Neuromuscular Disorders

Article	Citations
P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings	127
P137 Prophylactic use of cardiac medications and prolonged survival in Duchenne muscular dystrophy	63
P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency	51
P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients	47
DMD – ANIMAL MODELS	44
P.17 Importance of routine pulmonary check-up prior to ventilatory support in patients with Duchenne muscular dystrophy	41
P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy	37
P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters	37
P61 High dose localized muscle irradiation: Hedgehog pathway as a new therapeutic target	36
P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation	35
P443 A case of Charcot-Marie-Tooth Type 4F	34
P33 RKER-065 ameliorated muscle and bone loss in a progressive murine model of Duchenne muscular dystrophy	31
P295 Functional improvements by ataluren in dysferlinopathy mice with a compound heterozygous mutations carrying one nonsense variant	30
P311 Facioscapulohumeral muscular dystrophy European patient survey: assessing patient preferences in clinical trial participation	28
P304 JOURNEY: a multicenter, longitudinal natural history study of limb girdle muscular dystrophy	28
INV09 Novel repeat disorders in muscle disease: the emergence of OPDM	27
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants	26
P164 Development of a myotube model for C-terminal titin studies	25
P251 Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in novel bmx model mice	24
SMA - TREATMENT	23
SMA - TREATMENT	23
APPLICATION OF NEXT GENERATION TECHNOLOGIES	22
WMS General Information	22
A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review	20
ENMC Themed Workshop announcement	19

WMS General Information	19
P.135 Safety and tolerability of losmapimod for the treatment of FSHD	18
P.144a Muscle ultrasound in an open-label study of losmapimod in subjects with FSHD1	18
LGMD	18
Editorial Board	18
MOTOR NEURON DISORDERS AND NEUROPATHIES	18
DMD/BMD - GENETICS	17
624P A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy and familial amyotrophic lateral sclerosis.	17
156P Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia	17
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	17
326P Acute adverse events after Zoledronic acid infusion are uncommon in patients with Duchenne muscular dystrophy previously treated with oral bisphosphonates	16
81P Minimal clinically important differences in dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study	16
279P Exploring myogenic tremor in an animal model of MYBPC1-associated myopathy: a comprehensive study	16
95P Development of a myotropic gene therapy towards a first treatment for LGMDR7	15
209P Custom orthosis improves mobility and caregiver experience in an adolescent with congenital myasthenic syndrome and myofibrillar myopathy	15
389P Natural history of bone health in Duchenne muscular dystrophy: A systematic review and implications for the design of a clinical trial	14
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A	14
WMS 2024 Full Programme	14
46P Congenital myopathies and muscular dystrophies in the UK: a comprehensive next generation sequencing analysis of frequencies over an 8-year period (2016-2023)	14
365P Duchenne video assessment 2.0 scorecard performance: evaluation of inter-item and inter-scorecard relationships	14
10O The neonatal screening of SMA in Ukraine: the 18 months of experience	13
534P Clinical and genetic characterization of Brazilian patients with TK2 deficiency	13
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	13
686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome	13
366P Social Vulnerability in Duchenne Muscular Dystrophy: The Impact on Boys and Carrier Mothers	13
271P Exploring the effects of the epi-drug Remodelin on murine myoblasts differentiation	13
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9	12
Whole-body muscle MRI in McArdle disease	12
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis	12
Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase	12
Emerging and established biomarkers of oculopharyngeal muscular dystrophy	12
Idiopathic eosinophilic myositis: a systematic literature review	12
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A	12
253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands	11
Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center	11
Treatment with L‐Citrulline in patients with post‐polio syndrome: A single center, randomized, double blind, placebo‐controlled trial	11
Diagnostic delay in patients with FKRP-related muscular dystrophy	11
Serum miRNAs as biomarkers for the rare types of muscular dystrophy	11
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study	10
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
VP.21 Baseline nutrition investigation in a Chinese cohort of pediatric patients with spinal muscular atrophy	10
P.214 Utility of ENMG in children with rare genetic neurogenic disorders: a case series	10
VP.28 Psychometric properties of muscle strength assessment by hand-held dynamometry in healthy adults: A reliability study	10
P.43 Evaluating knee ankle foot orthoses in children with type 1 spinal muscular atrophy	10
WMS General Information	10
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES	10
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders	10
DMD – ANIMAL MODELS	10
P50 A phase 1/2 randomized, placebo-controlled, multiple ascending dose study (ACHIEVE) of DYNE-101 in individuals with myotonic dystrophy type 1 (DM1)	10
DISTAL MYOPATHIES	10

O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa	9
P194 The Duchenne registry: key milestones and advances of a patient-report registry	9
CONGENITAL MYOPATHIES	9
P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy	9
P418 Dominant cardioskeletal titinopathies reflect distinct mechanisms of disease	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
WMS 2022 Flyer	8
