Neuromuscular Disorders

Article	Citations
P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings	126
P137 Prophylactic use of cardiac medications and prolonged survival in Duchenne muscular dystrophy	58
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9	50
P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency	44
P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients	42
DMD – ANIMAL MODELS	41
P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters	36
P.17 Importance of routine pulmonary check-up prior to ventilatory support in patients with Duchenne muscular dystrophy	36
P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy	35
P61 High dose localized muscle irradiation: Hedgehog pathway as a new therapeutic target	33
P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation	32
P443 A case of Charcot-Marie-Tooth Type 4F	31
P295 Functional improvements by ataluren in dysferlinopathy mice with a compound heterozygous mutations carrying one nonsense variant	30
P33 RKER-065 ameliorated muscle and bone loss in a progressive murine model of Duchenne muscular dystrophy	30
P304 JOURNEY: a multicenter, longitudinal natural history study of limb girdle muscular dystrophy	27
P311 Facioscapulohumeral muscular dystrophy European patient survey: assessing patient preferences in clinical trial participation	27
INV09 Novel repeat disorders in muscle disease: the emergence of OPDM	26
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants	25
P164 Development of a myotube model for C-terminal titin studies	24
P251 Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in novel bmx model mice	23
SMA - TREATMENT	23
APPLICATION OF NEXT GENERATION TECHNOLOGIES	22
SMA - TREATMENT	22
VP.28 Psychometric properties of muscle strength assessment by hand-held dynamometry in healthy adults: A reliability study	19
Treatment with L‐Citrulline in patients with post‐polio syndrome: A single center, randomized, double blind, placebo‐controlled trial	19

Serum miRNAs as biomarkers for the rare types of muscular dystrophy	19
Idiopathic eosinophilic myositis: a systematic literature review	18
WMS General Information	18
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders	18
WMS General Information	17
ENMC Themed Workshop announcement	17
Editorial Board	17
A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review	17
P.144a Muscle ultrasound in an open-label study of losmapimod in subjects with FSHD1	16
MOTOR NEURON DISORDERS AND NEUROPATHIES	16
P.135 Safety and tolerability of losmapimod for the treatment of FSHD	16
LGMD	16
355P A comprehensive education and training programme for healthcare professionals in care and research for Duchenne muscular dystrophy developed from DMD Care UK and the DMD Hub	15
DMD/BMD - GENETICS	15
156P Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia	15
Diagnostic delay in patients with FKRP-related muscular dystrophy	15
326P Acute adverse events after Zoledronic acid infusion are uncommon in patients with Duchenne muscular dystrophy previously treated with oral bisphosphonates	14
81P Minimal clinically important differences in dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study	14
624P A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy and familial amyotrophic lateral sclerosis.	14
95P Development of a myotropic gene therapy towards a first treatment for LGMDR7	13
WMS 2024 Full Programme	13
209P Custom orthosis improves mobility and caregiver experience in an adolescent with congenital myasthenic syndrome and myofibrillar myopathy	13
365P Duchenne video assessment 2.0 scorecard performance: evaluation of inter-item and inter-scorecard relationships	13
279P Exploring myogenic tremor in an animal model of MYBPC1-associated myopathy: a comprehensive study	13
389P Natural history of bone health in Duchenne muscular dystrophy: A systematic review and implications for the design of a clinical trial	12
46P Congenital myopathies and muscular dystrophies in the UK: a comprehensive next generation sequencing analysis of frequencies over an 8-year period (2016-2023)	12
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A	12
366P Social Vulnerability in Duchenne Muscular Dystrophy: The Impact on Boys and Carrier Mothers	12
203P Towards a better analysis of SMN2 structures and variants by complete sequencing of the SMN locus in an international cohort of 564 SMA patients	12
10O The neonatal screening of SMA in Ukraine: the 18 months of experience	12
Whole-body muscle MRI in McArdle disease	11
534P Clinical and genetic characterization of Brazilian patients with TK2 deficiency	11
Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase	11
686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome	11
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis	11
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A	11
271P Exploring the effects of the epi-drug Remodelin on murine myoblasts differentiation	11
