Introduction
Methods
Patients
Methods
Patients’ characteristics
Subjective complaints
Pulmonary function tests
Statistical analysis
Results
Patients’ characteristics
No. | Sex/age/age at onset | Mutation | Smoking history | Pulmon. history | CNS involv. | Limb girdle | Periph. neurop. | Dysarthria/dysphagia | Other |
---|---|---|---|---|---|---|---|---|---|
1 | F/28/21 | Deletion | C | – | – | – | – | −/− | |
2 | F/43/32 | Deletion | – | – | – | – | – | −/− | PHL, HT |
3 | F/29/17 | Deletion | C | P | – | + | – | −/+ | |
4 | F/35/14 | Deletion | – | – | M | – | – | −/− | |
5 | M/32/8 | Deletion | – | – | CA, CI | + | – | −/+ | PHL, RI |
6 | F/52/25 | Deletion | – | – | – | + | – | −/− | |
7 | F/62/34 | Deletion | F | – | CA, CI, E | + | – | −/− | CM |
8 | F/43/15 | Deletion | C | – | – | + | – | +/+ | |
9 | M/54/25 | Deletion | F | – | – | + | – | +/+ | |
10 | M/40/11 | Deletion | C | – | – | – | – | −/− | |
11 | M/45/14 | Deletion | F | – | CA, CI | + | – | +/+ | CB, PHL, RI |
12 | F/54/13 | Deletion | F | – | – | + | – | −/− | |
13 | F/61/17 | Deletion | F | – | – | – | – | −/− | |
14 | M/63/12 | Deletion | – | P | – | + | – | +/+ | |
15 | M/55/48 | m.4267A>G | – | – | – | + | – | −/− | |
16 | M/66/36 | m.12315G>A | – | – | – | – | – | −/− | |
17 | F/54/12 | m.3243A>G | F | A, P | CA, M | + | – | +/− | PHL, RI, DM |
18 | M/57/12 | m.3243A>G | C | A | CI | – | + | −/− | PHL, DM |
19 | M/63/53 | POLG1 | – | – | – | – | + | −/− | |
20 | M/52/39 | POLG1 | – | – | CA, CI | + | SAN | +/− | PHL, RI |
21 | M/43/23 | POLG1 | – | – | CA, CI | + | SAN | +/+ | PHL, RI |
22 | F/51/24 | POLG1 | – | A, P | CA | + | SAN | +/+ | PHL |
23 | M/48/21 | POLG1 | – | – | CA, CI | – | SAN | +/+ | PHL, RI |
Questionnaires
Pulmonary function tests
No. | BMI | PE-Max | PI-Max | IVC | TLC | FEV1 | FEV1/IVC | PEF | FIV1 | TLCO | KCO |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 24.7 | 9.4 (101) | 8.0 (109) | 3.8 (100) | 4.7 (91) | 3.3 (101) | 87 | 9.0 (125) | 3.3 (94) | 8.9 (94) | 2.0 (109) |
2 | 34.7 | 11.6 (118) | 8.3 (104) | 4.7 (121) | 6.2 (108) | 3.7 (115) | 80 | 8.0 (110) | 4.5 (128) | 8.2 (86) | 1.4 (87) |
3 | 16.8 | 4.0 (45) | 5.1 (74) | 2.1 (61) | 4.3 (89) | 2.0 (68) | 95 | 5.2 (76) | 2.0 (60) | 6.9 (77) | 1.8 (94) |
