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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%)

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  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)