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls	10
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study	10
WMS General Information	10
253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands	10
Emerging and established biomarkers of oculopharyngeal muscular dystrophy	10
DMD – ANIMAL MODELS	10
VP.21 Baseline nutrition investigation in a Chinese cohort of pediatric patients with spinal muscular atrophy	10
Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center	10
P.43 Evaluating knee ankle foot orthoses in children with type 1 spinal muscular atrophy	10
DISTAL MYOPATHIES	10
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES	9
P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy	9
O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa	9

P50 A phase 1/2 randomized, placebo-controlled, multiple ascending dose study (ACHIEVE) of DYNE-101 in individuals with myotonic dystrophy type 1 (DM1)	9
CONGENITAL MYOPATHIES	9
P418 Dominant cardioskeletal titinopathies reflect distinct mechanisms of disease	9
P.214 Utility of ENMG in children with rare genetic neurogenic disorders: a case series	9
O18 Topline safety and efficacy data analysis of phase 1/2 clinical trial evaluating AOC 1001 in adults with myotonic dystrophy type 1: MARINA TM	9
INV11 Motor neuron and muscle involvement in SBMA: therapeutic implications	9
P392 Assessing the cognitive effect of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder using eye tracking: a case report	8
P346 Late and very late onset of McArdles’ myopathy without myoglobinuria	8
Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’	8
Obituary: Professor Annie Barois (1930-2024)	8
225P Initial data from the DELIVER trial of DYNE-251 in males with DMD Mutations amenable to Exon 51 skipping	8
P194 The Duchenne registry: key milestones and advances of a patient-report registry	8
P09 Real-world treatment with risdiplam in adults with spinal muscular atrophy (SMA): a multicenter study	8
Characteristics of Guillain-Barré syndrome in a Lebanese tertiary care center	8
Editorial Board	8
ENMC Themed Workshop announcement	8
P262 Validation lab: allowing standardized in vitro and in vivo experiments for candidate treatments for Duchenne muscular dystrophy	8
P112 ‘Going when you have to’ – a national survey on problems in urinating when away from home for women with NMD - Project HAP-PEE part 2	8
P.204 Blood based biomarker discovery in DM1	8
WMS 2022 Flyer	8
P.144 Developing Cas13-ADAR-mediated DUX4 mRNA editing as a prospective therapy for FSHD	8
P.193 Phosphoryl guanidine-containing backbone modifications enhance exon skipping, dystrophin restoration and survival in a severe mouse model for DMD	8
P109 The effect of a two-week intensive and individualized physiotherapy intervention for patients with rare genetic neuromuscular disorders: a quality improvement study	8
TNNT1 myopathy with novel compound heterozygous mutations	7
Defining the landscape of TIA1 and SQSTM1 digenic myopathy	7
DMD – CLINICAL CARE	7
Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1	7
METABOLIC MYOPATHIES	7
VP.73 Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy	7
Novel association of gluten sensitivity with immune-mediated neuromuscular syndrome in a dog	7
Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study	7
Clinical potential of microdystrophin as a surrogate endpoint	7
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders	7
531P The French registry of glycogen storage disease type 3	7
UPDATE IN NEUROMUSCULAR DISORDERS	7
155P The experience of parents as they make treatment decisions for their child with spinal muscular atrophy and the factors that influence these decisions: a narrative review	7
ENMC Themed Workshop announcement	7
80P Evaluating the clinical significance of single heterozygous likely pathogenic and pathogenic variants for autosomal recessive limb-girdle muscular dystrophies in a highly specialised service for r	7
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation	7
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis	7
581P Toxic autophagic vacuolar myopathies and the role of human leukocyte antigen class I molecules and membrane attack complex in its pathogenesis	7
523P Rare disease register: McArdle disease and glycogenoses	7
The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study	7
496P Recessive missense variants in DARS2 gene as novel cause of axonal Charcot-Marie-Tooth disease	7
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?	6
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy	6
505VP Safety and effectiveness of ravulizumab in gMG: evidence from a global registry	6
192P A community-based experience with the new 12-Tier functional ability scale for Evolving Spinal Muscular Atrophy (EVOLVE-SMA)	6
DMD - BIOMARKERS	6
P.145 Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies	6
