Acta Myologica最新文献

{"title":"Emergencies cards for neuromuscular disorders 1^st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.","authors":"Fabrizio Racca,&nbsp;Valeria A Sansone,&nbsp;Federica Ricci,&nbsp;Massimiliano Filosto,&nbsp;Stefania Pedroni,&nbsp;Elena Mazzone,&nbsp;Yaroslava Longhitano,&nbsp;Christian Zanza,&nbsp;Anna Ardissone,&nbsp;Rachele Adorisio,&nbsp;Angela Berardinelli,&nbsp;Claudia Bondone,&nbsp;Chiara Briani,&nbsp;Francesca Cairello,&nbsp;Elena Carraro,&nbsp;Giacomo P Comi,&nbsp;Grazia Crescimanno,&nbsp;Adele D'Amico,&nbsp;Fabio Deiaco,&nbsp;Alessia Fabiano,&nbsp;Francesco Franceschi,&nbsp;Michelangelo Mancuso,&nbsp;Alessandro Massè,&nbsp;Sonia Messina,&nbsp;Tiziana Mongini,&nbsp;Isabella Moroni,&nbsp;Andrea Moscatelli,&nbsp;Olimpia Musumeci,&nbsp;Paolo Navalesi,&nbsp;Gerardo Nigro,&nbsp;Carlo Origo,&nbsp;Chiara Panicucci,&nbsp;Marika Pane,&nbsp;Martino Pavone,&nbsp;Marina Pedemonte,&nbsp;Elena Pegoraro,&nbsp;Marco Piastra,&nbsp;Antonella Pini,&nbsp;Luisa Politano,&nbsp;Stefano Previtali,&nbsp;Fabrizio Rao,&nbsp;Giulia Ricci,&nbsp;Antonio Toscano,&nbsp;Andrea Wolfler,&nbsp;Khristian Zoccola,&nbsp;Cristina Sancricca,&nbsp;Vincenzo Nigro,&nbsp;Antonio Trabacca,&nbsp;Andrea Vianello,&nbsp;Claudio Bruno","doi":"10.36185/2532-1900-081","DOIUrl":"https://doi.org/10.36185/2532-1900-081","url":null,"abstract":"<p><p>Acute hospitalisation may be required to support patients with Neuromuscular disorders (NMDs) mainly experiencing respiratory complications, swallowing difficulties, heart failure, urgent surgical procedures. As NMDs may need specific treatments, they should be ideally managed in specialized hospitals. Nevertheless, if urgent treatment is required, patients with NMD should be managed at the closest hospital site, which may not be a specialized centre where local emergency physicians have the adequate experience to manage these patients. Although NMDs are a group of conditions that can differ in terms of disease onset, progression, severity and involvement of other systems, many recommendations are transversal and apply to the most frequent NMDs. Emergency Cards (EC), which report the most common recommendations on respiratory and cardiac issues and provide indications for drugs/treatments to be used with caution, are actively used in some countries by patients with NMDs. In Italy, there is no consensus on the use of any EC, and a minority of patients adopt it regularly in case of emergency. In April 2022, 50 participants from different centres in Italy met in Milan, Italy, to agree on a minimum set of recommendations for urgent care management which can be extended to the vast majority of NMDs. The aim of the workshop was to agree on the most relevant information and recommendations regarding the main topics related to emergency care of patients with NMD in order to produce specific ECs for the 13 most frequent NMDs.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/d3/am-2022-04-135.PMC9896597.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10808642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy.","authors":"Eleonora Diella,&nbsp;Antonella LoMauro,&nbsp;Morena Delle Fave,&nbsp;Rossella Cima,&nbsp;Maria Grazie D'Angelo","doi":"10.36185/2532-1900-084","DOIUrl":"https://doi.org/10.36185/2532-1900-084","url":null,"abstract":"<p><p>Limb-girdle muscular dystrophy (LGMD) is a genetic muscle disorder causing weakness and wasting of the proximal limb musculature. When ambulation is lost, the attention must be shifted to the upper limb muscles' function. We studied the upper limb muscle strength and the corresponding function in 15 LGMDR1/LGMD2A and 13 LGMDR2/LGMD2B, through the Performance of Upper Limb scale and the MRC score of upper limbs. The proximal item K and the distal items N and R were lower in LGMD2B/R2. The mean MRC score of all the muscles involved linearly correlated (r2 = 0.922) for item K in LGMD2B/R2. The functional worsening paralleled the muscles weakness in LGMD2B/R2. By contrast, at proximal level the function of LGMD2A/R1 was preserved despite muscle weakness was present, presumably due to compensatory strategies. Sometimes the combination of parameters might be more informative than considering them separately. PUL scale and MRC might be interesting outcome measures in non-ambulant patients.