Background
Method
Results and discussion
Studies included
Disease | Study type Author | Sample size | Age years mean (SD) | Outcome measures | Gait speed m/s mean (SD) | 6MWD m mean (SD) | 10 m walk/run s mean (SD) | Other assessments |
---|---|---|---|---|---|---|---|---|
CMT | Cross-sectional, observational Estilow et al. 2019 [13] | CMT n = 520 | 10.9 (4.4) | Balance (BOT-2) | ↓ balance Mean (SD) z-score − 3.25 (2.9) | |||
Cross-sectional, case-controlled observational Kennedy et al. 2019 [14] | CMT n = 50 TD n = 50 | CMT 12.5 (3.9) TD 12.5 (3.9) | 6MWT Balance (BOT-2)Walk-12 | ↓ 6MWD CMT 507.7 (137.3) TD 643.3 (75.6); p < 0.001 Norm to height CMT 341.9 (95.7) TD 429.4 (56.0); p < 0.001 | ↓ balance (BOT-2 /37) median (IQR) CMT 19 (9) TD 32 (3) p < 0.001 Walk-12 mean score 24.7% (SD 19) 95% CI [19.3, 30.2] n = 49 | |||
Longitudinal observational Baptista et al. 2019 [15] | CMT n = 40 TD n = 49 | CMT 11.45 (3.50) TD 10.62 (3.10) | 10 m walk test (baseline) | Slower 10 m walk Median (25th; 75th) CMT 7.90 (6.67;8.92) TD 7.25 (5.60; 8.56); p ≤ 0.05 | ||||
Cross-sectional, case-controlled observational Kennedy et al. 2018 [11] b1 | CMT n = 30 TD n = 30 | CMT 11.5 (3.7) TD 11.5 (3.7) | Gait speed 6MWT 10 m walk/run (n = 26) Balance (BOT-2) | Slower speed CMT 1.19 (0.16) TD 1.32 (0.14); p < 0.001 | ↓ 6MWD CMT 557 (73) TD 615 (71); p < 0.001 | Slower 10 m walk/run CMT 3.8 (1.0) TD 2.9 (0.3); p < 0.001 | ↓ balance (BOT-2 /37) Median (IQR) CMT 25.5 (4–34) TD 32 (26–35) p < 0.001 | |
Longitudinal cohort Kennedy et al. 2017 [16] b1 | CMT n = 27 | Baseline 11.1 (3.7) 12 months 12.2 (3.7) | Gait speed non−/norm 6MWT non−/norm Balance (BOT-2) Functional mobility scale (FMS) | Slower norm speed over 12 months Baseline 1.18 (0.16) 12 months 1.15 (0.14); p = 0.22 Baseline 0.43 (0.07) 12 months 0.41 (0.05); p = 0.04 | ↓ norm 6MWD over 12 months Baseline 556 (73.7) 12 months 555 (80.2); p = 0.91 Baseline 720 (117) 12 months 690 (121); p = 0.006 | No change in balance over 12 months (BOT-2 /37) Baseline 22.6 (9.4) 12 months 23.3 (8.7) p = 0.76 FMS 78% reported reduced ambulatory function | ||
Cross-sectional, observational cohort Cornett et al. (2016) [17] | CMT n = 520 | 10.9 (4.4) | 6MWT | ↓ 6MWD in CMT genotypes 6MWD z-scores reduced in CMT2A, CMT1B, CMT4C compared with CMT1A and CMTX1; p < 0.05 6MWD z-scores reduced in CMT2A and CMT4C compared with CMT1B; p < 0.05 | ||||
Systematic review Kennedy et al. (2016) [18] | 7 eligible studies | Mean 13 Range 2–52 | Gait speed | Slower speed Range 0.50–1.25 | ||||
Cross-sectional, observational Ounpuu et al. (2013) [19] | CMT n = 33 TD database | CMT 11.9 (3.6) TD 12.0 (3.0) | Gait speed | Slower speed dependent on gait dysfunction CMT toe walker 1.17 [0.21] CMT “typical” 1.11 [0.16]a CMT foot drop 1.03 [0.21]a TD control 1.27 [0.11]; p < 0.001 a compared with TD | ||||
Longitudinal Ferrarin et al. (2013) [20] b2 | CMT n = 16 | 13.2 (2.9) | Gait speed | Non-significant changes in speed with large inter-subject variability | ||||
Cross-sectional, case-controlled observational Ferrarin et al. (2012) [21] b2 | CMT n = 21 TD n = 18 | CMT 11.9 (2.8) yo TD 11.0 (3.3) yo | Gait speed | Slower norm speed CMT1A foot drop and push-off deficit 69 [9] TD 77 [7]; p < 0.05 Norm to height | ||||
Cross-sectional observational Pagliano et al. (2011) [22] | n = 21 | 11.9 (2.8) range 6–17 | Walk-12 | Walk-12 Mean 12.4% (SD 9.5) Range 0–33 | ||||
