Neuromuscular Disorders最新文献

{"title":"210P Advancing upper limb motor function evaluation in Duchenne muscular dystrophy and spinal muscular atrophy via kinematic parameterization with the wearable device “ArmTracker”","authors":"D. Natera De Benito ,&nbsp;A. Favata ,&nbsp;J. Expósito-Escudero ,&nbsp;R. Gallart ,&nbsp;O. Moya ,&nbsp;S. Roca ,&nbsp;A. Marzabal Gatell ,&nbsp;L. van Noort ,&nbsp;C. Ortez ,&nbsp;C. Torras ,&nbsp;A. Nascimento ,&nbsp;J. Medina-Cantillo ,&nbsp;R. Pàmies Vilà ,&nbsp;J. Font-Llagunes","doi":"10.1016/j.nmd.2024.07.061","DOIUrl":"10.1016/j.nmd.2024.07.061","url":null,"abstract":"<div><div>Assessing upper limb motor function in Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) traditionally relies on the Performance of Upper Limb (PUL) and Revised Upper Limb Module (RULM) scales, respectively. While considered gold standards, using these scales in isolation presents some challenges, notably in capturing subtle changes in motor function over time or in response to treatments. Inertial Measurement Units (IMUs) are inertial sensors that provide objective and quantifiable movement data. We hypothesize that integrating IMU measurements into these scales could provide complementary data for a more comprehensive assessment of motor function in individuals with neuromuscular diseases. Ten children with DMD (aged 12-17, Brooke score 2-5), 10 children with SMA (aged 6-13, Brooke score 2-5), and 6 healthy control children (aged 5-17, Brooke score 1) performed the PUL and RULM scales while wearing the ArmTracker device, equipped with 7 IMUs (Xsens Dot, Xsens Technologies) placed on the back of the hands, forearms, arms, and torso. Each IMU provided quaternion data. A sensor-to-segment calibration process was conducted with subjects seated in a chair with forearms resting on a table. Photographs were taken in frontal and lateral planes during calibration, and this visual information was integrated with IMU data to enhance calibration accuracy. Euler angles YZ'Y’’ for the shoulder, and ZX'Y’’ for the elbow and wrist were utilized. Maximum reachable area of hands, workspace area, and range of motion of shoulder, elbow, and wrist were evaluated and correlated with motor function scale scores using the Spearman correlation coefficient. Workspace area was normalized by the maximum achievable area by individuals (in %). We found significant correlations between the workspace area of upper limbs, notably on the frontal plane, and the scores of both the PUL and RULM. Additionally, significant correlations were observed between the scores of both motor function scales and the range of motion (ROM) of the shoulder. Furthermore, a correlation matrix analyzing the angles of the three primary upper limb joints revealed compensation patterns, which proved particularly valuable in identifying compensatory movements during the shoulder abduction task within the scales. Employing inertial sensors during the administration of functional motor scales in individuals with neuromuscular diseases yields valuable variables for assessing motor function, with particular interest in workspace area of the upper limbs and ROM of the shoulder. These and other variables are currently under further investigation within the same cohort of individuals who have undergone evaluations at home and school spanning four days utilizing the ArmTracker. This ongoing research aims to ascertain the system's potential for conducting assessments at home and assessing real-life movements in everyday scenarios.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.52"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"208P Are people living with neuromuscular disorders in the north of England satisfied with National Health Service wheelchair service provision?","authors":"J. Michell-Sodhi,&nbsp;D. Moat,&nbsp;T. Dias,&nbsp;J. Mason,&nbsp;E. Robinson,&nbsp;M. Schiava,&nbsp;E. Barr,&nbsp;C. Bolano,&nbsp;S. Doaa,&nbsp;K. Wong,&nbsp;E. Maha,&nbsp;G. Emma,&nbsp;G. Michela,&nbsp;M. Michelle,&nbsp;G. Tasca,&nbsp;J. Diaz-Manera,&nbsp;M. James,&nbsp;V. Straub,&nbsp;C. Marini-Bettolo,&nbsp;R. Muni-Lofra","doi":"10.1016/j.nmd.2024.07.059","DOIUrl":"10.1016/j.nmd.2024.07.059","url":null,"abstract":"<div><div>People