Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease

Abstract

Background: Late Onset Pompe Disease(LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on clinical examination. No study quantitatively assessed upright posture defining specific alterations of LOPD various phenotype. Objective: Identify postural abnormalities in a homogeneous group of LOPD patients using 3D-Stereophotogrammetry(St) and x-Ray(xR). Methods: Seven LOPD siblings were recruited. They were assessed by clinical scales and, in upright posture, using xR and 3D-St with a new marker set protocol. Fourteen healthy individuals, age and sex-matched, were used as controls for St-parameters; normative xR-values were found in literature. Results: LOPD patients showed a significant weakness of trunk and tibialis anterior muscles. Statistical analysis of St-parameters showed a larger ankle, knee, elbow, dorsal, S2-C7, heel-S2-C7, heel-S2-nasion angles and a lower sagittal vertical axis(SVA) than controls. xR-analysis highlighted an absence of scoliosis and a lower occipito-cervical, C2-C7 cervical and Cobb dorsal angles, and a trend to lower lumbar lordosis and SVA compared to normal values. Significant correlation was found in dorsal and lumbar angles calculated using xR-markers placed on spiny apophysis, xR-centre of vertebral bodies, Cobb-method and St-markers. Conclusion: This is the first quantitative study of postural abnormalities in LOPD patients using 3D-St and xR, highlighting sagittal standing alignment changes,difficult to assess to direct exam.Our new St-protocol showed a high reliability compared to xR. Further studies on larger population of LOPD might confirm the usefulness of these instrumental methods for monitoring disease course.

Kinematic Evaluation of the Sagittal Posture during Walking in Healthy Subjects by 3D Motion Analysis Using DB-Total Protocol

“… Average of kinematic curves during the gait cycle for eighteen new sagittal DB-Total [ 14 ] parameters. Graphs δ and ɣ explain the new kinematic DB-Total values: Average, Excursion Range, Absolute Excursion Range, Minimum (Min), Maximum (Max), Standard Deviation (SD), and Absolute Minimum (Min) and Maximum (Max).…”

“…The present study aimed to characterize the sagittal spinal and whole-body posture of healthy subjects during walking. The use of the DB-Total protocol [ 14 ] allowed us to measure additional whole-body kinematic parameters during walking with respect to traditional stereophotogrammetric protocols [ 7 , 8 , 9 , 10 , 11 ], which usually consider the trunk as a single rigid segment, without information on the kinematic changes within the spine about the head and the upper limbs. A few studies evaluated multi-segmental trunk and whole-body angles considering a standing posture [ 12 , 13 , 14 ] or during walking [ 15 , 16 , 17 , 18 , 19 , 20 , 21 ].…”

“…Each subject underwent 3D stereo-photogrammetric examination that was performed using an optoelectronic system composed of eight Smart-D cameras (BTS Bioengineering, Milano, Italy) set at a frequency of 100 Hz and two force platforms (BTS Bioengineering, Milano, Italy). Reflective markers were placed on body landmarks according to the DB-Total marker set [ 14 ]. The latter was proposed to comprehensively investigate spinal and whole-body kinematics and extend the conventional Helen Hayes M.M.…”

“…Traditional stereophotogrammetric models [ 7 , 8 , 9 , 10 , 11 ] were used to assess the kinematics of pelvis, hip, knee, ankle, trunk (considered as a single rigid segment that does not provide information on kinematic changes within the spine) and rarely head and upper limbs. A few studies analyzed the multi-segmental-trunk, head, lower- and upper- limbs kinematics in upright standing [ 12 , 13 , 14 ] by introducing a larger number of skin markers on the body; other ones assessed the trunk in several districts during locomotion or elementary exercises [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. In particular, [ 15 ] described spine kinematics considering lower-thoracic, lumbar and pelvic segments during walking; [ 16 ] characterized spine motion by 5-link-segment-model to upright posture, chair raising-sitting, stepping up and down, and level walking, and [ 17 ] investigated the contribution of upper-body movements to dynamic balance control during different and challenging motor tasks.…”

“…The latter were assessed in young asymptomatic volunteers [ 18 ], in elderly females [ 19 ], in patients with adult spinal deformities (ASD) compared to controls without treatment [ 20 ] and after spinal surgery [ 21 ], showing changes in sagittal alignment and compensation strategies both before and after surgical correction. However, no study considered whole-body kinematic parameters as we performed in our recent study [ 14 ], introducing a new marker set titled DB-Total protocol, that placed additional skin markers on the head, spine and upper limbs with respect to the Helen Hayes marker set [ 11 ] for better evaluating the sagittal spine and whole-body posture of patients with late-onset Pompe disease compared to healthy controls in upright standing. Moreover, DB-Total protocol showed high reliability for the assessment of the sagittal spine thanks to strong correlations between the stereophotogrammetric and radiographic parameters.…”