RCT Rose et al. (2010) [23] a | CMT treatment group n = 15 CMT placebo group n = 15 | CMT treatment 10 [4] yo CMT placebo 11 [3] yo | Gait speed | CMT treatment group 0.50 [0.10] CMT placebo group 0.60 [0.50] | ||||
RCT Burns et al. (2009a) [24] b3 | n = 81 [n = 53 for gait data; n = 65 for 6MWT data] | 8.3 (3.5) | Gait speed 6MWT | Baseline CMT treatment group 1.19 (0.16) CMT placebo group 1.24 (0.19) | Baseline CMT treatment group 519 (86) CMT placebo group 521 (98) | |||
Cross-sectional, observational Burns et al. (2009b) [25] b3 | n = 81 [n = 53 for gait data; n = 65 for 6MWT data] | 8.3 (3.5) | Gait speed 6MWT | CMT 2–6 yo 1.13 (0.25) CMT 7–11 yo 1.25 (0.12) CMT 12–16 yo 1.23 (0.14) | CMT 2–6 yo 494.3 (70.6) 385–640 CMT 7–11 yo 526.8 (83.1) 250–640 CMT 12–16 yo 518.7 (150.2) 110–710 | |||
Cross-sectional, observational Newman et al. (2007) [26] a | n = 16 TD database n = 40 | CMT 20.1 (13) TD 18.4 (8.5) | Gait speed | Slower speed CMT 1.12 (0.17) TD controls 1.31 (0.13); p < 0.001 | ||||
DMD | Longitudinal Fowler et al. (2018) [27] | n = 42 | 7.9 (2.9) Range 4.1–16.1 | 10 m walk/run test StepWatch Activity monitoring | Baseline speed 1.71 (0.68) m/s as measured by 10 m walk/run | Baseline 5.85 s derived from reported gait speed | Significant ↓ average strides per day with ↑ age; per age group average strides per day ↑ for 4-7yo, plateau for 8-10yo and ↓ >10yo | |
Systematic review of gait Goudriaan et al. (2018) [28] | 9 eligible studies | Gait speed calculated from 6 studies | Slower speed compared to TD Standardised mean difference (effect size) ranging from 1.26 to 3.20 | |||||
RCT Victor et al. (2017) [29] | n = 331 | 9.6 (1.92) | 6MWT 10 m walk/run | Baseline 329.6 (55.47) | Baseline 6.8 (1.97) | |||
Cross-sectional observational case controlled Alfano et al. (2017) [30] | DMD n = 72 TD n = 599 | DMD range 4–12 TD range 4–14 | 100 m timed test | Slower timed 100 m across all ages compared to TD; p < 0.01 DMD times improve up to 6 years and then decline from 7 years | ||||
Cross-sectional, observational case controlled Ropars et al. (2016) [31] | DMD n = 16 TD n = 15 | DMD 8.67 (2.04) TD 9.39 (2.21) | Gait speed | Slower speed compared to TD DMD 0.78 (0.18) TD 1.21 (0.13); p < 0.001 | ||||
Cross-sectional observational case-controlled Davidson et al. (2015) [32] | DMD n = 16 TD n = 13 | DMD 9.0 (2.1) TD 9.0 (2.4) | 6MWT StepWatch Activity monitoring | ↓ 6MWD compared to TD DMD 387 (86) TD 598 (63); p < 0.005 | ↓ steps and high activity time and ↑ inactive time compared to TD Steps DMD 5138 (2500) TD 7239 (2621); p = 0.044 High activity time DMD 25 (17) TD 53 (34) min p = 0.018 Inactive time DMD 1103 (134) min TD 1016 [33] min; p = 0.036 | |||
Longitudinal observational Pane et al. (2014) [34] b4 | n = 96 | Baseline 8.3 (2.3) | 6MWT | ↓ 6MWD 3 years − 15.8 (77.3) at 12 months, − 58.9 (125.7) at 24 months and − 104.22 (146.2) at 36 months | ||||
Longitudinal observational Mazzone et al. (2013) [35] b4 | n = 113 | 8.2 4.1–17.0 | 6MWT | ↓ 6MWD 2 years − 22.7 (SD 81.0) 1st year − 64.7 (SD 123.1) 2nd year | ||||
Longitudinal observational Henricson et al. (2013a) [36] | n = 340 | Baseline range 2–28 | 10 m walk/run | Slower 10 m walk/run with ↑ age No participant aged > 18 years able to walk | ||||