living with neuromuscular disorders (NMD) often describe weakness, reduced mobility, falls, pain and fatigue as factors requiring mobility support with a wheelchair (WC). The timely and appropriate provision of mobility aids, including WC can help manage symptoms and improve quality of life for both patient and care givers. Optimising WC provision is essential in facilitating independence in functional ability, participation and activities of daily living. This is particularly relevant for those who are reliant on powered wheelchair (PWC) provision during waking hours to enable independent mobility. The specific WC prescription needs of persons with NMD are not well documented. Within the UK, regional variations in WC provision exist leading to disparity and dissatisfaction with the provided service. The aim of this project was to understand National Health Service WC provision and level of satisfaction with WC prescription in our clinical cohort. We surveyed 149 wheelchair users with NMD living in the North of England between 2019-2023. Respondents were aged 3-81 years, with a mean age 33 years. 42 respondents were paediatric. Diagnoses included Duchenne muscular dystrophy (45), spinal muscular atrophy (22), myotonic dystrophy (14), limb girdle muscular dystrophy (12), and Becker muscular dystrophy (13). 82 respondents used PWC, 49 a manual WC (MWC) and 17 power-assisted MWC. A third of respondents felt that their needs were not met by their current WC prescription. 15% of respondents reported delay in WC provision. This survey highlights concern at current practises in WC provision in the North of England and the need to determine evidence-based best practice guidelines for WC prescription for persons with NMD more generally.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.50"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"WMS 2024 Full Programme","authors":"","doi":"10.1016/S0960-8966(24)00952-0","DOIUrl":"10.1016/S0960-8966(24)00952-0","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104456"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"123P The difficult path to diagnosis of the patient with spinal muscular atrophy","authors":"C. Bolano Diaz ,&nbsp;M. Morosini ,&nbsp;F. Chloca ,&nbsp;L. Mesa ,&nbsp;A. Jauregui ,&nbsp;L. Pirra ,&nbsp;G. Vazquez ,&nbsp;D. Flores ,&nbsp;A. Dubrovsky","doi":"10.1016/j.nmd.2024.07.030","DOIUrl":"10.1016/j.nmd.2024.07.030","url":null,"abstract":"<div><div>News treatments make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyse the different factors that influence delay in diagnosis. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0–7), SMA II: 9 (R: 2–20), SMA III: 18 (R: 8–180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The top-3 detected signs were: SMA I: hypotonia (38.5%), developmental delay (33.3%), feeding difficulties (17.9%); SMA II: inability to stand (23%), inability to walk unaided (23%), proximal weakness (23%); SMA III: frequent falls (50%), unsteady gait (20.8%), developmental delay (16.7%). The median time from first sign to first medical consultation was less than a month in all 3 types. The SMN genetic study was requested by the healthcare professional during the first consultation in 22.5% of SMA I patients, 16.7% of SMA II patients and in none of the SMA III patients. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0–11), in SMA II: 10 (R: 3–46), in SMA III: 31.5 (R: 4–288). There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.21"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"130P Real-life outcome data on Risdiplam therapy for spinal muscular atrophy","authors":"R. Lavi ,&nbsp;L. Sagi ,&nbsp;S. Katzenellenbogen ,&nbsp;A. Shtamler ,&nbsp;A. Weizman ,&nbsp;I. Opincariu ,&nbsp;A. Fattal-Valevski","doi":"10.1016/j.nmd.2024.07.037","DOIUrl":"10.1016/j.nmd.2024.07.037","url":null,"abstract":"<div><div>Risdiplam is an orally administered novel small molecule approved for the treatment of spinal muscular atrophy (SMA), a rare and debilitating neuromuscular disorder. Risdiplam acts as a survival motor neuron (SMN) 2 splicing modifier, promoting the production of functional SMN protein, which