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

Journal of Neuromuscular Diseases
Paolo De BlasiisSimone Sampaolo

Abstract

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. Identify postural abnormalities in a homogeneous group of LOPD patients using 3D Stereophotogrammetry (St) and x-Ray (xR). 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. 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 lu...Continue Reading

References

May 1, 1990·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·M P KadabaM E Wootten
Jun 21, 2001·Clinical Biomechanics·M G BenedettiS Giannini
Feb 3, 2005·Journal of Spinal Disorders & Techniques·Eric BerthonnaudHubert Labelle
Jan 22, 2008·Gait & Posture·Alberto FerrariAlberto Leardini
Nov 18, 2008·Gait & Posture·Jennifer L McGinleyMeg E Morris
Apr 30, 2010·Journal of Orthopaedic Surgery·Kasim Abul-Kasim, Acke Ohlin
Jun 23, 2010·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Pierre Roussouly, Colin Nnadi
Mar 23, 2011·Clinical Biomechanics·Alberto LeardiniMaria Grazia Benedetti
Sep 21, 2011·Molecular Genetics and Metabolism·Mark RobertsLaura E Case
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Laura E CasePriya S Kishnani
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela SchüllerBenedikt Schoser
Apr 23, 2013·Molecular Genetics and Metabolism·Deniz GüngörAns T van der Ploeg
Oct 11, 2013·Orphanet Journal of Rare Diseases·Simone SampaoloGiuseppe Di Iorio
Aug 3, 2014·Molecular Genetics and Metabolism·Priya S KishnaniJoan Keutzer
Dec 17, 2014·Archives of Physical Medicine and Rehabilitation·Marein M FavejeeAns T van der Ploeg
Oct 28, 2016·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Kazuhiro HasegawaKei Watanabe
Oct 7, 2016·PloS One·Sebastián Figueroa-BonaparteUNKNOWN Spanish Pompe Study Group
Nov 16, 2016·Scientific Reports·Maria Stella ValleMatteo Cioni
Feb 12, 2017·Molecular Genetics and Metabolism·Justin ChanPriya S Kishnani
Oct 23, 2018·Experimental and Therapeutic Medicine·Zheng ZengYang Liu
May 29, 2018·Spine Surgery and Related Research·Laxmikant DagdiaManabu Ito

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