4 | 23.5 | 9.5 (95) | 6.6 (79) | 3.8 (90) | 5.1 (83) | 3.3 (92) | 87 | 8.0 (103) | 3.7 (93) | 7.0 (68) | 1.6 (94) |
5 | 17.9 | 7.7 (52) | 7.2 (67) | 4.0 (92) | 4.9 (84) | 3.1 (87) | 78 | 7.8 (89) | 3.8 (94) | 7.2 (73) | 1.5 (90) |
6 | 34.4 | 4.3 (46) | 5.4 (73) | 2.5 (77) | 2.1 (79) | 85 | 5.6 (85) | ||||
7 | 30.0 | 7.3 (74) | 5.4 (66) | 3.9 (111) | 6.9 (116) | 2.6 (87) | 67 | 8.3 (121) | 3.8 (118) | 7.8 (89) | 1.3 (86) |
8 | 19.0 | 2.8 (30) | 3.7 (50) | 2.9 (84) | 4.5 (86) | 2.6 (90) | 95 | 6.2 (91) | 2.4 (77) | 6.5 (74) | 1.6 (95) |
9 | 27.8 | 2.4 (19) | 1.7 (20) | 4.4 (86) | 3.5 (91) | 81 | 6.8 (74) | ||||
10 | 27.3 | 10.7 (75) | 4.4 (44) | 4.8 (82) | 6.1 (75) | 3.7 (81) | 77 | 10.0 (99) | 4.3 (81) | 10.0 (80) | 1.7 (112) |
11 | 18.9 | 6.9 (51) | 10.2 (109) | 4.8 (100) | 3.8 (103) | 81 | 9.0 (100) | ||||
12 | 21.8 | 5.1 (52) | 5.0 (63) | 3.7 (105) | 5.3 (94) | 2.9 (98) | 77 | 6.8 (100) | 3.6 (113) | 7.3 (74) | 1.5 (97) |
13 | 30.1 | 10.6 (116) | 8.0 (112) | 3.2 (109) | 4.4 (89) | 2.3 (97) | 78 | 7.1 (117) | 2.9 (112) | 5.6 (73) | 1.4 (89) |
14 | 25.9 | 7.2 (60) | 2.7 (35) | 3.7 (79) | 2.7 (76) | 72 | 5.5 (64) | ||||
15 | 25.3 | 12.7 (99) | 8.2 (97) | 5.1 (120) | 6.8 (103) | 4.5 (135) | 87 | 11.9 (142) | 5.0 (130) | 9.5 (101) | 1.5 (104) |
16 | 24.2 | 10.1 (86) | 5.0 (68) | 2.8 (80) | 2.3 (84) | 80 | 7.6 (103) | ||||
17 | 23.0 | 7.7 (80) | 8.1 (105) | 3.8 (109) | 5.3 (95) | 2.3 (80) | 61 | 5.6 (83) | 3.4 (111) | 7.6 (79) | 1.5 (97) |
18 | 16.9 | 8.4 (66) | 8.2 (99) | 3.5 (72) | 2.6 (70) | 75 | 6.2 (70) | ||||
19 | 29.1 | 16.5 (138) | 8.2 (110) | 3.7 (92) | 6.4 (97) | 2.1 (68) | 56 | 5.9 (75) | 3.5 (98) | 9.4 (107) | 1.8 (132) |
20 | 24.4 | 9.0 (69) | 8.0 (91) | 3.6 (81) | 2.8 (81) | 80 | 8.1 (94) | ||||
21 | 18.0 | 12.3 (89) | 6.4 (67) | 5.3 (94) | 7.9 (99) | 4.1 (94) | 78 | 9.7 (99) | 5.1 (98) | 8.6 (71) | 1.3 (83) |
22 | 21.5 | 10.7 (111) | 8.9 (116) | 3.5 (101) | 2.6 (90) | 74 | 5.6 (83) | ||||
23 | 27.2 | 12.7 (95) | 6.6 (73) | 4.4 (82) | 3.6 (87) | 82 | 9.1 (95) | ||||
Mean | 8.68 | 6.49 | 3.82 | 5.63 | 2.97 | 79 | 7.52 | 3.66 | 7.89 | 1.56 | |
SD | 3.49 | 2.13 | 0.80 | 1.11 | 0.70 | 9.2 | 1.73 | 0.88 | 1.27 | 0.20 | |
%pred. | 76.8** | 79.5** | 92.5* | 93.6 | 89.3** | 99.5 | 95.6 | 100.5 | 81.9** | 97.9 |