P134 Energetics and acid-base status of skeletal muscle at rest and following isometric dorsiflexion and plantar flexion contractions in Duchenne muscular dystrophy	6
587P White matter lesions and genetic muscular diseases: an overview	6
597VP Vacuolar myopathy with permanent weakness: case report with imaging, muscle biopsy, and molecular features	6
ENMC Themed Call 2023-2024 Announcement	6
P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial	6
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype	6
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite	6
403P CONNECT1-EDO51: a 12-week open-label Phase 2 study to evaluate PGN-EDO51 safety and efficacy in people with Duchenne amenable to exon 51 skipping	6
INV02 High throughput functional assays to improve interpretation of rare variants discovered in neuromuscular disease genes	6
NEUROMUSCULAR JUNCTION RELATED DISORDERS	6
139P Treatment effects on ambulation loss in Spinal Muscular Atrophy Type III: insights from the Italian ISMAC registry	6
I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease	6
P22 WVE-N531 yields 53% mean exon 53 skipping in skeletal muscle of boys with Duchenne muscular dystrophy (DMD) after three biweekly doses	6
Reflections on the World Muscle Society	6
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients	6
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study	6
22O Mexiletine versus lamotrigine in non-dystrophic myotonias – a randomised, double-blinded, cross-over trial	6
329P Siblings with Duchenne muscular dystrophy: a chart review to explore associations between age of diagnosis and clinical disease outcomes	6
OUTCOME MEASURES	6
POMPE DISEASE	6
DMD/BMD – OUTCOME MEASURES	6
462P Evaluating EEG as an outcome measure for CNS Symptoms in myotonic dystrophy type 1: a clinical trial analysis	6
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient	6
P284 Gene replacement therapy for telethonin related limb-girdle muscular dystrophy R7 utilizing novel myotrophic AAV capsids	5
P72 Sensor-derived measurements of upper and lower extremity function in people with type II and III SMA	5
CLINICAL RESEARCH	5
CONGENITAL MYOPATHIES	5
DMD – CLINICAL CARE	5
P.89 Immune-mediated necrotizing myopathy associated with anti-SRP Antibodies: Three cases in Korea	5
FSHD	5

OTHER NMDs	5
INV04 Accounting for phenotypic variability in clinical outcomes	5
P.102 Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study	5
DMD – ANIMAL MODELS	5
DMD – CLINICAL CARE	5
VP306 Computed tomography with color reconstruction in a group of R9 limb-girdle muscular dystrophy patients with c.1387A>G mutation	5
INV15 RNA-targeted therapy for ALS	5
VP.27 Potential of the Keeogo+, a lightweight wearable powered assistive exoskeleton in patients with neuromuscular disorders: preliminary findings	5
P.40 The importance of bulbar/respiratory symptoms in spinal muscular atrophy: results from interviews with patients, caregivers and healthcare providers	5
CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES	5
DMD – ANIMAL MODELS	5
P.134a Phase 1/2a trial of delandistrogene moxeparvovec in patients with DMD: 4-year update	5
O03 In vivo gene therapy for striated muscle laminopathy	5
VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR	5
P.209 Prevalence of healthcare conditions and services used by patients with myotonic dystrophy (DM) pre- and post-diagnosis: A real-world data analysis	5
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering	5
P.111 Nusinersen in children and adults with spinal muscular atrophy in Argentina: Real world experienc	5
O17 6’-sialyllactose supplementation in GNE myopathy: a pilot and subsequent placebo-controlled study	5
P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease	5
Neuropathic pain	5
CLINICAL TRIAL HIGHLIGHTS	5
P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome	5
FSHD	5
VP.46 Dermatomyositis-specific autoantibodies and muscle MRI findings	5
METABOLIC MYOPATHIES	5
P.208 The neurocognitive phenotype of childhood Myotonic dystrophy type 1: A multicenter pooled analysis	5
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care	5
P124 A series of dysferlinopathy patients showing fluctuations in muscle fat fraction and contractile cross-sectional area values (cCSA) over a 3-year follow-up period	5
VP.29 Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease; a prospective study	5
P318 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy	5
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre	4
Editorial Board	4
P223 Long-term follow-up of onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy (SMA) type 1	4
09O The clinical and molecular landscape of genetic neuromuscular disorders in Senegal, West Africa	4
566P ClC-1 chloride channel inhibition improves disease symptoms and survival in a rat model of muscle-specific kinase (MuSK) myasthenia gravis	4
