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Table 6 When to screen answers from POs by the pathologies they represented

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

When

DMD

SMA

NMD

OTHER

TOTAL

Pre-conception

3 (50%)

0

2 (17%)

1 (20%)

6

Early pregnancy

2 (33%)

0

2 (17%)

3 (60%)

7

At birth

1 (17%)

5 (100%)

5 (42%)

1 (20%)

12

It depends

0

0

3 (25%)

0

3

  1. “DMD” stands for DMD/BMD patients’ organisations (n = 6), “SMA” for SMA POs (n = 5), “NMD” for all neuromuscular diseases POs (n = 12), “Other” for other neuromuscular diseases specific POs (n = 5)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172