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Table 3 Frequency of LOPD symptoms and associated symptom disturbance rating

From: Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective

Symptom concepts descriptors for LOPD Total mentions (N = 13) Symptom disturbance, mean (SD) (0 = not disturbing at all; 10 = extremely disturbing)
Muscle and mobility
 Site-specific pain (not back)
*Pain
9 (69.2%) 5.3 (2.5)
 Muscle weakness in lower body (hips and/or legs) 8 (61.5%) 8.0 (2.1)
 Change in body shape 8 (61.5%) 4.4 (3.1)
  Back pain 7 (53.8%) 6.3 (2.4)
 Muscle weakness in upper body (core and/or arms) 6 (46.2%) 6.4 (2.1)
 Muscle weakness everywhere 6 (46.2%) 7.3 (1.8)
 Muscle aches 5 (38.5%) 6.6 (3.1)
 Stabbing, shooting, sharp pain 1 (7.7%) 1.0 (0.0)
 Moderate to severe scoliosis 1 (7.7%) 5.0 (0.0)
Breathing and respiratory
 Shortness of breath
*Breathing difficulties
7 (53.8%) 4.5 (2.5)
 Trouble breathing while lying down
*Breathing difficulties while lying down
7 (53.8%) 5.4 (3.7)
 Trouble breathing while sleeping 6 (46.2%) 3.8 (2.5)
 Frequent respiratory infections 2 (15.4%) 4.5 (0.5)
 Trachea secretion and drainage 1 (7.7%) 5.0 (0.0)
Other
 Fatigue
*Tiredness/fatigue/need to rest
12 (92.3%) 7.3 (1.5)
 Frequent urination/OAB 2 (15.4%) 6.5 (0.5)
 Acid reflux 1 (7.7%) 2.0 (0.0)
 Loose bowel 1 (7.7%) 8.0 (0.0)
 Some fiber neuropathy 1 (7.7%) 7.0 (0.0)
 Stiffness in back 1 (7.7%) 9.0 (0.0)
 Headaches
*Headaches
*Morning headaches
1 (7.7%) 4.0 (0.0
 Hives related to infusion 1 (7.7%) -
  1. LOPD late-onset Pompe disease, OAB overactive bladder, SD standard deviation
  2. *Denotes wording applied to third round of interviews only (Additional file 1)