Neuromuscular Disorders最新文献

{"title":"Non-invasive assessment of microvascular changes in a Duchenne muscular dystrophy rat model with near-infrared spectroscopy.","authors":"Margarita Egiian, Rasa Eskandari, Susan Tyler, Mamadou Diop, Lisa Hoffman","doi":"10.1016/j.nmd.2026.107463","DOIUrl":"https://doi.org/10.1016/j.nmd.2026.107463","url":null,"abstract":"<p><p>Near-infrared spectroscopy (NIRS) is a non-invasive technique for assessing tissue oxygenation and microvascular function. It may be particularly useful in Duchenne muscular dystrophy (DMD), where progressive vascular alterations contribute to disease pathophysiology. However, the relationship between optical markers and underlying histological features remains poorly established. NIRS measurements were acquired from six DMD rats and six age-matched wild-type controls at 4 and 5 weeks of age to assess tissue oxygenation and hemodynamics in the hindlimb muscle and brain. After the second measurement, the gastrocnemius muscle and the diaphragm were collected for histological analysis and immunostaining. The Mann-Whitney U test was used for independent group comparisons, and the Wilcoxon Signed-Rank Test was used for paired data. Associations between histological and optical markers were evaluated using Spearman's rank correlation. NIRS-derived optical measurements demonstrated strong correlations with muscle microvascular architecture, particularly microvessel-to-fibre ratio, supporting their utility as proxies for histological features. No significant differences were observed in brain oxygenation parameters between genotypes. In contrast, skeletal muscle in DMD rats exhibited reduced oxygen extraction, suggesting impaired metabolic or microvascular function. NIRS provides a promising non-invasive approach for assessing microvascular and metabolic alterations in DMD. However, further validation across tissues and disease stages is required. These findings support the development of NIRS-based biomarkers for longitudinal monitoring and early detection of functional deficits in DMD.</p>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"69 ","pages":"107463"},"PeriodicalIF":3.5,"publicationDate":"2026-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149323250","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":"Pathogen identification by shotgun metagenomics in inflammatory myopathies: a prospective observational study reporting the first European case of Anncaliia algerae myositis.","authors":"Andrei-Valentin Brîncuș, Cécile Angebault, Nadège Wesner, Sarah Leonard-Louis, Alexandre Le Joncour, Camille Blandin, Pascal Richette, Philippe Poirier, Olivier Benveniste, Christophe Rodriguez, Françoise Botterel, Yves Allenbach","doi":"10.1016/j.nmd.2026.107458","DOIUrl":"https://doi.org/10.1016/j.nmd.2026.107458","url":null,"abstract":"<p><p>This study highlights the utility of shotgun metagenomics (SMg) in the diagnosis of infectious myositis, focusing on a rare case of Anncaliia algerae infection in an immunocompromised patient. This is among the first reports of SMg application in inflammatory myopathies. We conducted a monocentric prospective observational study at Pitié-Salpêtrière Hospital (2021-2024), including patients with inflammatory myopathies and suspected infectious etiologies. Diagnosis was based on clinical symptoms, paraclinical findings, myopathological examination, and SMg performed using DNA/RNA sequencing with the Illumina NextSeq 500® sequencing system and the MetaMIC® bioinformatics pipeline. Among nine patients, SMg identified A. algerae in a kidney transplant recipient with severe myositis and myocarditis. Standard microbiological techniques, including blood tests and muscle biopsy staining, failed to accurately identify the pathogen. Despite specific therapy (albendazole), the infection was fatal, underscoring the pathogen's aggressiveness in immunocompromised hosts. Other patients either recovered spontaneously or with immunosuppressants. This study demonstrates the diagnostic advantage of SMg in infectious myopathies, especially for rare pathogens like A. algerae. The unbiased nature of SMg enables pathogen identification when conventional methods fail, guiding targeted treatments. Early SMg use could improve outcomes in immunocompromised patients and warrants integration into diagnostic workflows for inflammatory myopathies. As an unbiased and culture-free pan-pathogenic method, SMg enables the identification of pathogens, including unexpected ones, and can be used in addition to routine procedures for inflammatory myopathy diagnosis.