Journal of neuromuscular diseases最新文献

{"title":"Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status.","authors":"George Umemoto, Yoichi Hatamoto, Hajime Arahata, Shinsuke Fujioka, Yukiya Tanoue, Yosuke Yamada, Rie Tomiga-Takae, Yasuki Higaki","doi":"10.1177/22143602261477473","DOIUrl":"10.1177/22143602261477473","url":null,"abstract":"<p><p>Background & AimsMyotonic dystrophy type 1 (DM1) is frequently associated with metabolic abnormalities and altered body composition, yet energy metabolism under free-living conditions remains incompletely characterized. This study aimed to characterize total energy expenditure (TEE) using the doubly labeled water (DLW) method and to examine its associations with body composition and functional status. Estimated energy balance was also explored as a secondary variable.MethodsTwelve patients with genetically confirmed DM1 were included. TEE was assessed using the DLW method. Body composition was evaluated using multifrequency bioelectrical impedance analysis. Energy intake was estimated from dietary records, and energy balance was calculated as energy intake minus TEE. Associations were examined using correlation analyses.ResultsThe mean TEE was 990 ± 169 kcal/day. TEE showed moderate positive associations with skeletal muscle mass and fat-free mass, and functional status was moderately associated with body weight-adjusted TEE. The mean energy intake was 1,355 ± 229 kcal/day, resulting in a positive energy balance of 366 ± 282 kcal/day; however, energy balance was not associated with body fat percentage or fat mass.ConclusionsDLW-measured free-living TEE was markedly low in DM1 patients with severe mobility limitation and reduced lean body mass despite largely normal BMI values. Estimated energy balance was not associated with adiposity. These findings suggest that functional severity and body composition should be considered when interpreting energy expenditure in DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261477473"},"PeriodicalIF":3.5,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13442684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148678465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prospective study of efgartigimod in severe myasthenia gravis exacerbations requiring ventilatory or enteral support.","authors":"Shahar Shelly, Ayal Rosenberg, Mohamad Zoabi, Saliba Makhoul, Roni Ramon-Gonen, Gil I Wolfe","doi":"10.1177/22143602261450402","DOIUrl":"10.1177/22143602261450402","url":null,"abstract":"<p><p>Background and objectivesTo evaluate the safety and clinical efficacy of efgartigimod in adults with severe generalized myasthenia gravis (MG) exacerbations requiring ventilatory or enteral support.MethodsProspective, single-arm, open-label study conducted between November 2024 and April 2025. Sixteen consecutive adults with AChR- or MuSK-antibody-positive generalized MG requiring invasive or non-invasive ventilatory support or enteral feeding were enrolled; all met 2016 MG Guidelines criteria for impending myasthenic crisis. MGFA classification included Class IIIb (n=14), IIIa (n=1), and IVb (n=1). The primary endpoint was clinically meaningful improvement (CMI) in MG Activities of Daily Living (MG-ADL), defined as ≥2-point reduction from baseline at weeks 4 and 8.ResultsAll 16 participants (mean age 58.5±17.4 years; 8 women) completed eight weeks of follow-up. At week 8, 12 patients (75%; 95% CI 47-91%) achieved the primary endpoint. Median MG-ADL decreased from 11 (IQR 9-13) to 7 (IQR 6-9) (median change -5 points; p=0.003). Median QMG decreased from 21 (IQR 19-23) to 13 (IQR 11-16) (median change -7.5 points; p<0.001), with 56% meeting QMG-CMI by week 1. Among 12 participants receiving corticosteroids (mean starting dose 21.2 mg/day), 50% reduced or discontinued by week 8. No treatment-related serious adverse events occurred.DiscussionEfgartigimod produced rapid, clinically meaningful improvement in severe MG exacerbations without safety concerns. FcRn blockade may represent a practical alternative to plasma exchange or IVIG in acute care settings. Findings are limited by the absence of a control arm, which precludes definitive attribution of clinical improvement to efgartigimod alone.Clinical trials registrationNCT06688253.