P.193 Phosphoryl guanidine-containing backbone modifications enhance exon skipping, dystrophin restoration and survival in a severe mouse model for DMD	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
P346 Late and very late onset of McArdles’ myopathy without myoglobinuria	8
P.144 Developing Cas13-ADAR-mediated DUX4 mRNA editing as a prospective therapy for FSHD	8
Defining the landscape of TIA1 and SQSTM1 digenic myopathy	8
Editorial Board	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
P.204 Blood based biomarker discovery in DM1	8
P09 Real-world treatment with risdiplam in adults with spinal muscular atrophy (SMA): a multicenter study	8
Obituary: Professor Annie Barois (1930-2024)	8
Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study	8
225P Initial data from the DELIVER trial of DYNE-251 in males with DMD Mutations amenable to Exon 51 skipping	8
DMD – CLINICAL CARE	8
Characteristics of Guillain-Barré syndrome in a Lebanese tertiary care center	8
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
P262 Validation lab: allowing standardized in vitro and in vivo experiments for candidate treatments for Duchenne muscular dystrophy	8
581P Toxic autophagic vacuolar myopathies and the role of human leukocyte antigen class I molecules and membrane attack complex in its pathogenesis	8
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation	8
ENMC Themed Workshop announcement	8
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	8
P.145 Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies	7
DMD - BIOMARKERS	7
531P The French registry of glycogen storage disease type 3	7
ENMC Themed Workshop announcement	7
METABOLIC MYOPATHIES	7
NEUROMUSCULAR JUNCTION RELATED DISORDERS	7
DMD/BMD – OUTCOME MEASURES	7
329P Siblings with Duchenne muscular dystrophy: a chart review to explore associations between age of diagnosis and clinical disease outcomes	7
VP.73 Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy	7
496P Recessive missense variants in DARS2 gene as novel cause of axonal Charcot-Marie-Tooth disease	7
The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study	7
INV02 High throughput functional assays to improve interpretation of rare variants discovered in neuromuscular disease genes	7
OUTCOME MEASURES	7
I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease	7
P134 Energetics and acid-base status of skeletal muscle at rest and following isometric dorsiflexion and plantar flexion contractions in Duchenne muscular dystrophy	7
523P Rare disease register: McArdle disease and glycogenoses	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
UPDATE IN NEUROMUSCULAR DISORDERS	7
POMPE DISEASE	7
192P A community-based experience with the new 12-Tier functional ability scale for Evolving Spinal Muscular Atrophy (EVOLVE-SMA)	6
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy	6
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype	6
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?	6
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care	6
ENMC Themed Call 2023-2024 Announcement	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
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study	6
Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’	6
505VP Safety and effectiveness of ravulizumab in gMG: evidence from a global registry	6
587P White matter lesions and genetic muscular diseases: an overview	6
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders	6
TNNT1 myopathy with novel compound heterozygous mutations	6
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering	6
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients	6
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient	6
Reflections on the World Muscle Society	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
Novel association of gluten sensitivity with immune-mediated neuromuscular syndrome in a dog	6
139P Treatment effects on ambulation loss in Spinal Muscular Atrophy Type III: insights from the Italian ISMAC registry	6
22O Mexiletine versus lamotrigine in non-dystrophic myotonias – a randomised, double-blinded, cross-over trial	6
462P Evaluating EEG as an outcome measure for CNS Symptoms in myotonic dystrophy type 1: a clinical trial analysis	6
Clinical potential of microdystrophin as a surrogate endpoint	6
Quality of life in hypokalemic periodic paralysis - a survey	6
Pancreatitis in RYR1-related disorders	6
P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial	6
Antisense oligonucleotide-mediated redirection of Igf1 alternative polyadenylation	6
Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1	6
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis	6
597VP Vacuolar myopathy with permanent weakness: case report with imaging, muscle biopsy, and molecular features	6
Editorial Board	5
Editorial Board	5
P335 Inhibition of KDM5A reverses pathological features in sporadic Inclusion Body Myositis-like cell models	5

P382 Disease spectrum of myopathies with elevated aldolase and normal creatine kinase	5
P.102 Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study	5
VP71 Exploring the construct validity and reliability of sensor-based measurements derived from active motor assessments in adult walkers with SMA	5
P.111 Nusinersen in children and adults with spinal muscular atrophy in Argentina: Real world experienc	5
P284 Gene replacement therapy for telethonin related limb-girdle muscular dystrophy R7 utilizing novel myotrophic AAV capsids	5
DMD – CLINICAL CARE	5
P318 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy	5
METABOLIC MYOPATHIES	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
P.208 The neurocognitive phenotype of childhood Myotonic dystrophy type 1: A multicenter pooled analysis	5
O03 In vivo gene therapy for striated muscle laminopathy	5
VP.27 Potential of the Keeogo+, a lightweight wearable powered assistive exoskeleton in patients with neuromuscular disorders: preliminary findings	5
Muscle Biopsy A Practical Approach 5th Edition	5
SMA - TREATMENT	5
P323 Differences in clinicopathology and therapeutic response of idiopathic inflammatory myopathy with anti-SRP, HMGCR, and mitochondrial M2 antibodies	5
