Table 1 Summary of data in patients with LOPD (n = 35) included in the study
From: Small fiber involvement is independent from clinical pain in late-onset Pompe disease
Gender | |
|---|---|
Female [number (%)] | 19 (54%) |
Male [number (%)] | 16 (46%) |
Age at [years, mean (range)] | |
Skin biopsy | 50.3 (18–74) |
Symptoms | 34.9 (3–72) |
Diagnosis | 42.3 (4–74) |
Start ERT | 43.8 (4–74) |
Duration onset symptoms-time of biopsy | 15.3 (1–44) |
Duration onset ERT—time of biopsy | 6.5 (0–14) |
Genetic mutation (34/35) | |
c.-32-13T > G [n (%)] | 30 (88%) |
c.45T > G [n (%)] | 3 (9%) |
Others | 1 (3%) |
GAA residual level—reduction in % (23/35) [average (range)] | 89% (73–99) |
Risk for PNP [number (%)] | 8 (23%) |
Diabetes mellitus type 2 | 3 |
Frequent alcohol intake | 2 |
Cobalamin or/and ferritin deficiency | 3 |
IENFD (35/35) | |
Reduced [number (%)] | 20 (57%) |
Pain within the last 4 weeks (35/35) | 24 (69%) |
Current pain intensity (NRS 0–10) [mean ± SD (range)] Average pain intensity (NRS 0–10) [mean ± SD (range)] Maximal pain intensity (NRS 0–10) [mean ± SD (range)] | 2.8 ± 2.6 (0–9) 4.1 ± 1.1 (1–7) 6.2 ± 2.2 (2–10) |
Pain attacks without pain between them [number (%)] Persistent pain with slight fluctuations [number (%)] Persistent pain with pain attacks [number (%)] Pain attacks with pain between them [number (%)] | 13 (54%) 8 (33%) 2 (8%) 1 (4%) |
Neuropathic pain likely [number (%)] Neuropathic pain component unclear [number (%)] Neuropathic pain unlikely [number (%)] | 1 (3%) 7 (20%) 16 (46%) |
HADS score (35/35) | |
Relevant anxiety and/or depressive symptoms [number (%)] | 12 (34%) |
Relevant depression symptoms [number (%)] | 8 (23%) |
Relevant anxiety symptoms [number (%)] | 11 (31%) |