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261450402"},"PeriodicalIF":3.5,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13442902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148684893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study.","authors":"Elisabeth C M de Laat, Jan T Groothuis, Karlijn Bouman, Saskia L S Houwen-van Opstal, Corrie E Erasmus, Nicol C Voermans","doi":"10.1177/22143602261465467","DOIUrl":"10.1177/22143602261465467","url":null,"abstract":"<p><p>BackgroundLAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are rare congenital muscle diseases characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. The LAST STRONG study is a natural history study to identify suitable outcome measures and reach trial readiness for LAMA2-MD and SELENON-RM.MethodsPatients had four visits over 1.5-years. Assessments included neurological examination, hand-held dynamometry (HHD), functional assessments (Motor Function Measurements(MFM)-20/32, graded and timed function tests), accelerometry, and questionnaires on quality of life, activities and participation, pain, and fatigue.ResultsA total of 27 LAMA2-MD (21 years, range 3-50; 9 males) and 11 SELENON-RM (20 years, range 3-42; 8 males) patients were included. In LAMA2-MD, mean HHD scores for neck extensors, biceps brachii, quadriceps, foot plantar flexors and handgrip strength increased (all p < 0.02). In SELENON-RM, biceps brachii and foot plantar flexors increased (p < 0.01). In LAMA2-MD, functional assessments did not change significantly. In SELENON-RM, MFM-20/32 total score and domain 1 decreased (p < 0.05), 6-Minute Walk Test (6MWT) decreased (p < 0.01) and 10-Meter Walk Test (10MWT) increased (p < 0.01). Accelerometry showed a significant change in moderate activity in LAMA2-MD (p <0.01), no changes were observed in SELENON-RM.DiscussionOver 1.5 years, LAMA2-MD remained mostly stable, while SELENON-RM showed minimal functional decline on select outcome measures. Both cohorts showed HHD increases, likely reflecting age-related development. Most measures did not capture disease progression, however MFM-20/32, 6MWT and 10MWT showed small significant changes in SELENON-RM, suggesting potential trial endpoints.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261465467"},"PeriodicalIF":3.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148653837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1.","authors":"Wander J A Aarts, Basil P A P van Veen, Cas J Fuchs, Claudia Côté, Linda Hover, Luc J C van Loon, Daniel Keszthelyi, Karlien Mul, Catharina G Faber, Isis B T Joosten","doi":"10.1177/22143602261470256","DOIUrl":"10.1177/22143602261470256","url":null,"abstract":"<p><p>BackgroundMyotonic dystrophy type 1 (DM1) is associated with reduced physical activity, overweight and cardiovascular morbidity. Nutritional management requires accurate estimation of total daily energy expenditure (TEE), based on basal metabolic rate (BMR) and physical activity level (PAL). However, DM1-related changes in body composition may reduce the accuracy of commonly used BMR equations. This study evaluated BMR equation accuracy in DM1 versus controls, and assessed PAL and substrate oxidation.MethodsIn this secondary analysis of a prospective case-control study, 15 DM1 patients were compared with 15 age-, sex-, and BMI-matched controls. Body composition was measured using dual-energy X-ray absorptiometry. Overnight metabolic rate (OMR) was assessed by room calorimetry and compared with standard predictive equations (Harris-Benedict, WHO, Mifflin-St Jeor). Additionally, OMR was compared to body composition-based equations (Wang, Nelson, Sabounchi structures 4, 5, and 11). TEE was measured over 15 days using doubly labeled water. PAL was calculated as TEE/OMR, and substrate oxidation was assessed using the respiratory exchange ratio (RER).ResultsStandard predictive equations significantly overestimated metabolic rate in DM1, with median biases of +100 to +165 kcal/day (+7% to +12%, p<0.01), with no significant bias in controls. Structure 11 performed best in DM1 (+0.0%, p=1.000). PAL was lower in DM1 than in controls (1.42 vs. 1.69, p<0.001), whereas RER did not differ.ConclusionCommon predictive equations overestimate energy requirements in DM1. Body composition-based approaches or correction factors may improve estimation, while low PAL should be considered when estimating TEE. These findings have direct implications for nutritional management in DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261470256"},"PeriodicalIF":3.5,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13439005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148648649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with <i>COL6A3</i> c.7447A>G.","authors":"Rocio Nur Villar-Quiles, A Reghan Foley, Corinne Metay, Rotem Orbach, Sandra Donkervoort, Beatrice Labella, Daniel Natera-de Benito, Andres Nascimento, Berta Estevez-Arias, Cecilia Jimenez-Mallebrera, Carlos Ortez, Cristina Domínguez-González, Alejandro Horga, Maria Itxaso Marti Carrera, Roberto Fernandez Torron, Sergei Kurbatov, Paulina Chausova, Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Rodrigo Frezzati, Alzira Carvalho, Anne Waschbisch, Valerie Allamand, Yaqun