Longitudinal observational, case-controlled Henricson et al. (2013b) [37] | DMD n = 24 TD n = 36 1 year DMD n = 13 TD n = 18 | DMD 7.9 (2.3) TD 8.7 (2.6) | 6MWT 10 m walk/run | Baseline ↓ 6MWD DMD 369.5 (79.3) TD 613.3 (73.6) p < 0.001 MCID 26.4 m 1 year change DMD > MCID DMD − 53.67 (SE 25.96) p = 0.027 TD 16.5 (SE 11.46) | Baseline ↓time DMD 1.68 (0.56) TD 3.32 (0.36) p < 0.001 MCID 0.19 s 1 year change DMD > MCID DMD − 0.25 (SE 0.68) p = 0.007 TD 0.33 (SE 0.07) p < 0.001 | |||
Observational study McDonald et al. (2013a) [38] | n = 174 | 8.5 (2.6) | 6MWT 10 m walk/run | 358 (95) MCID 28.5–31.7 m | 7.4 (4.3) MCID 2.3–1.4 s | |||
Longitudinal observational study McDonald et al. (2013b) [39] | n = 57 | 8.3 (2.33) | 6MWT 10 m walk/run | ↓ 6MWD 48 weeks Baseline 361.1 (87.5) Week 48,317.4 (152.3) | Slower 10 m walk/run with ↑ age Baseline < 7yo 4.8 (0.86) > 7yo 7.1 (2.80) | |||
Longitudinal observational study Bello et al. (2012) [40] | n = 80 2 genotypes Group 1 = 57 Group 2 = 23 | 8.3 (2.7) | 6MWT | ↓ 6MWD 12 months, associated with age (r = − 0.38 p = 0.013), baseline 6MWD (r = 0.73, p < 0.001) and genotype (p = 0.029) Baseline Gp 1368 (86) Gp 2387 (67) 12 months Gp 1360 (98) Gp 2343 (124) | ||||
Cross-sectional, observational case controlled Doglio et al. (2011) [41] | DMD n = 15 TD n = 9 | DMD 6.1 (0.7) TD 7.5 (1.2) | Gait speed 10 m walk | Speed in younger boys with DMD does not differ to TD DMD 1.06 (0.17) TD 1.07 (0.18) NS | Slower 10 m walk DMD 4.4 (3.2) TD 3.4 (0.6) p < 0.05 | |||
Longitudinal observational study Mazzone et al. (2011) [42] b4 | n = 106 (n = 100 10 m walk/run) | Baseline 8.3 (2.3) | 10 m walk/run 6MWT | ↓ 6MWD 12 months, > in older boys ≤ 7 yo − 7.8 (63.9) > 7 yo − 42.3 (73.9) All − 25.8 (74.3); p = 0.01 (≤7yo vs > 7yo) | Slower 10 m walk/run in older boys ≤ 7 yo 0.3 (3.1) > 7 yo 1.3 (3.5) All 1.0 (3.4) p = 0.11 ≤ 7yo vs >7yo | |||
Cross-sectional observational study Mazzone et al. (2010) [43] | n = 112 | 8.18 (2.3) | 10 m walk/run 6MWT | Range 127–560.6 | Range 3–15 | |||
Cross-sectional observational case controlled McDonald et al. (2010) [44] | DMD n = 21 TD n = 34 | Median [range] DMD 8 [5–12] TD 9 [4–12] | 6MWT | ↓ 6MWD compared to TD DMD 366 (83) TD 621 (68); p < 0.001 | ||||
Cross-sectional observational case controlled Gaudreault et al. (2010) [8] | DMD n = 11 TD n = 14 | DMD 9.2 (2.6) TD 9.7 (1.9) | Gait speed | Slower speed DMD 0.62 (0.12) TD 1.02 (0.13) p < 0.001 | ||||
Cross-sectional, observational case controlled D’Angelo et al. (2009) [45] | DMD n = 21 TD n = 10 | DMD 7.0 (2.4) TD 7.4 (1.2) | Gait speed | Trend to slower norm speed DMD 0.81 (0.14) TD 0.90 (0.13) norm to height; NS | ||||
RCT Skura et al. (2008) [46] | n = 15 | Baseline 8.4 (1.46) | 30 ft timed walk/run test | Baseline 30 ft timed run 5.6 (1.3) | ||||
RCT Beenakker et al. (2005) [47] | n = 16 | Baseline 6.25 (0.93) Range 5–8 | 9 m run | Baseline speed 1.78 m/s = 5.06 s over 9 m | ||||
SMA | Pilot study Bartels et al. (2019) [48] | n = 4 | 26.2; range 10–37 | Endurance shuttle walk test (ESWT) | ESWT feasible measure of fatigability during walking in SMA3 | |||
Longitudinal, observational Montes et al. (2018) [10] | n = 73 | 13.5 (12.4) range 2.6–49.1 | 6MWT | Baseline SMA3a 257.1 (107.3) SMA3b 390.2 (144.0) Mean rate of change − 7.8 m/year; p = 0.009 Age affects rate of change < 6 yrs.: 9.8 m/ year; 6–10 yrs.: − 7.9 m/year; 11–19 yrs.: − 20.8 m/year; > 20 yres: − 9.7 m/year; p = 0.005 | ||||