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/60/c6/am-2022-04-207.PMC9896594.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10744620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis?","authors":"Sergey N Bardakov,&nbsp;Vadim A Tsargush,&nbsp;Pierre G Carlier,&nbsp;Tran Minh Duc,&nbsp;Andrey Yu Emelin,&nbsp;Alexey Yu Polushin,&nbsp;Alexander A Emelyantsev,&nbsp;Andrey N Belskikh,&nbsp;Ekaterina N Berezhnaya,&nbsp;Sergey V Lapin,&nbsp;Anna N Moshnikova,&nbsp;Roman V Deev","doi":"10.36185/2532-1900-082","DOIUrl":"https://doi.org/10.36185/2532-1900-082","url":null,"abstract":"<p><p>Anti-MuSK myasthenia gravis (Anti-MuSK MG) is a chronic autoimmune disease caused by complement-independent dysfunction of the agrin-MuSK-Lrp4 complex, accompanied by the development of the pathological muscle fatigue and sometimes muscle atrophy. Fatty replacement of the tongue, mimic, masticatory and paravertebral muscles, revealed by muscle MRI and proton magnetic resonance spectroscopy (MRS), is considered to be a consequence of the myogenic process in anti-MuSK antibody MG in the patients with a plenty long course of the disease. However, in most experimental studies on animal models with anti-MuSK MG, complex presynaptic and postsynaptic changes are revealed, accompanied by the functional denervation of masticatory and paravertebral muscles predominantly. This study presents the MRI, nerve conduction studies (NCS), repetitive nerve stimulation (RNS) and electromyography (EMG) of neurogenic lesions of the axial muscles (m. Multifidus Th12, L3-L5; m. Erector spinae L4-L5) in two patients K. (51 years old), and P. (44 years old), both of whom were having weakness of the paravertebral muscles for 2-4 months due to anti-MuSK MG. The clinical manifestations, as well as the edematous changes in the paravertebral muscles, regressed after therapy. Thus, these clinical examples may confirm the presence of the neurogenic changes at an early stage of anti-MuSK myasthenia gravis and indicate importance of immediate initiation of therapy to avoid the development of muscle atrophy and fatty infiltration.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/7d/am-2022-04-178.PMC9896596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10735565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate.","authors":"Giuseppe Accogli,&nbsp;Camilla Ferrante,&nbsp;Isabella Fanizza,&nbsp;Maria Carmela Oliva,&nbsp;Ivana Gallo,&nbsp;Marta De Rinaldis,&nbsp;Antonio Trabacca","doi":"10.36185/2532-1900-083","DOIUrl":"https://doi.org/10.36185/2532-1900-083","url":null,"abstract":"<p><strong>Objective: </strong>Standards of care and new genetic and molecular therapies have contributed to increasing life expectancy of patients with neuromuscular diseases (NMDs). This review presents the clinical evidence for an adequate transition from pediatric to adult care in patients with NMDs considering both physical and psychosocial aspects and attempts at identifying a general pattern of transition in the literature that can be used for all patients with NMDs.</p><p><strong>Method: </strong>A search was performed on PubMed, Embase and Scopus using generic terms that could be referred to the transition construct specifically related to NMDs. A narrative approach was used to summarise the available literature.</p><p><strong>Results: </strong>Our review shows that few or no studies explored the transition process from pediatric to adult care in neuromuscular diseases and tried to identify a general pattern of transition applicable to all NMDs.</p><p><strong>Conclusions: </strong>A transition process taking into consideration physical, psychological, social needs of patient and caregiver could produce positive outcomes. However, there is still no unanimous agreement in the literature on what it consists of and how to achieve an optimal and effective transition.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1a/c4/am-2022-04-188.PMC9896595.