Table of Contents for the Main Abstracts	4
SMA - TREATMENT	4
P323 Differences in clinicopathology and therapeutic response of idiopathic inflammatory myopathy with anti-SRP, HMGCR, and mitochondrial M2 antibodies	4
590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy	4
Corrigendum to ‘The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever’ [Neuromuscular Disorders 32 (2022) 575–577]	4
204P A phase 1 study of antisense oligonucleotide NS-035 in patients with Fukuyama congenital muscular dystrophy	4
452P Genetic confirmation of myotonic dystrophy type II after allogeneic stem cell transplant	4
317VP Overview of a cohort of 35 manifesting dystrophinopathy females – and addressing the forthcoming challenges	4
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient	4
125P A review of the management and outcomes of children with SMA in the West Midlands, UK during 2017-2022	4
Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome	4
Quality of life in hypokalemic periodic paralysis - a survey	4
Mild form of Danon disease: two case reports	4
Muscle Biopsy A Practical Approach 5th Edition	4
SMA – OUTCOME MEASURES AND REGISTRIES	4
P234 Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy	4
Editorial Board	4
66P Clinical and molecular complexity in desminopathy: description of a novel variant in DES gene	4
27P Muscle ultrasound findings in paediatric patients with TTN gene related congenital myopathy	4
526P Clinical spectrum and treatment in paediatric TANGO2 deficiency disorder	4
648P MRI demonstrates altered skeletal muscle membrane permeability in Becker muscular dystrophy, representing a potential biomarker for disease activity	4
Prediction of respiratory impairment in myotonic dystrophies using the ‘Respiratory involvement symptom checklist’ (Respicheck)	4
25P Data trends and highlights from The Global Registry for COL6-related dystrophies	4
524P Grip strength in McArdle disease	4
P51 Phase 1/2 study to evaluate AOC 1020 for adult patients with facioscapulohumeral muscular dystrophy: FORTITUDE trial design	4
P382 Disease spectrum of myopathies with elevated aldolase and normal creatine kinase	4
P335 Inhibition of KDM5A reverses pathological features in sporadic Inclusion Body Myositis-like cell models	4
VP71 Exploring the construct validity and reliability of sensor-based measurements derived from active motor assessments in adult walkers with SMA	4
258P Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old: phase 4 OFELIA study	4
634P Retrospective analysis of muscle biopsy findings in a cohort of patients with facioscapulohumeral dystrophy type 1	4
222P Development of a standardized information model for rare neuromuscular diseases	4
Pancreatitis in RYR1-related disorders	4
VP.79 Challenges in genetic diagnosis of LAMA2-MD - when the pieces do not fit	3
P.26 Motor and cognitive manifestations of young female carriers of Duchenne muscular dystrophy (DMD): a prospective natural history study	3
APPLICATION OF NEXT GENERATION TECHNOLOGIES	3
P.191 RKER-065, a novel muscle and bone anabolic, increased muscle, grip strength and trabecular bone in a mouse model of Duchenne muscular dystrophy	3
P.22 Age at loss of ambulation in patients with DMD from the STRIDE registry and the CINRG natural history study: A matched cohort analysis	3
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2	3
Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients	3
MOTOR NEURON DISORDERS AND NEUROPATHIES	3
MYOTONIC DYSTROPHY	3
VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa	3
P408 Clinical and pathologic characterization of a novel homozygous CFL2 mutation in a patient with nemaline myopathy type 7	3
PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS	3
SMA - TREATMENT	3
P.180 Diagnostic range of targeted next-generation sequencing in a single center experience with limb-girdle muscular dystrophy	3
P.13 What is the future for female patients with childhood onset symptomatic Duchenne muscular dystrophy?	3
VP.23 Survey about the prevalence of urinary symptoms and abnormal renal function in adults with Duchenne muscular dystrophy (DMD)	3
DMD - BIOMARKERS	3
I.10 Gene therapy and other novel treatment approaches for CMT	3
P218 Patients’ perceptions of the effects of Spinraza according to their status as a responder or non-responder	3
P.66 Predicting trajectories of ambulatory function in Duchenne muscular dystrophy (DMD)	3
VP114 A new coronal view-based muscle MRI in the evaluation of patients with myopathy	3
IMAGING	3
SMA – OUTCOME MEASURES AND REGISTRIES	3
P.217 Cervical spinal cord MRI parameters as predictors of early degeneration in asymptomatic C9Orf72 carriers: a longitudinal study.	3
IMAGING	3
The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy	3
FP.32 BAG3 p.P209L variant leads to changes in nuclear and actomyosin dynamics and impairment of the transmission of mechanical signals	3
MYOTONIC DYSTROPHY	3