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Gait Among Patients with Myotonic Dystrophy Type 1: a Three‑Dimensional Motion Analysis Study

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Gait Among Patients with Myotonic Dystrophy Type 1: a Three‑Dimensional Motion Analysis Study [Downloaded free from http://www.jisprm.org on Tuesday, January 15, 2019, IP: 130.104.190.127] Original Article Gait among Patients with Myotonic Dystrophy Type 1: A Three‑Dimensional Motion Analysis Study Vincent Tiffreau1, Christine Detrembleur2, Peter Van Den Bergh3, Anne Renders3, Virginie Kinet3, André Thevenon1, Etienne Allart4,5, Thierry Lejeune2 1PMR Unit, University Hospital of Lille, Research Unit 4488 Health, Physical Activityand Muscle, University of Lille, F‑59000 Lille Cedex, 2Rehabilitation and Physical Medicine Unit, Avenue Mounier, 53 – UCL 5375, 1200 Brussels, Belgium, 3Neuromuscular Disease Center, Saint‑Luc Hospital, 1200 Brussels, Belgium, 4Neurorehabilitation Unit, Lille University Hospital, F‑59000 Lille, France, 5Inserm U 1171, Degenerative and Vascular Cognitive Disorders, University of Lille, F‑59045 Lille, France Abstract Objective: The objective was to characterize the gait abnormalities in myotonic dystrophy type 1 patients. Material and Methods: Outcomes variables were kinematic and kinetic parameters, timing of muscles, mechanical work and energy cost, and the motor function measure. Results: Despite a high cadence and a low ankle range of motion ratio, ankle extension power, and first extension moment of the knee during the stance, the mechanical work and energy cost were normal. The duration of electromyography activation of the gastrocnemius lateralis (GL) muscle was abnormally long. Conclusion: The hypothesis of a myotonic activity of the GL during the swing phase should be investigated. Keywords: Electromyography, gait analysis, kinematics, kinetics, myotonic dystrophy type 1, treadmill INTRODUCTION Although the myotonia is typically noted in the hand muscles of DM1 sufferers, it is not usually described in leg muscles. Myotonic dystrophy type 1 (DM1, also known as Steinert’s Nevertheless, Logigian et al. showed that waxing–waning disease) is the most prevalent hereditary neuromuscular myotonia occurred in distal leg muscles of patients with DM1.[6] disease (NMD) in Western countries.[1,2] The condition’s muscle-related symptoms include distal and axial muscle Patients with DM1 suffer from gait impairments and have an [7] weakness and myotonia (residual resistance after muscle increased risk of falls. The gait impairment in DM1 has been [8] contraction that is attributed to a decrease in membrane attributed to distal muscle weakness and impaired balance. chloride permeability). Mechanisms such as peripheral neuropathy and central nervous system dysfunction have also been suspected.[9,10] The genetic defect underlying DM1 is an unstable, expanded CTG triplet repeat in the untranslated region of In 1996, Wright et al. provided the first report on gait in DM1 (in five participants).[11] The researchers showed that gait the dystrophia myotonica protein kinase (DMPK) gene on abnormalities in DM1 were related to distal weakness and the chromosome 19.[3] Recent molecular genetic studies have excessive use of hip muscles. described the impact of the CUG repeats in the DMPK transcripts on the biogenesis of several mRNAs, which cause Galli et al. analyzed the gait parameters of ten DM1 patients. the polymorphic symptoms in DM1. It has been shown that In addition to the expected distal muscle weakness, the RNA inclusions in the nuclei of patients with DM1 interfere researchers also observed abnormal muscle activation in the with splicing of the chloride channel 1 gene (CLCN1) mRNA. This leads to the abnormal inclusion of CLCN1’s alternative Address for correspondence: Dr. Vincent Tiffreau, PMR Unit, University Hospital of Lille, Rue du Pr Verhaegue, [4] exons 6B and/or 7A and retention of intron 2. The end result F‑59037 Lille Cedex, France. is abnormally high membrane resistance for CLC-1, which has E‑mail: vincent.tiffreau@chru‑lille.fr been correlated with the electrical hyperexcitability of muscle [5] fibers and therefore myotonia. This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to Access this article online remix, tweak, and build upon the work non-commercially, as long as appropriate credit Quick Response Code: is given and the new creations are licensed under the identical terms. Website: For reprints contact: [email protected] www.jisprm.org How to cite this article: Tiffreau V, Detrembleur C, Van Den Bergh P, DOI: Renders A, Kinet V, Thevenon A, et al. Gait among patients with myotonic 10.4103/ijprm.ijprm_8_18 dystrophy type 1: A three-dimensional motion analysis study. J Int Soc Phys Rehabil Med 2018;1:65-71. © 2019 The Journal of the International Society of Physical and Rehabilitation Medicine | Published by Wolters Kluwer ‑ Medknow 65 [Downloaded free from http://www.jisprm.org on Tuesday, January 15, 2019, IP: 130.104.190.127] Tiffreau, et al.: Gait among patients with DM1 distal leg muscles during gait.