Cross-sectional, observational Montes et al. (2014) [49] | n = 10 | 31.2; range, 9–49 | 6MWT | 273.4 (45.7); range, 53–492 | ||||
Dunaway et al. (2014) [50] | n = 15 | 28.7; range 10–49 | 10 m walk/run 6MWT Timed up and go (TUG) | 362.13 (29.22) | 7.44 (0.84) | TUG 12.97 (2.49) s; Moderate to good correlation between TUG and 10 m walk/run (r = 0.691; p = 0.009) and 6MWT (r = − 0.514; p < 0.05) | ||
Longitudinal observational study Mazzone et al. (2013) [51]a | n = 38 | 14.07 (12.43) 3.4–49.3 | 6MWT | No change in 6MWD 12 months Baseline 294.91 (127) 12 months 293.4 (141) | ||||
Cross-sectional, case controlled Montes et al. (2011) [9] | SMA3 n = 9 TD n = 9 | 22 4–49 years | 6MWT | ↓ 6MWD SMA3 343 m (range 267–449) TD 601 m (range 490–733) | ||||
Cross-sectional observational Montes et al. (2010) [52] | n = 18 | 15.3(13.3) | 6MWT 10 m walk/run | 288.9 (161.9) Strong correlation between 6MWT and 10 m walk/run (r = − 0.87; p < 0.0001) | Median (25th, 75th %) 8.4 (5.4,10.7) | |||
CMD | Cross-sectional observational Hayes et al. (2018) [53] | n = 25 | 7.76 (3.02) 3.25–13.22 | 10 m self-selected walk speed 6MWT StepWatch activity monitoring | 0.97 (0.26) 0.52–1.36 | 325.23 (109.85) 150–604 | ↓ physical activity Time inactive, % 80.85 (9.15) Low steps, % 33.19 (13.11) Medium steps, % 51.15 (9.80) High steps, % 16.01 (10.27) | |
Cross-sectional observational case-controlled Johnson et al. (2016) [54] | CMD n = 41 (6MWT n = 33) TD n = 29 | CMD 6.8 (3.3) TD 9.1 (3.1) | 6MWT | ↓ 6MWD CMD 258.3 m (SD 176) TD 568.3 m (SD 73.2); p < 0.001 | ||||
FSHD | Observational test-retest reliability study Eichinger et al. (2017) [55]a | n = 86 | 49.1 (15.2) 18–84 | 6MWT | 404.3 (123.9); Reliability ICC = 0.99 (n = 25) Minimal detectable change (MDC95) 34.3 | |||
Late onset Pompe | Observational cross-sectional McIntosh et al. (2015) [56]a | n = 22 Gender age-matched reference data | 48.6 (range 13–72) | Gait speed 6MWT 10 m fast walk test | 1.02 (0.30) | Variable performance ranging from 39.4 to 110% predicted | 10 m fast walk 1.41 (0.42) m/s = 7.09 s | |
Collagen VI | Longitudinal observational Meilleur et al. (2015) [57]a | n = 32 (n = 11 for 10 m walk/run and 6MWT) | Range 4.8–21.2 | 6MWT 10 m walk/run | 338.27 (126.65) 144–600 | 10 m walk 8.6 (3.5) 4.0–15.8 | ||
NMD (mixed) | Cross-sectional observational Witherspoon et al. (2019) [58] c | n = 77 | 10.1 ± 2.93 | 6MWT 2MWT | 442.1 (121.6) | 2MWD = 149.8 (40.3) m Strong correlation 2MWD and 6MWD r = 0.90, p < 0.01 | ||
Cross-sectional observational Kaya et al. (2015) [59] | n = 40 DMD = 20 PN d = 20 | DMD 9.05 (3.1) PN 12.95 (3.3) | 6MWT TUG | DMD 349.70 (77.18) PN 358.85 (75.07) NS | TUG DMD 7.79 (1.54) s PN 10.13 (2.63) s p < 0.01 | |||
Cross-sectional observational Montes et al. (2013) [60] a e | n = 114 | 21.3 (range 4–64) | 6MWT (% predicted of normative reference data) | Mean 61.9% DMD/BMD 65.1% SMA 52.0% myasthenia gravis 66.3% GLUT1 deficiency/mitochondrial disorders 63.9% | ||||
Cross-sectional observational Holtebekk (2013) [61] f | n = 17 | Median (IQR) 14.2 (3.6) | 6MWT Activity monitoring SenseWear Armband | Median (IQR) 485 (131) | Activity monitor Moderate physical activity Median (IQR) 2.4 (1.9) hours/weekday 1.1 (3.3) hours/weekend day |