Pub Date : 2025-04-11DOI: 10.1016/j.nmd.2025.105364
Kathleen Hoffbauer , Jonathan Baets , Willem De Ridder
Chronic sarcoid myopathy is a rare disorder characterized by intramuscular granulomas and generally presents with symmetrical proximal limb-girdle muscle weakness. Here, we present an atypical case of a 68-year-old male with a history of pulmonary sarcoidosis with strikingly asymmetric limb-girdle weakness, progressive >20 years, including periscapular, paraspinal, lower limb and subtle facial involvement, mimicking facioscapulohumeral muscular dystrophy. MR images revealed a striking asymmetric pattern of patchy muscle involvement of paraspinal, lower limb and right periscapular muscles without marked muscle oedema. Although a genetic myopathy was suspected, genetic testing for facioscapulohumeral muscular dystrophy (FSHD1/2) as well as whole exome sequencing remained negative. Muscle biopsy revealed myopathic features and widespread granulomatous inflammatory infiltrates without signs orienting towards a concomitant muscular dystrophy or inclusion body myositis. This case demonstrates that chronic sarcoid myopathy can present with a very slowly progressive, highly selective asymmetrical, multifocal pattern of muscle involvement.
{"title":"Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report","authors":"Kathleen Hoffbauer , Jonathan Baets , Willem De Ridder","doi":"10.1016/j.nmd.2025.105364","DOIUrl":"10.1016/j.nmd.2025.105364","url":null,"abstract":"<div><div>Chronic sarcoid myopathy is a rare disorder characterized by intramuscular granulomas and generally presents with symmetrical proximal limb-girdle muscle weakness. Here, we present an atypical case of a 68-year-old male with a history of pulmonary sarcoidosis with strikingly asymmetric limb-girdle weakness, progressive >20 years, including periscapular, paraspinal, lower limb and subtle facial involvement, mimicking facioscapulohumeral muscular dystrophy. MR images revealed a striking asymmetric pattern of patchy muscle involvement of paraspinal, lower limb and right periscapular muscles without marked muscle oedema. Although a genetic myopathy was suspected, genetic testing for facioscapulohumeral muscular dystrophy (FSHD1/2) as well as whole exome sequencing remained negative. Muscle biopsy revealed myopathic features and widespread granulomatous inflammatory infiltrates without signs orienting towards a concomitant muscular dystrophy or inclusion body myositis. This case demonstrates that chronic sarcoid myopathy can present with a very slowly progressive, highly selective asymmetrical, multifocal pattern of muscle involvement.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105364"},"PeriodicalIF":2.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143847295","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}
Pub Date : 2025-04-01DOI: 10.1016/S0960-8966(25)00086-0
{"title":"WMS CONGRESS TEXT page edits for April 2025","authors":"","doi":"10.1016/S0960-8966(25)00086-0","DOIUrl":"10.1016/S0960-8966(25)00086-0","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105359"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842560","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}
Pub Date : 2025-04-01DOI: 10.1016/j.nmd.2025.105318
Eric Lukas Voorn , Alejandro Lucia , John Vissing , 281st ENMC workshop study group
The 281st ENMC workshop on exercise in muscle diseases was held on October 4–6, 2024. The workshop study group included people with lived experience, healthcare professionals and researchers from different disciplines. To facilitate improved application of exercise in daily practice, this workshop aimed to reach a consensus on recommendations for exercise prescription and outcome measures. There were sessions on 1) scientific evidence on exercise prescription and current practice (based on international online surveys of people with muscle diseases and healthcare professionals), 2) outcome measures, and 3) long-term continuation of exercise. Based on the scientific evidence, survey results and group discussions during the workshop sessions, a strong consensus (all attendees agreed) was reached that personalized exercise is safe and beneficial for people with muscle diseases and is recommended. Recommendations were formulated for the frequency, intensity, time, and type of aerobic and resistance exercise, as well as potential outcome measures for future studies.