</p>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"69 ","pages":"107458"},"PeriodicalIF":3.5,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149287947","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":"Dual ultrasound detection of facial muscle changes in FSHD1: thickness and echo intensity findings - a cross-sectional comparison with healthy adults.","authors":"Havvanur Albayrak, Ahmet Peker, Gulshan Yunisova, Ayse Nur Ozdag Acarlı, Aysegul Ketenci, Piraye Oflazer","doi":"10.1016/j.nmd.2026.107457","DOIUrl":"https://doi.org/10.1016/j.nmd.2026.107457","url":null,"abstract":"<p><p>Facioscapulohumeral muscular dystrophy is characterized by facial muscle involvement, but objective imaging data are limited. Muscle ultrasound may detect structural changes in facial muscles and serve as a noninvasive biomarker. To compare facial muscle thickness and echo intensity between patients with facioscapulohumeral muscular dystrophy type 1 and healthy controls using muscle ultrasound and to investigate associations with clinical parameters. In this cross-sectional study, 20 patients with genetically confirmed facioscapulohumeral muscular dystrophy type 1 and 19 age- and sex-matched healthy controls underwent bilateral muscle ultrasound assessment of the orbicularis oculi, orbicularis oris, zygomaticus major, and buccinator muscles. Muscle thickness was measured in transverse view, and echo intensity was graded using the adjusted Heckmatt scale. Clinical assessments included the FSHD Clinical Score, Medical Research Council (MRC) Sum Score, and symptom duration. Patients with facioscapulohumeral muscular dystrophy type 1 demonstrated significant alterations in facial muscle architecture, characterized by reduced muscle thickness and increased echogenicity, particularly in the orbicularis oris and buccinator muscles (all p <0.05). Left buccinator thickness showed a moderate negative correlation with symptom duration (r= -0.509, p = 0.022). No significant associations were observed between ultrasound parameters and global clinical scores. Facial ultrasound detected structural changes in FSHD1 that may not be captured by conventional clinical assessments and may serve as a sensitive imaging biomarker.</p>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"69 ","pages":"107457"},"PeriodicalIF":3.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149287934","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":"1.14P COS-PREPARED: clinical outcome study in pre- and early-symptomatic patients with recessive dysferlinopathy - what is the impact of early stage LGMDR2 on function?","authors":"Meredith James,&nbsp;Emma-Jayne Robinson,&nbsp;Emma Grover,&nbsp;Heather Hilsden,&nbsp;Sarah Emmons,&nbsp;Carla Bolano Diaz,&nbsp;Ariele Barreto Haagsma,&nbsp;Heather Gordish Dressman,&nbsp;Ian Wilson,&nbsp;Laura Rufibach,&nbsp;Lisa Alcock,&nbsp;Volker Straub","doi":"10.1016/j.nmd.2026.106534","DOIUrl":"10.1016/j.nmd.2026.106534","url":null,"abstract":"<div><div>COS-PREPARED: The Clinical Outcome Study in PRe- and Early-symptomatic PAtients with REcessive Dysferlinopathy study aims to define the early natural history of dysferlin-deficient limb girdle muscular dystrophy (dysferlinopathy/LGMDR2) to inform recognition, care considerations, and clinical trial design. Five participants with a confirmed diagnosis of LGMDR2 proven by biallelic (predicted) pathogenic variants in the DYSF gene, who were able to stand on tiptoes on both feet and hop, have completed baseline visits. Assessments include functional and patient reported outcome measures, quantitative MRI (T2, Dixon), and gait assessment. Functional outcome measures include North Star Assessment for Limb-girdle type muscular dystrophy (NSAD), 100 metre timed test (100MTT), selected tests from the 1000 Norms project, and subscales of the Bruininks-Oseretsky Test of Motor Proficiency (BOT). Patient reported outcome measures include ACTIVLIM, pain, fatigue and age-appropriate health-related quality of life measures. Several participants report no restrictions in daily life function and weakness not detected during local standard clinical examinations prior to study enrolment. From preliminary data analysis, all participants demonstrate impairments in motor function. The most challenging items from normative tests involved running, jumping and hopping. All subjects demonstrated impairments in the “Running speed and agility and “strength” scales. Four subjects demonstrated no impairment on the BOT balance dimension. NSAD had a median score of 51/54. All participants had running speeds below the 10th centile on the 100MTT. The COS-PrePARED study undertakes essential trial readiness activities for dysferlinopathy. The use of appropriate disease-specific and normative motor tests has captured early deficits in motor function. Identifying early functional indicators, imaging, and other biomarkers will assist in defining a pre-symptomatic phenotype and predict disease trajectories. The COS-PrePARED model could be applied to other neuromuscular diseases.