A survey of European patient organisations confirms the value of neonatal screening in neuromuscular diseases

The majority of neuromuscular diseases are genetic and were for this reason considered incurable for a very long time. The arrival of innovative biotherapies is bringing about change, especially in spinal muscular atrophy. As a result, the question of neonatal screening for these diseases becomes even more acute. Treatments administered at a presymptomatic stage have been shown to be effective in a number of these diseases. 

In an article published in February 2021, the Advisory Committee of Patient Associations of the Euro-NMD Reference Network reports the results of a survey of 30 neuromuscular patient associations located in 18 European countries. An inventory of current practices was carried out concerning prenatal diagnosis and systematic screening at birth. The vast majority of associations (28/30) were in favor of one form or another of screening, most often (21/28) the need to keep it as an option. Newborn screening was the most popular method, particularly for optimizing the effectiveness of treatments. However, the level of information on all these techniques remains uneven from one country to another, proving that all the needs in this area have not yet been met. The questions of how to pay for such tests and access to innovative treatments that should in theory go hand in hand, are the main obstacles identified in the survey. 


Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe. F Lamy, A Ferlini, ERN EURO-NMD Patient Advisory Board; Teresinha Evangelista. Orphanet J Rare Dis. 2021 (Fev).16(1):75.