Zou, Pascale Richard, Carsten G Bönnemann, Tanya Stojkovic","doi":"10.1177/22143602261453996","DOIUrl":"10.1177/22143602261453996","url":null,"abstract":"<p><p>Collagen VI is a key component of the extracellular matrix. Murine models suggest that it regulates Schwann cell differentiation, peripheral nerve myelination and regeneration after injury. Neuropathic findings in <i>COL6</i>-related dystrophies (COL6-RDs) have been rarely reported, often based on electromyography findings without nerve conduction abnormalities. We report 37 patients (1.5-79 years), from 32 different families, carrying the <i>COL6A3</i>-c.7447A>G variant, presenting with neuropathic/neuromyopathic findings. Most patients presented in the first decade of life with an abnormal gait and frequent falls (54%), delayed motor milestones (32%) and foot deformities (19%). Predominant distal weakness was present in 46% of patients, whereas 27% exhibited proximo-distal involvement. Foot deformities were present in 32%; joint contractures were present in 83%, exclusively affecting lower limbs in 49%. At last evaluation, mild restrictive respiratory insufficiency was diagnosed in 1 patient and nocturnal hypoventilation requiring non-invasive ventilation in 2. Most patients (89%) remained ambulant at last assessment. Nerve conduction studies (n=29) revealed reduced lower-limb CMAP amplitudes in 79%. Needle EMG (n=31) revealed chronic neurogenic-like features in 84% and mixed neuromyogenic features in 13%. Muscle biopsy (n=12) demonstrated features suggestive of neuropathic involvement in 4 (33%) and mixed neuropathic-myopathic features in 5 (42%). Muscle imaging (n=23) revealed a typical COL6-RD pattern in 48% (with severe distal lower limb atrophy in 65%), and isolated or predominant distal atrophy in 30%. Inheritance was autosomal recessive in all cases. The <i>COL6A3</i>-c.7447A>G variant was present in homozygosity in 24 (65%) and in compound heterozygosity with a second <i>COL6A3</i> variant in 13 (35%), including 8 previously unreported. We report an expanding phenotypic spectrum associated with COL6-RD, underscoring its relevance in the diagnostic evaluation of distal motor neuropathy-like or neuromyopathic presentations.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261453996"},"PeriodicalIF":3.5,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148603883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac autonomic dysfunction is associated with advanced stage, fast progression and poor survival in amyotrophic lateral sclerosis.","authors":"Zehui Li, Jingjing Fan, Zhenxiang Gong, Jiahui Tang, Yuan Yang, Fengfei Ding, Li Ba, Mao Liu, Min Zhang","doi":"10.1177/22143602261472982","DOIUrl":"10.1177/22143602261472982","url":null,"abstract":"<p><p>ObjectiveTo investigate the association of cardiac autonomic dysfunction with clinical staging and disease progression rate upon diagnosis of amyotrophic lateral sclerosis (ALS), and its impact on survival.Methods24-hour Holter was performed in 95 ALS patients at diagnosis and 39 controls. Patients were grouped by King's Clinical Staging and progression rate (ΔFS, median cut-off 0.67). Heart rate variability parameters were compared across groups. A survival-based cut-point optimization approach was used to determine the cut-off value of standard deviation of all normal-to-normal intervals (SDNN). Kaplan-Meier estimator and multivariable Cox regression analysis were used to evaluate of the effect of SDNN on survival during a median follow-up of 21.5 months.ResultsΔFS in ALS patients in King's Stage 4 upon diagnosis was faster (<i>P</i>=0.007) compared to that of those diagnosed in earlier stages, featuring a higher incidence of respiratory (<i>P</i><0.001) and bulbar symptoms (<i>P</i><0.001). In addition, ALS patients in King's Stage 4 exhibited elevated HR-min (<i>P</i>=0.007) and decreased RR intervals (RRI) (<i>P</i>=0.032), SDNN (<i>P</i>=0.004), and standard deviation of the averages of NN intervals in all 5-min segments (SDANN) values (<i>P</i>=0.020) compared to controls. Patients in the ΔFS-fast group had a higher HR-min than those in the ΔFS-slow group (<i>P</i>=0.013) and controls (<i>P</i>=0.003) and lower SDNN (<i>P</i>=0.018) than controls. Both Kaplan-Meier estimator (<i>P</i>=0.03) and multivariable Cox regression analysis (<i>P</i>=0.019) showed that lower SDNN (cut-off value: 111 ms) was associated with poor survival in ALS patients.ConclusionUpon diagnosis, ALS patients in King's Stage 4 and with faster disease progression demonstrated significantly diminished cardiac autonomic control. Lower SDNN was associated with poor survival in ALS.