Achondroplasia is a clinical condition defined by shorter stature and disproportionate limb length. Force production in able-bodied individuals (controls) is proportional to muscle size, but given the disproportionate nature of achondroplasia, normalizing to anatomical cross-sectional area (ACSA) is inappropriate. The aim of this study was to assess specific force of the vastus lateralis (VL) in 10 adults with achondroplasia (22 ± 3 yr) and 18 sex-matched controls (22 ± 2 yr). Isometric torque (iMVCτ) of the dominant knee extensors (KE) and in vivo measures of VL muscle architecture, volume, activation, and patella tendon moment arm were used to calculate VL physiological CSA (PCSA), fascicle force, and specific force in both groups. Achondroplasic muscle volume was 53% smaller than controls (284 ± 36 vs. 604 ± 102 cm, P < 0.001). KE iMVCτ was 63% lower in achondroplasia compared with controls (95 ± 24 vs. 256 ± 47 N⋅m, P < 0.001). Activation and moment arm length were similar between groups ( P > 0.05), but coactivation of bicep femoris of achondroplasic subjects was 70% more than controls (43 ± 20 vs. 13 ± 5%, P < 0.001). Achondroplasic subjects had 58% less PCSA (43 ± 10 vs. 74.7 ± 14 cm, P < 0.001), 29% lower fascicle force (702 ± 235 vs. 1704 ± 303 N, P < 0.001), and 29% lower specific force than control subjects (17 ± 6 vs. 24 ± 6 N⋅cm, P = 0.012). The smaller VL specific force in achondroplasia may be attributed to infiltration of fat and connective tissue, rather than to any difference in myofilament function. NEW & NOTEWORTHY The novel observation of this study was the measurement of normalized force production in a group of individuals with disproportionate limb length-to-torso ratios.
Background: Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals with Achondroplasia differing to controls, but no global quantification of gait has been made in adults with Achondroplasia. Aim: The aim of this study was to quantify gait differences between a group of adult males with Achondroplasia and controls during self-selected walking (SSW) using the Gait Profile Score (GPS). Design: Whole body motion analysis of 10 adults with Achondroplasia (22 ± 3 yrs) who had not undergone leg lengthening and 17 adult controls (22 ± 2 yrs) was undertaken using a 14 camera VICON system (100 Hz). For each group, fifteen root mean squared Gait Variable Scores (GVS, units°) were computed from lower limb kinematic data and then summed to calculate GPS (°). Results: The group with Achondroplasia had higher GVSs than controls in 10 of the 15 measures (P < 0.05) with the largest differences found in ankle plantar/dorsiflexion (P < 0.001), knee flexion/extension (P < 0.001), and hip internal/external rotation (P < 0.001). The GPS value of the group with Achondroplasia was 64% higher than controls (11.4°(2.0) v 4.1°(1.8), P < 0.001). Conclusion: Gait is quantitatively different in adults with Achondroplasia compared to controls. The differences in GPS between groups are due to differences in joint kinematics, which are possibly manifested by maintaining toe-clearance during swing. Gait models derived from the anatomy of individuals with Achondroplasia may improve these data.
Background: Achondroplasia is characterised by a shorter appendicular limb to torso ratio, compared to age matched individuals of average stature (controls). Despite the well documented shorter leg length of individuals with compared to controls, there are few complete descriptions of gait kinematics reported for the population. Aim: The aim of this study was to report the spatio-temporal and kinematic characteristics of self-selected walking (SSW) in a group with Achondroplasia (N = 10) and age matched group without Achondroplasia (controls, N = 17). Method: Whole body 3D analysis of both groups was conducted using a 14 camera VICON system. Spatiotemporal and kinematic variables were determined through a Plug-in-Gait model. SSW was obtained from an average of three trials equating to a total of ∼120 m walking. Results: The group with Achondroplasia were 23 % slower (P < 0.001), had a 29 % shorter stride length (P < 0.001) and a 13 % higher stride frequency (P < 0.001) compared to controls. There were no differences in time normalised temporal measures of left toe off (P = 0.365), right heel contact (P = 0.442) or the duration of double support (P = 0.588) between groups. A number of discrete joint kinematic differences existed between groups, resulting in the group with Achondroplasia having more 'flexed' lower limbs than controls throughout the gait cycle. Conclusion: Differences in absolute spatio-temporal variables between groups is likely due to the shorter leg length of the group with Achondroplasia, while their more flexed position of the lower limbs may facilitate toeclearance during the swing phase.