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106534"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071250","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":"1.26eP Alpha-dystroglycan glycosylation in heterozygous FKRP carriers of LGMDR9","authors":"Anne Katrine Kjemsø Jensen,&nbsp;Mads Godtfeldt Stemmerik,&nbsp;Tue Leth Nielsen,&nbsp;John Vissing","doi":"10.1016/j.nmd.2026.106535","DOIUrl":"10.1016/j.nmd.2026.106535","url":null,"abstract":"<div><div>Limb-girdle muscular dystrophy type R9 (LGMDR9) is caused by pathogenic variants in the FKRP gene. FKRP encodes fukutin-related protein (FKRP), which is responsible for glycosylation of alpha-dystroglycan (αDG) and essential for muscle fiber integrity. In patients with biallelic FKRP variants, αDG glycosylation levels are reduced to 5–10% of normal, resulting in progressive muscle weakness and loss of function. Heterozygous carriers of pathogenic FKRP variants remain clinically healthy, but their αDG glycosylation has not been systematically quantified, and the lower threshold of glycosylation compatible with normal muscle function is currently unknown. The aim of this study is to quantify αDG glycosylation in heterozygous FKRP carriers to explore the contribution of the wild-type allele for glycosylation levels, suggesting a lower level of glycosylation compatible with normal muscle function. Participants are healthy relatives of genetically confirmed LGMDR9 patients. We aim to include 30 carriers of the common L276I FKRP variant as well as carriers of more deleterious variants, allowing assessment of a potential range of αDG glycosylation across different variants. Normative data from healthy controls will serve as reference. Muscle biopsies from the tibialis anterior will be obtained and analysed for αDG glycosylation by Western blotting. Blood samples will be collected for confirmatory genetic testing to precisely characterize the underlying FKRP variants unless carrier status is already established through obligate inheritance. Twelve biopsies have been obtained. Results will be presented at the congress. We hypothesize that glycosylation levels in carriers will be higher than in patients but lower than in healthy controls, thereby establishing a functional lower threshold for healthy muscle integrity. These findings will support ongoing clinical trials by establishing benchmarks for therapeutic efficacy and guiding substrate supplementation strategies in LGMDR9.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106535"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071254","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":"1.11P Structured patterns of muscle involvement in CAV3-related myopathy revealed by whole-body CT imaging","authors":"Francia Victoria De Los Reyes,&nbsp;Shinichiro Hayashi,&nbsp;Yoshihiko Saito,&nbsp;Megumu Ogawa,&nbsp;Yasushi Oya,&nbsp;Satoru Noguchi,&nbsp;Ichizo Nishino","doi":"10.1016/j.nmd.2026.106531","DOIUrl":"10.1016/j.nmd.2026.106531","url":null,"abstract":"<div><div>Caveolinopathies caused by CAV3 mutations present with heterogeneous clinical phenotypes ranging from asymptomatic hyperCKemia to limb-girdle–type muscular dystrophy. Although prior imaging studies have described commonly affected muscles, whether a shared and structured progression architecture underlies this phenotypic variability remains unclear. We analyzed whole-body skeletal muscle computed tomography imaging in eight patients with pathogenic or likely pathogenic CAV3 variants, comprising 14 imaging studies, including longitudinal assessments. Fat infiltration across 43 muscles was graded using modified Mercuri scores. Multivariate computational approaches- including principal component analysis, clustering, and pseudotime modeling - were applied to define severity staging and spatial progression patterns. A statistically supported, stage-dependent continuum of muscle involvement was identified, demonstrating ordered progression across imaging timepoints despite clinical heterogeneity. Most patients followed a reproducible limb-girdle–predominant pattern with coordinated progression across muscle groups, supported by multivariate clustering and longitudinal consistency. In contrast, one patient exhibited a distinct compartment-restricted thigh-dominant trajectory characterized by early posterior and medial involvement with relative preservation of other muscle groups. Rectus femoris demonstrated consistent stage-dependent progression, while medial gastrocnemius involvement was associated with advanced severity. Notably, no patients demonstrated overt clinical features indicative of rippling muscle disease. These findings establish a structured, quantitative framework for modeling muscle involvement in CAV3-related myopathy, extending beyond descriptive imaging toward reproducible staging and progression mapping. This approach provides a basis for objective disease monitoring and enables future integration with genotype and molecular pathology to refine phenotypic stratification.