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261472982"},"PeriodicalIF":3.5,"publicationDate":"2026-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148592290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of intermittent corticosteroids on scoliosis, bone density, and vertebral fractures in duchenne muscular dystrophy.","authors":"Nadine A Ikelaar, Louise S M Blok, Mees H P Stoop, Yvonne D Krom, Julia Bongers, Petra Dibbets-Schneider, Erik W van Zwet, Pieter Bas de Witte, Erik H Niks","doi":"10.1177/22143602261472975","DOIUrl":"10.1177/22143602261472975","url":null,"abstract":"<p><p>IntroductionSpinal involvement is common in Duchenne muscular dystrophy (DMD), specifically scoliosis and vertebral fractures. Treatment with corticosteroids (CS) delays scoliosis onset, but also induces low bone mineral density, increasing fracture risk.ObjectiveAssess long-term effects of intermittent CS on scoliosis development, bone mineral density and vertebral fractures in DMD.MethodWe retrospectively analysed real-world data from a single national reference center in the Netherlands. Spinal imaging was obtained by yearly anteroposterior radiographs. Scoliosis was defined as lateral spinal curvature with a Cobb angle of >10°. Yearly lumbar spine bone mineral density (LSBMD) Z-scores were measured with dual-energy X-ray absorptiometry (DXA) scans of the lumbar spine. Vertebral fractures were evaluated using yearly vertebral fractures assessments (VFA).ResultsWe included 86 individuals with DMD who visited the outpatient clinic between 2002 and 2022, aged 4-18 years. Seventy-five patients (87.2%) developed scoliosis (median age 11.0 years), mostly after loss of ambulation. Scoliosis progressed to >20° in 40 (46.5%) and to >30° in 29 (33.7%) of all patients. Spinal fusion was performed in 20 (23.3%) of all patients (median age 18.5 years). Cobb angles significantly increased after loss of ambulation (LoA) (p<0.001).Mean height SDS was -0.8. LSBMD Z-score declined below -2.0 in 27 (31.4%) patients and was significantly lower after LoA (p<0.001). Of 86 patients, 64 underwent VFAs, with 16 (25%) developing vertebral fractures during follow-up, mostly asymptomatic (87.5%).ConclusionIndividuals with DMD on intermittent CS experience a higher incidence of scoliosis, fewer vertebral fractures, and generally maintain higher LSBMD Z-scores compared to published data on patients receiving daily CS.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261472975"},"PeriodicalIF":3.5,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148579054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases.","authors":"Alessandra Pennisi, Alexandru Caramizaru, Gianmarco Severa, Damien Sternberg, Andreea Dumitrescu, Corinne Metay, Valerie Biancalana, Robert Yves Carlier, Susana Quijano-Roy, Edoardo Malfatti, Amelia Dobrescu","doi":"10.1177/22143602261454427","DOIUrl":"10.1177/22143602261454427","url":null,"abstract":"<p><p><i>MEGF10</i> biallelic variants cause early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD), congenital myopathies with cores, and later-onset myopathies with respiratory failure. As <i>MEGF10</i> plays a key role in satellite cells proliferation and differentiation, these disorders are considered primary Satellite Cell-opathies. We present clinical, genetic, and laboratory findings from three patients with <i>MEGF10</i>-related myopathy from two families: a 6-year-old boy with EMARDD, and two siblings with a milder myopathy with respiratory involvement. Patient 1, male, showed decreased fetal movements and profound neonatal hypotonia with respiratory failure, requiring tracheostomy soon after birth. At 6 years, he had lack of head and trunk control, scoliosis, and upper limbs antigravity movements. Muscle MRI revealed mild-to-moderate, symmetrical fibro-fatty replacement affecting scapular, paravertebral, gluteal and adductor muscles, with bilateral absence of the semimembranosus. Muscle biopsy revealed a reduction of Pax7-positive satellite cells. Genetic studies disclosed the novel homozygous <i>MEGF10</i> c.337T>C, p.(Cys113Arg) variant. Patient 2 is a 24-year-old woman with myopathic facies, progressive axial and generalized weakness, and thoracolumbar scoliosis at 11 years, leading to progressive respiratory involvement necessitating tracheostomy at 14 years. Her 17-year-old brother, patient 3, experienced a threatened abortion and perinatal complications consisting of neonatal hypoxia, right arm monoplegia, and clavicle fracture, followed by motor delay, scoliosis and progressive respiratory dysfunction, requiring non-invasive ventilation at 16 years. P2 and P3 harbour the novel homozygous c.917G>C, p. (Arg306Pro) <i>MEGF10</i> pathogenic variant. We describe three new patients with <i>MEGF10</i>-related myopathy, showing severe but variable clinical expression, associated with two novel variants.