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10735561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AUTOMA: a wearable device to assess the upper limb muscular activity in patients with neuromuscular disorders.","authors":"Mario Milazzo,&nbsp;Andrea Spezzaneve,&nbsp;Guja Astrea,&nbsp;Francesca Giorgolo,&nbsp;Alessandro Tonacci,&nbsp;Francesco Sansone,&nbsp;Marco Calderisi","doi":"10.36185/2532-1900-057","DOIUrl":"https://doi.org/10.36185/2532-1900-057","url":null,"abstract":"<p><p>Inherited muscular dystrophies and congenital myopathies present in early childhood with progressive muscle weakness, determining severe motor limitations. Active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The need for repeatable, objective and quantitative measures to monitor the clinical course of the disease is a current issue, particularly in the new era where new flows of therapies are proposed to the patients. In this scenario, we designed and tested a wearable device termed AUTOMA that is able to provide quantification of the muscular impairment in the upper limb upon isokinetic tests through the integration of a force sensor and an electric goniometer. This allows qualitatively estimating the muscular functions with a systematic procedure. We carried out a preliminary pilot study on 9 patients that revealed the suitability of AUTOMA as an objective measurement tool for diagnosing and monitoring neuromuscular disorders, and opens to a more extensive clinical study in which to test and validate our platform intensively.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/30/34/am-2021-04-143.PMC8744014.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39835825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network.","authors":"Guja Astrea,&nbsp;Gemma Marinella,&nbsp;Caterina Agosto,&nbsp;Delia Gagliardi,&nbsp;Marina Grandis,&nbsp;Maria Giuliano,&nbsp;Luisa Politano","doi":"10.36185/2532-1900-060","DOIUrl":"https://doi.org/10.36185/2532-1900-060","url":null,"abstract":"<p><p>The main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted a strategy to create networks with the ambition to break down these distances and to unify the process of care and management. Here we report the results and perspectives of our efforts and studies. A summary of the presentations on the topic, held during the webinars organized for macro-areas by the Italian Association of Myology with the aim of raising awareness among \"non-expert doctors\" who deal with neuromuscular disorders in the era of COVID-19 was collected and here reported. Although the macro-areas responded in different way to the problems of neuromuscular patients in the era of COVID-19, they all have tried to create a network between doctors and opportunity for education and information, with the secondary outcome to have shared process of care and management. Telemedicine, virtual meetings and the strengthening of national and international networks, through research projects, were the nodal and common points. Due to their complexity, neuromuscular diseases had already taught clinicians the importance of multidisciplinary confrontation. COVID-19 has further strengthened the need to create links between clinicians and experts, even of different nationalities, in order to guarantee to patients the best possible care, but above all, access and continuity of care even in critical periods. Adequate answers have been given to these problems, though there is still a lot to improve.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c9/35/am-2021-04-172.PMC8744015.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39696256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.","authors":"Ilaria Bitetti,&nbsp;Cinzia Mautone,&nbsp;Marianna Bertella,&nbsp;Maria Rosaria Manna,&nbsp;Antonio Varone","doi":"10.36185/2532-1900-062","DOIUrl":"https://doi.org/10.36185/2532-1900-062","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety. However, few real-life experience data is available, especially in pediatric age. We report the case of a 2-year- ambulant child affected by DMD caused by the stop-codon mutation c.10801C > T, p.Gln3601X in exon 76, who was early treated with Ataluren at a dosage of 40 mg/kg/die, and presented a rapid improvement in both muscle strength and cognitive and social skills.