[10] Bachasson et al. observed Three‑dimensional instrumented gait analysis that the center of pressure (CoP) velocity was greater in Anthropometric parameters were measured and recorded. The DM1 patients than in healthy controls and correlated with neck participants were instructed to walk barefoot on a motorized flexion and ankle plantar flexion weakness.[12] Radovanović treadmill mounted on four 3D strain-gauge force transducers.[17] et al. showed that temporal and stride characteristics were For each patient, the highest comfortable walking speed on the altered in DM1 and DM2 compared to healthy controls.[13] treadmill was recorded. Since previous studies have probably not elucidated all the gait abnormalities in DM1, we decided to assess gait in a group of Gait was assessed by 3D analysis. DM1 patients. Our study included a functional assessment and Segmental kinematics were measured with the Elite System (BTS, a three-dimensional (3D) motion analysis (including kinematic, Italy) at 200 Hz. Eight CCD-infrared cameras measured the 3D kinetic, and mechanical parameters, electromyography [EMG], coordinates of 19 reflective markers positioned on specific and energy cost). Hence, the objectives of the present study anatomical landmarks. Euler angles and Newtonian mechanics were to (i) characterize gait abnormalities in a population of were used to compute the angular displacements of the pelvis, hip, patients with DM1 and (ii) analyze the relationship between knee, and ankle.[18] For each participant, 10 successive walking gait variables and functional impairment. The results should cycles were recorded and averaged. Data were normalized allow an improvement of the rehabilitation interventions. against time expressed as a percentage of the gait cycle, with Preliminary results of this study were presented at the 0% corresponding to the initial foot contact on the analyzed Biomechanical Society Congress in Toulouse (France) in side. Spatiotemporal parameters were assessed as 3D kinematics [19] October 2012 and published in a short report.[14] according to the method described by Mickelborough et al. Kinetics MATERIALS AND METHODS Kinetic data (Mz: muscle moment and Mk: power) were Participants computed by synchronization of the kinematics and 3D ground The study participants were all affected by DM1 and had a reaction forces (GRFs). The algorithm described by Davis and [20] confirmed molecular diagnosis (>50 CTG repeats) aged from Cavanagh enables determination of the CoP and vertical GRF 14 to 53 years. They were recruited from the NMD outpatient under each foot. Using an inverse dynamic approach, exploitation center at Saint-Luc University Hospital (Brussels, Belgium). of the GRF, kinematic, and anthropometric data enabled us to The participants had to be able to walk at least 100 m without compute the net joint moments of the hip, knee, and ankle in the [18] assistance and were not included in the study if they presented sagittal plane. The power at each joint was calculated as the any of the following criteria: inability to walk on the treadmill, product of the angular speed and the net joint moment. damage to the central nervous system or musculoskeletal Mechanical parameters system that could affect the person’s ability to walk, and The total positive mechanic work (Wtot) performed by the finally, pregnancy. muscles during walking was divided into two components: (i) A total of 15 patients participated to this study (10 males the external work (Wext) performed to move the center of body and 5 females; mean ± standard deviation [SD] age: mass (COMb) relative to the surroundings and (ii) the internal 38.1 ± 11.4 years; mean time since disease onset: work (Wint) performed to move body segments relative to 16.3 ± 7.9 years). All the participants had been provided with the COMb. The internal and external works were computed written information on the study’s objective and protocol and following the method described by Willems et al.[21,22] had given their written, informed consent before involvement Electromyography in any study-specific procedures. The muscle electrical activity of the vastus lateralis (VL), This study was approved by the Independent Ethics Committee semitendinosus (ST), tibilalis anterior(TA), and gastrocnemius at Saint-Luc University Hospital. lateralis (GL) muscles was recorded by a wireless EMG system (BTS, Italy) through surface electrodes (Medi-Trace, Data collection Graphic Controls Corporation, NY, USA). The onset and cessation The participants underwent a clinical examination and of muscle activity were both visually and mathematically
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