{"title":"281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024","authors":"Eric Lukas Voorn , Alejandro Lucia , John Vissing , 281st ENMC workshop study group","doi":"10.1016/j.nmd.2025.105318","DOIUrl":"10.1016/j.nmd.2025.105318","url":null,"abstract":"<div><div>The 281st ENMC workshop on exercise in muscle diseases was held on October 4–6, 2024. The workshop study group included people with lived experience, healthcare professionals and researchers from different disciplines. To facilitate improved application of exercise in daily practice, this workshop aimed to reach a consensus on recommendations for exercise prescription and outcome measures. There were sessions on 1) scientific evidence on exercise prescription and current practice (based on international online surveys of people with muscle diseases and healthcare professionals), 2) outcome measures, and 3) long-term continuation of exercise. Based on the scientific evidence, survey results and group discussions during the workshop sessions, a strong consensus (all attendees agreed) was reached that personalized exercise is safe and beneficial for people with muscle diseases and is recommended. Recommendations were formulated for the frequency, intensity, time, and type of aerobic and resistance exercise, as well as potential outcome measures for future studies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105318"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748474","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}
Pub Date : 2025-03-30DOI: 10.1016/j.nmd.2025.105344
Nick Kruijt , Pascal Laforet , John Vissing , Salman Bhai , Mads Godtfeldt Stemmerik , Felix Kleefeld , Nicol C. Voermans
The 276th ENMC Workshop on rhabdomyolysis brought together 21 experts to address the compelling need for standardized guidelines on the clinical approach of rhabdomyolysis. There was a general agreement that a diagnosis of rhabdomyolysis require that 1) clinical symptoms include severe muscle swelling, weakness and/or myalgia; 2) serum CK-levels exceed 10,000 IU/L in case of exertional, and >5000 IU/L in non-exertional rhabdomyolysis; 3) CK-levels reaching a maximum 1–4 days after the event and normalizing to baseline within 1–2 weeks of rest. In case of an underlying neuromuscular condition, CK-levels should exceed 5–10 times the patient's baseline level. Treatment should be initiated only in case of high risk on acute kidney injury, which can be predicted by the McMahon score. Furthermore, recommendations on performing genetic testing were formulated and the use of the ‘RHABDO’- acronym was generally agreed upon as a tool to aid clinicians in deciding which patients require genetic testing. Moreover, recommendations on follow-up were made, with a particular emphasis on evaluation of physical and psychological sequelae. Patient representatives present during the workshop emphasized the importance of the current recommendations for future clinical guidelines on rhabdomyolysis.
{"title":"276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands","authors":"Nick Kruijt , Pascal Laforet , John Vissing , Salman Bhai , Mads Godtfeldt Stemmerik , Felix Kleefeld , Nicol C. Voermans","doi":"10.1016/j.nmd.2025.105344","DOIUrl":"10.1016/j.nmd.2025.105344","url":null,"abstract":"<div><div>The 276th ENMC Workshop on rhabdomyolysis brought together 21 experts to address the compelling need for standardized guidelines on the clinical approach of rhabdomyolysis. There was a general agreement that a diagnosis of rhabdomyolysis require that <strong>1)</strong> clinical symptoms include severe muscle swelling, weakness and/or myalgia; <strong>2)</strong> serum CK-levels exceed 10,000 IU/L in case of exertional, and >5000 IU/L in non-exertional rhabdomyolysis; <strong>3)</strong> CK-levels reaching a maximum 1–4 days after the event and normalizing to baseline within 1–2 weeks of rest. In case of an underlying neuromuscular condition, CK-levels should exceed 5–10 times the patient's baseline level. Treatment should be initiated only in case of high risk on acute kidney injury, which can be predicted by the McMahon score. Furthermore, recommendations on performing genetic testing were formulated and the use of the ‘RHABDO’- acronym was generally agreed upon as a tool to aid clinicians in deciding which patients require genetic testing. Moreover, recommendations on follow-up were made, with a particular emphasis on evaluation of physical and psychological sequelae. Patient representatives present during the workshop emphasized the importance of the current recommendations for future clinical guidelines on rhabdomyolysis.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105344"},"PeriodicalIF":2.7,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143821333","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}
The Japanese patient registry for facioscapulohumeral muscular dystrophy (FSHD) was launched in September 2020, enrolling patients genetically confirmed to have FSHD. This study aimed to analyze clinical and genetic characteristics based on data from the Japanese FSHD registry. Core items were collected from the TREAT-NMD FSHD dataset, version 1.0. By the end of June 2024, over 200 patients were enrolled, with 161 successfully registered after confirmation. Among them, 156 had FSHD1 and 5 had FSHD2; 81 had affected family members; 116 were ambulatory; 73 had respiratory dysfunction; 22 required mechanical ventilation; 8 had cardiac dysfunction; 4 had retinopathy; and 22 had hearing loss. In patients with FSHD1, the median number of D4Z4 repeats was four, with a low proportion of long repeats. D4Z4 repeat counts influenced age at disease onset, site-specific muscle weakness onset, respiratory function, retinopathy, and hearing loss. Notably, female patients were more likely to have early facial weakness and hearing loss. Our data suggest population diversity in D4Z4 repeat numbers and sex differences. We aim to collaborate with patient groups to enroll more participants and gather more accurate epidemiological data, including cases of FSHD2. Additionally, we plan to investigate racial differences through international collaboration.