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106531"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071442","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":"1.27eP Pathological and transcriptomic comparison of dysferlinopathy and immune-mediated necrotizing myopathy","authors":"Weiyan Hou,&nbsp;Shaojuan Ma,&nbsp;Hongran Wu,&nbsp;Guang Ji,&nbsp;Xueqin Song","doi":"10.1016/j.nmd.2026.106536","DOIUrl":"10.1016/j.nmd.2026.106536","url":null,"abstract":"<div><div>Dysferlinopathy is a hereditary muscular dystrophy caused by pathogenic variants in the DYSF gene. Previous research suggested that dysferlinopathy shared similar pathological features with immune-mediated necrotizing myopathies (IMNMs). However, systematic histopathological and transcriptomic comparisons remain limited. In this study, we conducted a comparative pathological analysis of a cohort of 20 cases with dysferlinopathy and 19 cases with IMNM. Transcriptomic analysis was performed on our dysferlinopathy cohort and a public GEO database (GSE220915) to validate and expand the pathological findings at the molecular level. Systematic pathological analysis revealed increased necrotic and regenerating fibers, MAC deposition and MHC-I expression, and a CD68+ macrophage-dominated microenvironment are common features in both conditions. Notably, MAC/MHC-I positivity rates were higher in IMNM. Comparative transcriptomic analysis revealed significant enrichment of inflammation/immune response, fibrosis, and ECM remodeling pathways in both diseases, with antigen presentation specific to IMNM. CIBERSORT showed M2 macrophage predominance in both diseases, while ssGSEA further revealed broader immune cell infiltration and a more pronounced adaptive immune response in IMNM. Regarding the shared complement deposition feature, GSEA showed classical and alternative pathways enrichment in both diseases, with additional lectin pathway enrichment in IMNM. Importantly, complement-related genes showed strong correlations with M2 macrophage signatures and muscle regeneration markers, and the two diseases shared substantial overlap in differentially expressed cytokines that also highly correlated with complement genes. Overall, despite substantial similarities, dysferlinopathy and IMNM exhibit subtle yet critical differences in complement activation and immune microenvironment, highlighting divergent pathogenic mechanisms between a primarily degenerative and an immune-driven myopathy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106536"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071452","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":"1.01P Four additional families confirm the distinctive clinical, radiological, and genetic features of MAMDC2-related myopathy","authors":"Macarena Cabrera Serrano,&nbsp;Emilia Servian Morilla,&nbsp;Victoria Navarro,&nbsp;Cristina Domínguez-González,&nbsp;Ana Gonçalves,&nbsp;Rosário Santos,&nbsp;Christine C Bruels,&nbsp;Melanie C O'Leary,&nbsp;John C Kincaid,&nbsp;Paloma Martin-Jimenez,&nbsp;Henrique M Costa,&nbsp;Celia Azevedo Soares,&nbsp;Lynn Pais,&nbsp;Vijay Ganesh,&nbsp;Elicia A Estrella,&nbsp;Hart G.W. Lidov,&nbsp;Basil T Darras,&nbsp;Peter B Kang,&nbsp;Gina Ravenscroft,&nbsp;Carmen Paradas","doi":"10.1016/j.nmd.2026.106516","DOIUrl":"10.1016/j.nmd.2026.106516","url":null,"abstract":"<div><div>In 2023, we described a novel autosomal dominant myopathy caused by truncating variants in the last exon of MAMDC2, associated with a distinctive clinical and radiological phenotype, suggesting a critical functional role for the C-terminal region of the protein. No additional cases have been reported in the literature since that initial description. After identifying additional affected families, we assessed the consistency of the previously reported phenotype through detailed clinical, radiological, and genetic characterization. We identified four additional unrelated families, comprising 10 examined affected individuals. Age at onset was homogeneous, ranging from childhood to adolescence. All examined individuals showed proximal weakness involving both upper and lower limbs. Distal upper limb weakness was present in 4/7 examined individuals, involving finger flexors, finger extensors, or both. Truncal flexion/abdominal weakness was identified in 4/6 examined individuals. One patient showed finger flexor contractures. No examined patient had cardiac involvement. Serum CK was mildly to moderately elevated (205–908 U/L). Muscle MRI was performed in three individuals and consistently demonstrated the characteristic subfascial pattern of muscle involvement. WES or WGS identified a truncating variant in the last exon of MAMDC2 in all cases: p.Ser674Ter, p.Tyr677IlefsTer5, p.Tyr677Ter, and p.Glu683Ter. Notably, one variant removes only the last 3 amino acids of the protein. One case was sporadic, and segregation analysis confirmed a de novo event, with absence of the variant in both parents. We report four additional families with MAMDC2-associated myopathy, confirming the distinctive clinical, radiological, and genetic features of this newly recognized disorder. These findings strengthen the genotype–phenotype correlation and support the pathogenic relevance of terminal-exon truncating variants in MAMDC2.