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261454427"},"PeriodicalIF":3.5,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148579139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assisted leg cycle exercise for wheelchair users with muscular dystrophy.","authors":"Nanna S Poulsen, Jonas J Loft, Rebecca K Andersen, John Vissing","doi":"10.1177/22143602261471196","DOIUrl":"10.1177/22143602261471196","url":null,"abstract":"<p><p>BackgroundWheelchair users with muscular dystrophy face health challenges from their condition, sedentary lifestyle, and wheelchair use. While exercise benefits are well-documented in healthy individuals, its effects in wheelchair users with muscular dystrophy are underexplored: low muscle mass might limit exercise benefits. This study investigates benefits and adverse events of assisted leg cycling to improve fatigue, pain, constipation, and quality of life in wheelchair users with muscular dystrophy.MethodsWheelchair users with muscular dystrophy were tested at baseline, after a 10-week control period, and after 10 weeks of assisted leg cycling (20 minutes, 3 times/week). Efficacy outcomes were changes in fatigue, lower back/leg pain, constipation, and quality of life. Secondary outcomes included changes in exercise performance, cardiovascular response, and metabolic health. A 1.5-year follow-up of voluntary training evaluated long-term effects.ResultsNineteen participants enrolled; two dropped out. Lower back pain and fatigue decreased and physical quality of life improved. Constipation did not change overall but improved in more than half of participants. HbA1c decreased by 2 mmol/mol, mainly in two participants with diabetes. Blood lipids, leg pain, cycling time, and power output showed no changes. Benefits persisted or improved over 1.5 years in participants with a high adherence.DiscussionAssisted cycling may reduce lower back pain, improve quality of life, and possibly decrease fatigue and constipation in wheelchair users with muscular dystrophy. Furthermore, exercise likely lowers HbA1c, particularly in individuals with diabetes. These findings suggest that assisted cycling is a feasible health intervention for wheelchair users with muscular dystrophy.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261471196"},"PeriodicalIF":3.5,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148562316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myocardial fat fraction in Becker muscular dystrophy and women carrying pathogenic <i>DMD</i> gene variants assessed by Dixon cardiac MRI.","authors":"Zhe Lyu, Bjørk Teitsdóttir, Heini Joensen, Maria Buhl Hjortrup, Anna Slipsager, Adam Espe Hansen, Niels Vejlstrup, John Vissing, Nanna Scharff Poulsen","doi":"10.1177/22143602261448701","DOIUrl":"10.1177/22143602261448701","url":null,"abstract":"<p><p>Background/ObjectivePathogenic variants in the dystrophin gene (<i>DMD</i>) cause dystrophinopathies. These variants can cause skeletal and cardiac involvement. Disease progression in skeletal muscle is characterized by fatty replacement, but whether similar processes occur in the myocardium remain unclear. Dixon cardiovascular magnetic resonance (CMR) can quantify myocardial fat fraction (FF). This study used Dixon CMR to quantify myocardial FF in patients with BMD and women carrying <i>DMD</i> gene variants, and to explore associations with cardiac function, assessed by left ventricular ejection fraction (LVEF), age, and skeletal muscle FF.MethodsThis cross-sectional study included 20 patients with BMD, 27 women carrying <i>DMD</i> gene variants, and 40 healthy controls who underwent three-point Dixon CMR to quantify myocardial FF. Muscle MRI was performed to assess lower-limb muscle FF.ResultsMyocardial FF did not differ significantly among the three groups (<i>p =</i> 0.11); mean values were 10.0% in patients with BMD, 11.2% in women carrying <i>DMD</i> gene variants, and 10.4% in healthy controls. Subgroup analyses showed no significant differences between patients with BMD and healthy men or between women carrying <i>DMD</i> gene variants and healthy women. Myocardial FF was not associated with LVEF, age, or skeletal muscle FF.ConclusionsDixon CMR revealed no increase in myocardial FF in patients with BMD or women carrying <i>DMD</i> gene variants compared with healthy controls. Unlike skeletal muscle, myocardial remodeling in dystrophinopathies does not appear to be adipogenic and is likely predominantly fibrotic. Dixon CMR is useful for skeletal muscle imaging but has limited clinical use for myocardial assessment.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261448701"},"PeriodicalIF":3.5,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148536026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}