{"title":"Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis","authors":"Tsuyoshi Matsumura , Hiroya Hashimoto , Hotake Takizawa , Wakako Yoshioka , Madoka Mori-Yoshimura , Yoshihiko Saito , Ichizo Nishino , Harumasa Nakamura","doi":"10.1016/j.nmd.2025.105346","DOIUrl":"10.1016/j.nmd.2025.105346","url":null,"abstract":"<div><div>The Japanese patient registry for facioscapulohumeral muscular dystrophy (FSHD) was launched in September 2020, enrolling patients genetically confirmed to have FSHD. This study aimed to analyze clinical and genetic characteristics based on data from the Japanese FSHD registry. Core items were collected from the TREAT-NMD FSHD dataset, version 1.0. By the end of June 2024, over 200 patients were enrolled, with 161 successfully registered after confirmation. Among them, 156 had FSHD1 and 5 had FSHD2; 81 had affected family members; 116 were ambulatory; 73 had respiratory dysfunction; 22 required mechanical ventilation; 8 had cardiac dysfunction; 4 had retinopathy; and 22 had hearing loss. In patients with FSHD1, the median number of D4Z4 repeats was four, with a low proportion of long repeats. D4Z4 repeat counts influenced age at disease onset, site-specific muscle weakness onset, respiratory function, retinopathy, and hearing loss. Notably, female patients were more likely to have early facial weakness and hearing loss. Our data suggest population diversity in D4Z4 repeat numbers and sex differences. We aim to collaborate with patient groups to enroll more participants and gather more accurate epidemiological data, including cases of FSHD2. Additionally, we plan to investigate racial differences through international collaboration.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105346"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799861","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}
Pub Date : 2025-03-28DOI: 10.1016/j.nmd.2025.105339
Paula Onofre-Oliveira , Linda Groom , Chen Liang , Belinda Cowling , Mohammad M. Ghahramani-Seno , Robert T. Dirksen , James J. Dowling
RYR1 congenital myopathies, due to pathogenic variants in the RYR1 gene, are the most common subtype of nondystrophic myopathy. At present, there are no therapies for this condition. RYR1 myopathies share features with centronuclear myopathy (CNM), as RYR1 dysfunction is an important common pathologic endpoint of these conditions. Knockdown of dynamin 2 (DNM2) using an antisense oligonucleotide based strategy has shown efficacy in mouse models of CNM, including restoration of RYR1 function. Based on this, we sought to test whether Dnm2 knockdown could also ameliorate the phenotype of a mouse model of recessive RYR1 congenital myopathy, which exhibits a marked reduction in Ryr1 expression and function. To accomplish this, we administered an antisense oligonucleotide (ASO) targeting Dnm2 RNA or a scrambled ASO to a mouse model of the disease, and then measured the impact on multiple functional and pathologic endpoints. While we successfully achieved Dnm2 RNA knockdown with this treatment, no benefit was observed in any parameters measured. We thus conclude that lowering DNM2 transcript levels are unlikely to be a promising strategy for treating RYR1 congenital myopathy.
{"title":"Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy","authors":"Paula Onofre-Oliveira , Linda Groom , Chen Liang , Belinda Cowling , Mohammad M. Ghahramani-Seno , Robert T. Dirksen , James J. Dowling","doi":"10.1016/j.nmd.2025.105339","DOIUrl":"10.1016/j.nmd.2025.105339","url":null,"abstract":"<div><div>RYR1 congenital myopathies, due to pathogenic variants in the <em>RYR1</em> gene, are the most common subtype of nondystrophic myopathy. At present, there are no therapies for this condition. RYR1 myopathies share features with centronuclear myopathy (CNM), as RYR1 dysfunction is an important common pathologic endpoint of these conditions. Knockdown of dynamin 2 (DNM2) using an antisense oligonucleotide based strategy has shown efficacy in mouse models of CNM, including restoration of RYR1 function. Based on this, we sought to test whether Dnm2 knockdown could also ameliorate the phenotype of a mouse model of recessive RYR1 congenital myopathy, which exhibits a marked reduction in <em>Ryr1</em> expression and function. To accomplish this, we administered an antisense oligonucleotide (ASO) targeting Dnm2 RNA or a scrambled ASO to a mouse model of the disease, and then measured the impact on multiple functional and pathologic endpoints. While we successfully achieved Dnm2 RNA knockdown with this treatment, no benefit was observed in any parameters measured. We thus conclude that lowering DNM2 transcript levels are unlikely to be a promising strategy for treating RYR1 congenital myopathy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105339"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864942","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}
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