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106516"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071699","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":"1.48eP Clinical and genetic characteristics of pediatric hereditary neuropathies: a single-center experience","authors":"Deniz Yüksel,&nbsp;Pınar Saka Ümit,&nbsp;Canan Üstün,&nbsp;Elifcan Taşdelen","doi":"10.1016/j.nmd.2026.106569","DOIUrl":"10.1016/j.nmd.2026.106569","url":null,"abstract":"<div><div>Hereditary neuropathies are rare genetic disorders affecting the peripheral nervous system. This study aimed to evaluate the clinical, and genetic characteristics of pediatric cases. Fifteen patients (8 males, 7 females; mean age 11.5 years) were analyzed. Clinical features, presenting complaints, genetic findings, and functional status were recorded. This study represents a three-year single-center experience in our outpatient clinic. Mean age at onset was 4.5 years (range: 1–10 years). The most common symptoms were toe-walking/gait disturbance (40%) and distal muscle weakness (33.3%). Charcot–Marie–Tooth (CMT) disease accounted for 80% of cases, followed by HSAN (13.3%) and dHSN (6.7%). Genetic testing (86.7%) most frequently revealed PMP22 duplication (26.7%), alongside mutations in TRPV4, KIF1A, FIG4, MYH14, MCM3AP, GDAP1, FAM134B, PRX, and PRPS1. Consanguinity was present in 20%. Common findings included foot deformities (73.3%), hyporeflexia/areflexia (73.3%), and pes cavus (66.7%). At the most recent evaluation, patients’ current functional status was as follows: 33.3% required assisted ambulation, 26.7% had difficulty climbing stairs, 26.7% were independently ambulatory, and 13.3% were non-ambulatory. Comorbidities included epilepsy (n=2), and single cases of multiple sclerosis, optic atrophy, and hearing loss. Pediatric hereditary neuropathies are progressive disorders characterized by early motor symptoms, gait impairment, and loss of reflexes. Early diagnosis combined with thorough evaluation of genetic findings enables the development of optimal follow-up and management strategies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106569"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071708","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":"1.32P Genetic epidemiology of adult-onset hereditary neuropathies in Serbia","authors":"Milica Vukojevic,&nbsp;Ana Marjanovic,&nbsp;Vukan Ivanovic,&nbsp;Jovan Pesovic,&nbsp;Ana Kosac,&nbsp;Ayse Candayan,&nbsp;Milena Jankovic,&nbsp;Dusanka Savic-Pavicevic,&nbsp;Albena Jordanova,&nbsp;Ivana Basta,&nbsp;Stojan Peric","doi":"10.1016/j.nmd.2026.106581","DOIUrl":"10.1016/j.nmd.2026.106581","url":null,"abstract":"<div><div>Hereditary neuropathies are a group of genetically and phenotypically heterogeneous neuropathies. These are classified into: hereditary sensory motor neuropathy (HSMN) aka Charcot-Marie-Tooth disease (CMT), hereditary neuropathy with liability to pressure palsies (HNPP), distal motor neuropathy (dMN), hereditary sensory autonomic neuropathy (HSAN) and polyneuropathy as part of a complex clinical presentation. The aim of this study was to determine final diagnoses in patients referred from the tertiary center in Serbia under suspicion of hereditary neuropathy. This research included 340 patients directed for genetic testing from the Neurology Clinic, University Clinical Center of Serbia during the period from 2009-2023, who underwent complete genetic analyses available. Among the 340 patients, the most prominent group consisted of patients with CMT1A, 93 (27.3%). In the group of patients with axonal form of disease the most prevalent were the ones with pathogenic variant in HINT1 (18 (5.3%)). Nineteen (5.6%) patients have had variants in GJB1 gene and clinical features of CMTX. DMN group was composed of seven (2%) patients. HSAN was final diagnose for 2 (0.6%). Group of 16 (4.7%) patients have had neuropathy as part of a complex clinical presentation. In 70 (20.6%) patients no significant genetic variant was found, not even after whole exome sequencing, even though clinical presentation was highly suggestive for hereditary neuropathy. In line with other populations, CMT1A was the most common cause of hereditary neuropathy in Serbia. The axonal cohort predominantly included patients with variant in HINT1 gene, which represents a population-specific characteristic. A significant number of patients with CMTX was also observed, which is consistent with global data. These findings highlight the importance of targeted genetic analysis in diagnosing hereditary neuropathies in certain population.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"67 ","pages":"Article 106581"},"PeriodicalIF":3.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149071709","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}