From: Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
ID | Gender | Current age (y) | Current disease stage | Age at symptom onset (y) | Symptoms at onset | Duration of ERT (y) | Ventilation (age at startup in y) | Brain imaging | Year of genetic diagnosis (age in years) | GAA mutation 1 | GAA mutation 2 |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | D | D (68y) | 42 | LW | 2 | NIV (54y); invasive (68y) | ND | 2013 (65y) | c.-32-13 T > G | c.2219_2220del |
2 | F | 66 | A | 58 | R | 4 | NIV (58y) | Normal (CT) | 2014 (60y) | c.-32-13 T > G | c.2331 + 2 T > A |
3 | F | 23 | A | 14 | LW | 8 | – | ND | 2010 (14y) | c.-32-13 T > G | c.1564C > G |
4 | M | 56 | A | 15 | LW, F | 13 | NIV (39y) | ND | 2007 (44y) | c.-32-13 T > G | c.258dupC |
5 | M | 55 | A | 26 | LW, F | 2 | NIV (53y) | ND | 2016 (52y) | c.-32-13 T > G | c.2261dupC |
6 | F | 65 | A | 13 | LW | 7 | – | ND | 2012 (58y) | c.-32-13 T > G | c.258dupC |
7 | M | 44 | A | 14 | LW, F | 4 | NIV (32y) | ND | 2007 (32y) | c.-32-13 T > G | del exon 18 |
8 | M | D | D (age?) | 10 | R | 3 | invasive (42y) | ND | 2007 (41y) | c.-32-13 T > G | c.956del7 |
9 | F | 75 | W | 49 | LW | 13 | – | Atrophy, mild microvascular white matter lesions (MRI) | 2005 (61y) | c.-32-13 T > G | c.525delT |
10 | M | D | D (age?) | 68 | R | 8 | NIV (75y) | ND | NA | c.-32-13 T > G | – |
11 | M | 45 | A | 11 | LW | 13 | NIV (37y) | Normal (MRI) | 2007 (33y) | c.-32-13 T > G | c.1548G > A |
12 | M | 27 | A | 7 | LW | 14 | – | ND | 2002 (20y) | c.-32-13 T > G | c.2331 + 2 T > A |
13a | F | 45 | A | 36 | LW | 2 | – | ND | NA | c.-32-13 T > G | c.1115A > T |
14 a | M | D | D (62y) | NA | R | 2 | NIV (58y) | ND | 2005 (60y) | c.-32-13 T > G | – |
15a | M | 55 | A | 30 | R | 13 | NIV(36y) | ND | 2004 (40y) | c.-32-13 T > G | del exon 18 |
16a | M | 59 | A | 52 | NA | 11 | – | Normal (MRI) | 2004 (44y) | c.-32-13 T > G | del exon 18 |
17 | F | 64 | A | 51 | R, LW | 9 | – | Normal (MRI) | 2008 (53y) | c.-32-13 T > G | c.258dupC |
18 | F | 27 | A | 11 | NA | 12 | – | Normal (MRI) | 2006 (14y) | c.-32-13 T > G | c.258dupC |
19 | F | 48 | A | 35 | R, LW, AW | 10 | – | Normal (MRI) | 2008 (37y) | c.-32-13 T > G | del exon 18 |
20 | F | 50 | A | 31 | R, LW, AW | 9 | – | Moderate ventriculomegaly (MRI) | 2009 (40y) | c.-32-13 T > G | c.692 + 1G > T |
21b | M | 50 | A | 20 | R, LW, AW | 10 | – | Normal (MRI) | 2008 (39y) | c.-32-13 T > G | c.1610_1611delA |
22b | M | 47 | A | 37 | R, LW, AW | 9 | – | Normal (MRI) | 2008 (36y) | c.-32-13 T > G | c.1610_1611delA |
23 | M | 34 | A | 15 | NA | 7 | – | Normal (MRI) | 2007 (22y) | c.-32-13 T > G | c.2608C > T |
24 | M | 15 | A | 7 mo | NA | 12 | – | Aspecific T2 hyperintensity in right thalamus (MRI) | 2007 (3y) | c.-32-13 T > G | del exon 18 |
25 | F | 41 | A | 17 | LW, R | 8 | – | Normal (MRI) | 2007 (29y) | c.-32-13 T > G | c.1655 T > C |