is crucial for motor neuron survival and function. By increasing SMN protein levels, risdiplam compensates for the deficiency caused by SMN1 gene mutations, the underlying genetic cause of SMA. We collected the clinical outcome data of all individuals with SMA treated with risdiplam at the SMA clinic in a large tertiary hospital. The study participants included 22 individuals who received risdiplam between 5 months and 24 years of age (median age 15 years, interquartile range [IQR] 12-21) and whose median follow-up duration was 16 ([IQR] 9.3-19.1) months. Of these patients, 18 were previously treated with intrathecal nusinersen and 4 patients were treatment naive. Compared to baseline, in SMA type 1 patients, Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scores were stable or slightly increased by a median of 0.4 points at last follow-up, while in SMA types 2-3 patients Hammersmith Functional Motor Scale Expanded (HFMSE) scores showed a mild increase by a median of 2 points at last follow-up and Revised Upper Limb Module (RULM) scores showed an increase of 1 point. No changes in ventilatory status or bulbar function were noted during risdiplam follow-up. Five out of 22 patients had mild adverse effects, including headache, vomiting, nausea and rash which resolved within days. Overall, risdiplam was well tolerated, easy to handle and led to stable or slightly improved motor function outcomes in SMA patients.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.28"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"274P Generation of cardiac organoids from DuchenneMuscularDystrophy patient-derived induced pluripotent stem cells: a novel approach to understanding cardiomyopathy","authors":"M. Przymuszała,&nbsp;J. Stępniewski,&nbsp;U. Florczyk-Soluch,&nbsp;J. Dulak","doi":"10.1016/j.nmd.2024.07.092","DOIUrl":"10.1016/j.nmd.2024.07.092","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by mutations in the dystrophin gene. Cardiomyopathy is the leading cause of death in DMD patients, but the exact mechanisms underlying it remain unclear. Due to the limitations of animal models, patient-derived human models need to be developed to investigate cardiac pathophysiological mechanisms better. Hence, 3D human cardiac organoids (hCOs) are designed to more closely resemble the structural and functional properties of the human heart than traditional 2D cell cultures or animal models. For this purpose, we generated DMD patient-derived induced pluripotent stem cells (hiPSC) and corrected DMD mutation with CRISPR/Cas9 gene editing, establishing isogenic control lines. Healthy controls and CRISPR/Cas9 edited cells with introduced DMD gene exon 50 deletion were also sources for these cell types. Under specified culture conditions, these stem cells differentiate into various cardiac cell types, including cardiomyocytes (CM), endothelial cells (EC), and cardiac fibroblasts (CF). We affirmed the presence of specific markers (troponin T for CM, DDR2 for CF, and CD31 and VE-cadherin for EC), indicating successful differentiation. Self-aggregation of CM, CF, and EC at controlled ratios (CM: 75%, CF: 15%, EC: 15%) resulted in the formation of 3D cardiac organoids. Overall, we successfully generated cardiac organoids from hiPSCs derived from DMD patients, healthy donors, and isogenic control samples, which will be used to understand the mechanisms of DMD cardiomyopathy further. Grants support: National Science Centre: MAESTRO 2018/30/A/NZ3/00412.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.83"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen","authors":"J. Balkenhol ,&nbsp;M. Beytia ,&nbsp;J. Jofre ,&nbsp;B. Suarez ,&nbsp;C. Hervias ,&nbsp;G. Calcagno ,&nbsp;C. Castiglioni","doi":"10.1016/j.nmd.2024.07.025","DOIUrl":"10.1016/j.nmd.2024.07.025","url":null,"abstract":"<div><div>There are few reports on the response to Nusinersen therapy in Spinal Muscular Atrophy (SMA) type 1 patients with tracheostomy and in an advanced stage of the disease. We present long term follow-up from two Chilean centers, which collectively manage 94 pediatric patients with SMA on disease-modifying therapies. To describe the motor response to