Table 4 Frequency of impacts in LOPD and associated disturbance rating
Impact concepts descriptors for LOPD | Total mentions (N = 13) | Impact disturbance, mean (SD) (0 = not disturbing at all; 10 = extremely disturbing) |
|---|---|---|
Muscle and mobility | ||
 Difficulty rising from an armchair *Difficulty rising from a sitting position | 10 (76.9%) | 6.8 (2.6) |
 Difficulty with stairs (primarily going up) *Difficulty climbing stairs | 9 (69.2%) | 7.0 (3.1) |
 Change in the way you walk (“Pompe waddle”) | 8 (61.5%) | 5.5 (3.4) |
 Loss of balance | 8 (61.5%) | 5.9 (2.6) |
 Difficulty getting upright after bending | 8 (61.5%) | 5.8 (3.0) |
 Difficulty rising from a squatting position | 8 (61.5%) | 6.5 (4.1) |
 Difficulty playing sports | 7 (53.8%) | 7.3 (2.7) |
 Cannot walk without assistance *Can walk with assistance (from another person or a device, like a cane or walker) | 6 (46.2%) | 7.8 (1.7) |
 Reduced ability to move independently | 5 (38.5%) | 6.4 (2.9) |
 Cannot walk at all | 4 (30.8%) | 8.5 (1.7) |
 Can walk but slower and shorter distances than before | 3 (23.1%) | 6.7 (3.4) |
 Falling | 2 (15.4%) | 9.5 (0.5) |
 Difficulty getting up from a fall | 2 (15.4%) | 10.0 (0.0) |
 Cannot lift arms all the way up | 1 (7.7%) | 7.0 (0.0) |
 Difficulty walking in the dark | 1 (7.7%) | 8.0 (0.0) |
 Need to use standing frame | 1 (7.7%) | – |
Eating | ||
 Unwanted weight gain/difficult losing weight *Unwanted weight gain *Difficulty losing weight | 10 (76.9%) | 5.8 (2.4) |
 Difficulty chewing, swallowing, etc | 9 (69.2%) | 3.7 (2.1)†|
 Cannot stay vegetarian | 1 (7.7%) | 4.0 (0.0) |
Activities of daily living | ||
 Reduced ability to perform household tasks | 12 (92.3%) | 5.4 (2.6) |
 Reduced ability to participate in leisure activities I used to be able to | 11 (84.6%) | 6.6 (2.3) |
 Reduced ability to care for oneself (showering, dressing, etc.) | 5 (38.5%) | 8.3 (1.2) |
 Cannot participate with family in their leisure activities | 1 (7.7%) | 10.0 (0.0) |
 Reduced/change in ability to write music | 1 (7.7%) | 7.0 (0.0) |
 Use “urine director” to go to the bathroom | 1 (7.7%) | 2.0 (0.0) |
 Need to be very regulated and methodical about daily activities/more planning required | 1 (7.7%) | 2.0 (0.0) |
 Reduced ability to participate in social activities *Reduced ability to participate in social/family activities | 11 (84.6%) | 5.4 (3.4) |
 Change in body image | 7 (53.8%) | 3.9 (1.9) |
 Depression | 7 (53.8%) | 3.6 (1.5) |
 Anxiety | 6 (46.2%) | 7.0 (2.2) |
 Feels like a burden to family/others | 6 (46.2%) | 4.5 (3.5) |
 Difficulty coping | 2 (15.4%) | 5.5 (2.5) |
 Reduced ability to effectively communicate | 1 (7.7%) | 4.0 (0.0) |
 Mom felt guilty because of genetic pre-disposition | 1 (7.7%) | 2.0 (0.0) |
 Change in what she can do as a wife and mother to help take care of her family | 1 (7.7%) | 2.0 (0.0) |
 Getting used to accepting the disease | 1 (7.7%) | 8.0 (0.0) |
 Worry about my future | 1 (7.7%) | 3.0 (0.0) |
Other | ||
 Financial difficulties | 8 (61.5%) | 6.8 (2.9) |
 Reduced ability to work/study | 9 (69.2%) | 7.0 (3.4) |
 Difficulty traveling (by car, bus, plane) | 9 (69.2%) | 5.9 (3.2) |
 Sexual issues (e.g., need to use different positions) | 7 (53.8%) | 5.7 (3.7) |
 Sleep problems (e.g., need to get up frequently) | 6 (46.2%) | 4.2 (2.5) |
 Difficulty being away from home | 1 (7.7%) | 8.0 (0.0) |
 Question whether able to take care of young children | 1 (7.7%) | 9.0 (0.0) |
 Uncertainty whether getting pregnant will enhance disease progression | 1 (7.7%) | 6.0 (0.0) |
 Not as mentally sharp | 1 (7.7%) | 4.0 (0.0) |
 Challenge of finding good doctors who understand disease | 1 (7.7%) | 9.0 (0.0) |
 Osteoporosis | 1 (7.7%) | 9.0 (0.0) |