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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