Achondroplasia is a condition characterized by a genetic mutation affecting long bone endplate development. Current data suggests that the bone mineral content (BMC) and bone mineral density (BMD) of achondroplasic populations are below age matched individuals of average stature (controls). Due to the disproportionate limb-to-torso length compared to controls however, the lower BMC and BMD may be nullified when appropriately presented. The aim of this study was to measure whole-body and segmental body composition in adult males with achondroplasia (N = 10, 22 ±3 yrs), present data relative to whole-body and whole-limb values and compare all values to age matched controls (N = 17, 22 ±2 yrs). Dual X-ray absorptiometry (DEXA) was used to measure the in vivo mass of the whole-body and 15 segments, from which BMD, BMC, fat free mass (FFM) and body fat mass were measured. BMC of lumbar vertebrae (L1-4) was also measured and presented as a volumetric BMD (BMDVOL). The achondroplasic group had less BMC, BMD and FFM, and more body fat mass than controls as a whole-body measure. The lower achondroplasic BMC and BMD was somewhat nullified when presented relative to whole-body and whole-limb values respectively. There was no difference in lumbar BMDVOL between groups. Whole-body BMD measures presented the achondroplasic group as ‘osteopenic’. When relative to whole-limb measures however, achondroplasic BMD descriptions were normal. Further work is needed to create a body composition database for achondroplasic population’s, or for clinicians to present achondroplasic body composition values relative to the whole-limb.
The disproportionate body mass and leg length of Achondroplasic individuals may affect their net oxygen consumption (V͘O2) and metabolic cost (C) when walking at running compared to those of average stature (controls). The aim of this study was to measure submaximal V͘O2 and C during a range of set walking speeds (SWS; 0.56 – 1.94 m⋅s-1, increment 0.28 m⋅s-1), set running speeds (SRS; 1.67 – 3.33 m⋅s-1, increment 0.28 m⋅s-1) and a self-selected walking speed (SSW). V͘O2 and C was scaled to total body mass (TBM) and fat free mass (FFM) while gait speed was scaled to leg length using Froude’s number (Fr). Achondroplasic V͘O2TBM and V͘O2FFM were on average 29 and 35% greater during SWS (P < 0.05) and 12 and 18% higher during SRS (P < 0.05) than controls, respectively. Achondroplasic CTBM and CFFM were 29 and 33% greater during SWS (P < 0.05) and 12 and 18% greater during SRS (P < 0.05) than controls, respectively. There was no difference in SSW V͘O2TBM or V͘O2FFM between groups (P > 0.05), but CTBM and CFFM at SSW were 23 and 29% higher (P < 0.05) in the Achondroplasic group compared to controls, respectively. V͘O2TBM and V͘O2FFM correlated with Fr for both groups (r = 0.984 – 0.999, P < 0.05). Leg length accounted for the majority of the higher V͘O2TBM and V͘O2FFM in the Achondroplasic group, but further work is required to explain the higher Achondroplasic CTBM and CFFM at all speeds compared to controls.New and Noteworthy: There is a leftward shift of oxygen consumption scaled to total body mass and fat free mass in Achondroplasic adults when walking and running. This is nullified when talking into account leg length. However, despite these scalars, Achondroplasic individuals have a higher walking and metabolic cost compared to age matched non-Achondroplasic individuals, suggesting biomechanical differences between the groups.
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