26 | M | 10 | A | 2.5 | R, LW | 6 | – | Normal (MRI) | 2013 (4y) | C.2608C > T | c.1839G > C |
27 | F | 59 | A | 43 | R, LW, AW | 5 | – | Normal (MRI) | 2013 (53y) | c.-32-13 T > G | c.2608C > T |
28 | F | 35 | A | 28 | R, LW, AW | 3 | – | Normal (MRI) | 2015 (31y) | c.-32-13 T > G | c.1121G > A |
29 | F | 23 | A | 9 mo | LW | 14 | – | Normal (MRI) | 2000 (4y) | c.-32-13 T > G | c.923A > C |
30 | M | 63 | A | 39 | R | 13 | NIV (40 y) | Vertebrobasilar dolichoextasia, hypointensities in basal ganglia (SWI) (MRI) | 2007 (51y) | c.-32-13 T > G | c.258dupC |
31 | F | 50 | A | 35 | LW | 13 | – | Normal (MRI) | 2007 (38y) | c.-32-13 T > G | c.1548G > A |
32 | F | 73 | A | 28 | LW | 13 | – | ND | 2007 (61y) | c.-32-13 T > G | c.1710C > G and c.1923G > A |
33 | F | 63 | A | 44 | LW | 11 | – | Normal (CT) | 2008 (52y) | c.-32-13 T > G | del exon 18 |
34c | M | 68 | A | 45 | LW, ptosis left side | 12 | NIV (60 y) | Aneurysm right vertebral artery (MRI) | 2007 (66y) | c.-32-13 T > G | c.1681_1699dup19 |
35c a | F | D | D (78y) | 44 | LW, AW | – | NIV (72 y) | Vascular leukoencephalopathy (CT) | 2007 (72y) | c.-32-13 T > G | c.1681_1699dup19 |
36 | M | 47 | A | 25 | LW | 11 | – | Multiple small aneurysms (right ACI and left ACA) (MRI) | 2008 (36y) | c.-32-13 T > G | c.1075G > A |
37d | M | 45 | A | 17 | LW | 10 | – | Normal (MRI) | 2009 (35y) | c.-32-13 T > G | c.482_483del |
38 | F | 41 | A | 27 | HyperCK, F | 9 | – | Normal (MRI) | 2009 (31y) | c.-32-13 T > G | c.525delT |
39d | F | 49 | A | 42 | LW | 7 | – | Normal (MRI) | 2011 (41y) | c.-32-13 T > G | c.482_483delCC |
40 | F | 35 | A | 18 | LW | 3 | – | Normal (MRI) | 2016 (32y) | c.-32-13 T > G | c.2261dupC |
41 | M | 55 | A | 42 | LW | 2 | NIV (53 y) | Normal (MRI) | 2017 (53y) | c.-32-13 T > G | c.2608C > T |
42 | M | 59 | A | 51 | LW | 5 | – | ND | 2014 (53y) | c.-32-13 T > G | c.258dup |
43 | F | 63 | A | 25 | LW | 11 | – | ND | 2011 (54y) | c.-32-13 T > G | c.186dup11 |
44 | F | 62 | A | 44 | LW | 7 | – | ND | 2007 (51y) | c.-32-13 T > G | c.1115A > T |
45 | F | D | D (65y) | 44 | LW, R | 7 | NIV (55y) | Normal (CT) | 2008 (57y) | c.-32-13 T > G | c.701C > G |
46 | M | 58 | A | 27 | LW | 8 | NIV (54y) | ND | 2012 (51y) | c.-32-13 T > G | c.258dup |
47 | M | 53 | A | 29 | LW | 11 | NIV (41y) | Normal (CT) | 2008 (42y) | c.-32-13 T > G | c.525delT |
48 | M | 46 | A | 9 | LW | 14 | NIV (38y) | Normal (MRI) | 2007 (34y) | c.1-45 T > G | c.2608C > T |
49 | F | 45 | A | 20 | R | 2 | – | Vertebrobasilar dolichoextasia (MRI) | 2017 (43y) | c.-32-13 T > G | c.525delT |
50 | M | 40 | A | 36 | LW | 3 | NIV (37y) | ND | 2017 (38y) | c.-32-13 T > G | c.1115A > T |
51 a | F | 21 | A | 18 | LW, F | 4 mo | – | ND | 2019 (21y) | c.-32-13 T > G | c.1548G > A |
52 | F | D | D (age?) | NA | NA | NA (until D) | NIV (49y) | ND | NA | NA | NA |