Nusinersen treatment in SMA1 patients with tracheostomy based on the CHOP-INTEND scale. A total of 13 patients were included in the study (SMA type; 1A n= ; 1B n=5; 1C n=3, 7 males (54%), with 12 having 2 copies of the SMN2 gene (92%) and one with 3 copies (8%), all requiring tracheostomy and gastrostomy, 11 of them (85%) were users prior to the start of Nusinersen therapy. Patients had a mean age of 4 months and 2 weeks at diagnosis (range 1 month - 9 months) and an average age of 4 years 1 month (range 1 month and 8 years 5 months) at the start of treatment. Follow-up was performed using the CHOP-INTEND scale. The average follow-up duration for the patients was 4 years and 5 months, from the start of therapy until the present date, until their death or change of therapy, with a range from 1 year and 6 months to 5 years and 4 months. Most patients continued to require tracheostomy and gastrostomy during follow-up. All patients showed improvement on the motor scale, on a variable degree. One patient showed an increase in 44 points and five patients in 10 points or more. One patient experienced adverse effects during treatment. No children discontinued treatment due to adverse events. One patient died during follow-up due to sudden death. All patients with advanced type 1 SMA continued to require tracheostomy and gastrostomy after receiving therapy. All patients showed improvements in the motor scale, but the response varied among patients with significant points and ranges, the majority significant. None without response. Only one patient experienced adverse effects and one died.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.16"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"124P Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease","authors":"G. Haliloğlu ,&nbsp;S. Donkervoort ,&nbsp;B. Weisburd ,&nbsp;S. Öz Yıldız ,&nbsp;S. Ceylaner ,&nbsp;L. Pais ,&nbsp;A. O'Donnell-Luria ,&nbsp;C. Bönnemann","doi":"10.1016/j.nmd.2024.07.031","DOIUrl":"10.1016/j.nmd.2024.07.031","url":null,"abstract":"<div><div>Genome sequencing adds an important diagnostic tool for patients with unsolved or atypical phenotypes. Here we describe the diagnostic journey in a patient with an atypical progressive course of riboflavin and thiamine responsive neurodegeneration, who is finally diagnosed with SMA through genome sequencing. The patient is a 28-year-old female presenting at age 4 years with fever, nausea, vomiting and leg pain, followed by itchy lesions on the soles of the feet, burning pain, frequent falls, and foot drop. At age 6-7 years, she developed progressive lower and then upper extremity weakness with loss of independent ambulation at age 10 years. She had scoliosis surgery at age 14 years and developed sudden respiratory failure requiring full-time ventilation via tracheostomy at age 19 years. She had progressive tongue and facial fasciculations with a dramatic response to high dose riboflavin and thiamine supplementation. Family history was significant for an undiagnosed older brother who passed away at age 7 years, who presented with a fever episode at age 2 years followed by progressive difficulty in walking and steppage gait. EMG and muscle biopsy revealed chronic neurogenic changes. Testing for SMN (RT-PCR) was negative. Repeat-SMN testing (MLPA) revealed heterozygous carrier status for the common SMN exon 7 deletion. Three independent WES studies were unrevealing. Research-based genome sequencing with an SMA centric re-analysis tool identified a novel missense variant c.809G&gt;T p.(Ser270Ile) in SMN1, which was previously not recognized as located in SMN1. While exome sequencing did not allow the position of this variant to be unambiguously resolved between SMN1 and SMN2, genome sequencing did unambiguously position the variant on SMN1 via phasing with intronic sequence differences between SMN1 &amp; SMN2. SMN2 copy number was 1. The parental data enabled a determination of compound heterozygosity. Location of intragenic mutations in SMN1 are expected to contribute to clinical severity. In the era of diseases modifying treatments, WGS, followed by direct gene sequencing, ended this diagnostic odyssey lasting more than two decades.