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/96/am-2021-04-184.PMC8744012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39696258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic resonance imaging pattern variability in dysferlinopathy.","authors":"Sergey N Bardakov,&nbsp;Vadim A Tsargush,&nbsp;Pierre G Carlier,&nbsp;Sergey S Nikitin,&nbsp;Sergey A Kurbatov,&nbsp;Angelina A Titova,&nbsp;Zoya R Umakhanova,&nbsp;Patimat G Akhmedova,&nbsp;Raisat M Magomedova,&nbsp;Igor S Zheleznyak,&nbsp;Alexander A Emelyantsev,&nbsp;Ekaterina N Berezhnaya,&nbsp;Ivan A Yakovlev,&nbsp;Artur A Isaev,&nbsp;Roman V Deev","doi":"10.36185/2532-1900-059","DOIUrl":"https://doi.org/10.36185/2532-1900-059","url":null,"abstract":"<p><p>The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy.</p><p><strong>Materials and methods: </strong>Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immunohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken.</p><p><strong>Results: </strong>Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distinguished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished.</p><p><strong>Conclusions: </strong>Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bb/d9/am-2021-04-158.PMC8744010.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39696255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.","authors":"Amir Dori,&nbsp;Michela Guglieri,&nbsp;Marianna Scutifero,&nbsp;Luigia Passamano,&nbsp;Antonio Trabacca,&nbsp;Luisa Politano","doi":"10.36185/2532-1900-058","DOIUrl":"https://doi.org/10.36185/2532-1900-058","url":null,"abstract":"<p><p>Duchenne's muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by deletions (75%), duplications (15-20%) and point mutations (5-10%) in the dystrophin gene. Among the latter, stop-codon point mutations are rare. Female carriers of dystrophin gene mutations are usually asymptomatic as they are \"protected\" by the second X-chromosome, which produces a normal dystrophin protein. However, about 8-10% of them can present symptoms that set the clinical picture of the manifesting or symptomatic carrier. Although no causative cure there is for DMD, therapies are available to slow the decline of muscle weakness and delay the onset of heart and respiratory involvement. However, there is limited data in the literature documenting the treatment of symptomatic carriers, often entrusted to the sensitivity of individual doctors. In this paper, we report the follow-up outcomes of four European symptomatic nmDMD carriers treated with ataluren, overall followed for 193 months. Annual assessment of muscle strength, pulmonary lung function tests, and echocardiography, indicate a mild attenuation of disease progression under treatment.. There were no adverse clinical effects or relevant abnormalities in routine laboratory tests. We can conclude that ataluren appears to stabilize, if not slightly improve, the clinical course of patients with a good safety profile, especially if we consider that the treatment was late for 3/4 patients, at a mean age of 36.6 ± 10.6 years.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39696254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.","authors":"Gaia Scarpini,&nbsp;Maria Lucia Valentino,&nbsp;Melania Giannotta,&nbsp;Luca Ragni,&nbsp;Annalaura Torella,&nbsp;Marta Columbaro,&nbsp;Vincenzo Nigro,&nbsp;Antonella Pini","doi":"10.36185/2532-1900-061","DOIUrl":"https://doi.org/10.36185/2532-1900-061","url":null,"abstract":"<p><p>Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein that plays an important role in many cellular processes. We report the case of a 16-year-old male who at 4 years of age presented with a hypertrophic obstructive cardiomyopathy, then developed axonal sensory motor polyneuropathy, muscle weakness, rigid spine, severe kyphoscoliosis and respiratory failure. Muscle biopsy showed the typical hallmark of myofibrillar myopathy with abnormal cytoplasmic expression of multiple proteins. Ade novo heterozygous common mutation in the BAG3 gene with a c.626C > T (p.Pro209Leu) was discovered on NGS genetic analysis. Mutations in the BAG3 gene are causes of a severe and progressive condition and natural history data are important to be collected. An early diagnosis is critical for prognostic implications in cardiomyopathy and respiratory failure treatment.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/98/65/am-2021-04-177.PMC8744013.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39696257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}