

This includes rare mitochondrial genetic disorders as well as more common diseases such as diabetes, cancer, cardiovascular disease and neurodegenerative disorders – in which lower muscle ...