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.22"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"219P Enhancing clinical trial eligibility criteria in FSHD: validating whole-body MRI as a key outcome measure","authors":"P. Widholm ,&nbsp;M. Karlsson ,&nbsp;J. Pini ,&nbsp;A. Puma ,&nbsp;L. Villa ,&nbsp;M. Cavali ,&nbsp;A. Ezaru ,&nbsp;G. Bassez ,&nbsp;B. Marty ,&nbsp;T. Evangelista ,&nbsp;R. Thomas ,&nbsp;L. Danjoux ,&nbsp;C. Tard ,&nbsp;S. Sacconi","doi":"10.1016/j.nmd.2024.07.070","DOIUrl":"10.1016/j.nmd.2024.07.070","url":null,"abstract":"<div><div>The heterogeneous disease progression in FSHD makes assessing treatment response in clinical trials challenging. Quantitative whole-body MRI has been recognized as a promising technique to address these challenges, but there are limited data from its use in natural history studies. The overall aim of the CTRN FSHD France study (NCT03458832) is to validate new outcome measures, define minimal clinically important change, and establish FSHD characteristics useful for determining clinical trial eligibility criteria. Up to 70 ambulatory FSHD1 patients with symptomatic limb weakness aged 18-75 will be included and followed for 24 months. In addition to whole-body MRI, the study will also assess muscle strength and function, as well as several patient-reported outcome measures. 68 patients successfully completed the baseline analysis, including MRI. The median (min, max) age was 50 (21, 75) years, with CSS 6 (1, 9) and 6 (2, 10) D4Z4-repeats. The muscle fat fraction (MFF) was 7% (1, 91), 21% (2, 96), 6% (1, 87), and 31% (2, 100) in the arms, legs, rotator cuffs, and torso, respectively. We have successfully implemented quantitative whole-body MRI in a natural history study of a FSHD cohort with baseline characteristics resembling what can be expected in clinical trials. Initial analysis of disease progression after 12 months is expected to be available this fall.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.61"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"220VP Wearable sensors to evaluate and monitor neuromuscular patients in real world environment","authors":"E. Diella ,&nbsp;F. Storm ,&nbsp;L. Molteni ,&nbsp;M. Delle Fave ,&nbsp;G. Canella ,&nbsp;G. Meola ,&nbsp;E. Biffi ,&nbsp;M. D'Angelo","doi":"10.1016/j.nmd.2024.07.071","DOIUrl":"10.1016/j.nmd.2024.07.071","url":null,"abstract":"<div><div>Wearable sensors are becoming increasingly popular for complementing standard clinical assessments of gait deficits and for remote monitoring patient's motor function in real world. Monitoring gait during the 6MWT offers an opportunity to investigate the dynamic changes that occur in prolonged walking. Besides, continuous monitoring at home gives information on patient's daily physical activity. Our first aim is to determine if gait parameters worsen during sustained walking in patients affected by myotonic dystrophy (MD). Our secondary aim is to evaluate the feasibility of acquiring physical activity biomarkers in daily living conditions. We collected data of 30 patients with MD during a standard 6MWT wearing a sensor (GSensor, BTS) at L5 level. Gait parameters were extracted from raw signals, corresponding to early, middle and late segments of the 6MWT and we applied non-parametric tests to compare gait segments. Home monitoring for extraction of physical activity data will be performed using a wearable sensor (DynaPort 7, McRoberts) worn consecutively for 7-days. Preliminary results show an increase in gait acceleration and significant changes in smoothness and stability of gait in the MD group between the early and the late section of the 6MWT. Our preliminary results suggest that gait parameters associated to fatigability can be measured during a 6MWT using a wearable device and that the method allows to highlight variations during sections of the 6MWT in patients with MD. Evaluating patients with a neuromuscular disease in their ecologic setting could significantly impact rehabilitation management with the aim of promoting an active lifestyle.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.62"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}