DMD – ANIMAL MODELS	5
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]	5
DMD – ANIMAL MODELS	5
Neuropathic pain	5
VP.29 Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease; a prospective study	5
CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES	5
P.89 Immune-mediated necrotizing myopathy associated with anti-SRP Antibodies: Three cases in Korea	5
O17 6’-sialyllactose supplementation in GNE myopathy: a pilot and subsequent placebo-controlled study	5
FSHD	5
OTHER NMDs	5
P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome	5
P.134a Phase 1/2a trial of delandistrogene moxeparvovec in patients with DMD: 4-year update	5
CLINICAL TRIAL HIGHLIGHTS	5
CLINICAL RESEARCH	5
SMA – OUTCOME MEASURES AND REGISTRIES	5
P234 Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy	5
DMD – CLINICAL CARE	5
P72 Sensor-derived measurements of upper and lower extremity function in people with type II and III SMA	5
CONGENITAL MYOPATHIES	5
INV15 RNA-targeted therapy for ALS	5
VP.46 Dermatomyositis-specific autoantibodies and muscle MRI findings	5
VP306 Computed tomography with color reconstruction in a group of R9 limb-girdle muscular dystrophy patients with c.1387A>G mutation	5
INV04 Accounting for phenotypic variability in clinical outcomes	5
P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease	5
FSHD	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
P.40 The importance of bulbar/respiratory symptoms in spinal muscular atrophy: results from interviews with patients, caregivers and healthcare providers	5
Contents	4
27P Muscle ultrasound findings in paediatric patients with TTN gene related congenital myopathy	4
648P MRI demonstrates altered skeletal muscle membrane permeability in Becker muscular dystrophy, representing a potential biomarker for disease activity	4
657P Cipaglucosidase alfa + miglustat in late-onset Pompe disease: two non-ambulatory patients switching from high-dose, high-frequency alglucosidase alfa	4
204P A phase 1 study of antisense oligonucleotide NS-035 in patients with Fukuyama congenital muscular dystrophy	4
13INV AAV delivery of mini- and full-length dystrophins	4
66P Clinical and molecular complexity in desminopathy: description of a novel variant in DES gene	4
Table of Contents for the Main Abstracts	4
P51 Phase 1/2 study to evaluate AOC 1020 for adult patients with facioscapulohumeral muscular dystrophy: FORTITUDE trial design	4
586P Visualization of degenerative processes of the myofibers on muscle pathology in OPDM based on single nucleus RNA-seq data	4
275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the Netherlands	4
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient	4
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre	4
Prediction of respiratory impairment in myotonic dystrophies using the ‘Respiratory involvement symptom checklist’ (Respicheck)	4
487P 2024 update of the national French consensus on gene lists for the diagnosis of muscular diseases using high-throughput sequencing	4
222P Development of a standardized information model for rare neuromuscular diseases	4
526P Clinical spectrum and treatment in paediatric TANGO2 deficiency disorder	4
693P Proposed NIH core for advanced genetic therapies: spotlight on clinical development of AAV products for neuromuscular disorders	4
524P Grip strength in McArdle disease	4
317VP Overview of a cohort of 35 manifesting dystrophinopathy females – and addressing the forthcoming challenges	4
125P A review of the management and outcomes of children with SMA in the West Midlands, UK during 2017-2022	4
634P Retrospective analysis of muscle biopsy findings in a cohort of patients with facioscapulohumeral dystrophy type 1	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
Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis	4
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	4
677P The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1	4
557P Skin manifestations of immune-mediated necrotizing myopathy with anti-HMGCR antibody	4
P223 Long-term follow-up of onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy (SMA) type 1	4
200P Minimal detectable change of the Revised Hammersmith Scale in patients with spinal muscular atrophy	4
452P Genetic confirmation of myotonic dystrophy type II after allogeneic stem cell transplant	4
Mild form of Danon disease: two case reports	4
572P Dysphagia pattern in inclusion body myositis as a distinguishing feature: insight from a patient initially presenting with rapidly progressing dysphagia	4
25P Data trends and highlights from The Global Registry for COL6-related dystrophies	4
590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy	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
636P Longitudinal insights into childhood onset facioscapulohumeral dystrophy: a five-year natural history study	4
Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study	4
671P Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe disease	4
604P Descriptive analysis of Duchenne muscular dystrophy patients included in the Swedish National Registry for neuromuscular disorders	4
IMAGING	3
APPLICATION OF NEXT GENERATION TECHNOLOGIES	3
P408 Clinical and pathologic characterization of a novel homozygous CFL2 mutation in a patient with nemaline myopathy type 7	3
P172 Exploring the diagnostic ability of RNA-seq to identify disease-causing variants in muscular dystrophy	3
SMA – OUTCOME MEASURES AND REGISTRIES	3
IMAGING	3
P.26 Motor and cognitive manifestations of young female carriers of Duchenne muscular dystrophy (DMD): a prospective natural history study	3
O11 Long-read nanopore sequencing in FSHD patients reveals CpG methylation patterns including methylation gradients in contracted D4Z4 arrays	3
SMA - TREATMENT	3
PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS	3
VP114 A new coronal view-based muscle MRI in the evaluation of patients with myopathy	3
P16 An investigational AAV8 gene therapy coding for a novel microdystrophin as a treatment for Duchenne muscular dystrophy	3