Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

Table 2 Availability of screening methods for neuromuscular diseases

Country	Type of organisation	Is PGD available?	Includes NMD?	Is PNS in place?	Includes NMD?	Is NBS in place?	Includes NMD?
BE	Disease specific	Yes	Yes	Yes	Yes	Yes	Yes
BG	All NMD	Yes	Yes	Yes	Yes	Yes	Yes
CZ	Disease specific	No	No	Yes	No	Yes	No
DK	All NMD	No	No	Yes	No	Yes	No
FR	Disease specific	Yes	Yes	Yes	Yes	No	No
FR	All NMD	Yes	Yes	Yes	Yes	Yes	No
DE	All NMD	Yes	Yes	Yes	Yes	Yes	No
GR	All NMD	Yes	Yes	Yes	Yes	Yes	Yes
IT	Disease specific	No	No	Yes	Yes	Yes	Yes
LU	All NMD	No	No	Yes	No	Yes	No
NL	All NMD	Yes	Yes	No	No	Yes	No
MK	Disease specific	No	No	Yes	Yes	No	No
MK	All NMD	No	No	Yes	Yes	No	No
PL	All NMD	No	No	Yes	Yes	Yes	No
PT	All NMD	Yes	No	No	No	Yes	No
RO	Disease specific	No	No	Yes	No	Yes	No
RO	Disease specific	Yes	Yes	Yes	Yes	Yes	Yes
RS	Disease specific	No	No	Yes	No	No	No
ES	All NMD	No	No	No	No	No	No
ES	Disease specific	No	No	Yes	No	Yes	No
ES	Disease specific	No	No	Yes	No	Yes	No
ES	All NMD	Yes	Yes	Yes	Yes	Yes	Yes
ES	Disease specific	Yes	Yes	No	No	Yes	Yes
ES	Disease specific	Yes	Yes	Yes	Yes	Yes	Yes
ES	All NMD	Yes	Yes	Yes	Yes	Yes	Yes
ES	Disease specific	No	No	Yes	No	No	No
ES	Disease specific	Yes	Yes	Yes	Yes	Yes	Yes
ES	Disease specific	No	No	No	No	Yes	No
CH	Disease specific	No	No	No	No	Yes	No
UK	Disease specific	Yes	Yes	Yes	No	Yes	No

Representation of the answers across countries and type of PO regarding the different screening techniques

ISSN: 1750-1172