A new study published in the Orphanet Journal of Rare Diseases aimed to evaluate the state of play of screening for inherited rare neuromuscular diseases in Europe and patients’ needs. The patient advisory board of the European Reference Network for Rare Neuromuscular Diseases (NMD) conducted a survey on patient organisations’ knowledge on screening for inherited neuromuscular diseases in Europe with 30 patient organisations (POs) from 18 European countries. This study revealed that most patient organisations were in favour of systematic screening with the option to opt-out and identified early access to treatment as the main priority to perform screening for NMDs. This study highlighted the need of an international coordination leading to a common policy to harmonise the screening for inherited neuromuscular diseases amongst European countries.
(source: OrphaNet 10 May 2021)