Acta Myologica最新文献

{"title":"Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations.","authors":"Anna Annunziata,&nbsp;Tullio Valente,&nbsp;Rosa Cauteruccio,&nbsp;Giuseppe Fiorentino","doi":"10.36185/2532-1900-019","DOIUrl":"https://doi.org/10.36185/2532-1900-019","url":null,"abstract":"<p><p>We describe two cases of patients with Steinert's dystrophy or myotonic dystrophy type 1 (DM1) who presented with frequent respiratory exacerbations and pneumonia. They did not report any risk factors for asthma, allergy, bronchopathy or dysphagia in their history. The Videofluoroscopic swallow study test allowed to highlight post-swallowing aspiration phenomena responsible for respiratory exacerbations.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 3","pages":"141-143"},"PeriodicalIF":0.0,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/da/28/am-2020-03-141.PMC7711324.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38361268","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":"Endocrine myopathies: clinical and histopathological features of the major forms.","authors":"Carmelo Rodolico,&nbsp;Carmen Bonanno,&nbsp;Alessia Pugliese,&nbsp;Giulia Nicocia,&nbsp;Salvatore Benvenga,&nbsp;Antonio Toscano","doi":"10.36185/2532-1900-017","DOIUrl":"https://doi.org/10.36185/2532-1900-017","url":null,"abstract":"<p><p>Endocrinopathies, such as thyroid and parathyroid diseases, disorders of the adrenal axis, and acromegaly are included among the many causes of myopathy. Muscle disturbances caused by endocrine disorders are mainly due to alterations in the protein and carbohydrate metabolisms. Either a deficiency or excess of hormones produced by the glands can cause muscle dysfunction that can be reversed by starting hormone replacement therapy or acting on hormone dysfunction. The diagnosis is usually easy if a muscle disorder occurs in an overt endocrinopathy; however, in few patients, myopathy could be the first manifestation of the underlying endocrinopathy. In this article we discuss pathophysiology, clinical features and management of muscle involvement related to the major endocrine diseases.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 3","pages":"130-135"},"PeriodicalIF":0.0,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/31/am-2020-03-130.PMC7711326.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38360888","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":"MPV promote adherence to nocturnal NIV in a Duchenne patient.","authors":"Anna Annunziata,&nbsp;Antonietta Coppola,&nbsp;Antonella Marotta,&nbsp;Giuseppe Fiorentino","doi":"10.36185/2532-1900-014","DOIUrl":"https://doi.org/10.36185/2532-1900-014","url":null,"abstract":"<p><p>We described a case of a patient 20 years old, affected by Duchenne dystrophy with obstructive sleep apnoea syndrome and severe nocturnal desaturation. He was not compliant to non-invasive ventilation (NIV) for claustrophobia and panic attacks. Mouthpiece ventilation was successfully used in this patient, who later accepted the nighttime NIV.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"101-104"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ed/c4/am-2020-02-101.PMC7460732.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38361219","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":"Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in <i>TK2</i> gene.","authors":"George K Papadimas,&nbsp;Efthimia Vargiami,&nbsp;Pinelopi Dragoumi,&nbsp;Rudy Van Coster,&nbsp;Joel Smet,&nbsp;Sara Seneca,&nbsp;Constantinos Papadopoulos,&nbsp;Evangelia Kararizou,&nbsp;Dimitrios Zafeiriou","doi":"10.36185/2532-1900-012","DOIUrl":"https://doi.org/10.36185/2532-1900-012","url":null,"abstract":"<p><p>The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in <i>TK2</i> gene have been described so far. We describe the case of a 14months boy with the aforementioned <i>TK2</i> gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of <i>TK2</i> mutations associated with MDDS.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"94-97"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/3d/am-2020-02-94.PMC7460728.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38359016","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":"Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.","authors":"Francesca Magri,&nbsp;Roberta Brusa,&nbsp;Luca Bello,&nbsp;Lorenzo Peverelli,&nbsp;Roberto Del Bo,&nbsp;Alessandra Govoni,&nbsp;Claudia Cinnante,&nbsp;Irene Colombo,&nbsp;Francesco Fortunato,&nbsp;Roberto Tironi,&nbsp;Stefania Corti,&nbsp;Nadia Grimoldi,&nbsp;Monica Sciacco,&nbsp;Nereo Bresolin,&nbsp;Elena Pegoraro,&nbsp;Maurizio Moggio,&nbsp;Giacomo Pietro Comi","doi":"10.36185/2532-1900-009","DOIUrl":"https://doi.org/10.36185/2532-1900-009","url":null,"abstract":"<p><p>Mutations in <i>LAMA2</i> gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Magnetic Resonance Imaging (MRI). Recently, <i>LAMA2</i> mutations have been acknowledged as responsible of LGMD R23, despite only few cases with slowly progressive adult-onset and partial merosin deficiency have been reported. We describe 5 independent Italian subjects presenting with progressive limb girdle muscular weakness, brain white matter abnormalities, merosin deficiency and <i>LAMA2</i> gene mutations. We detected 7 different mutations, 6 of which are new. All patients showed normal psicomotor development and slowly progressive weakness with onset spanning from childhood to forties. Creatin-kinase levels were moderately elevated. One patient showed dilated cardiomyopathy. Muscle MRI allowed to evaluate the degree and pattern of muscular involvement in all patients. Brain MRI was fundamental in order to address and/or support the molecular diagnosis, showing typical widespread white matter hyperintensity in T2-weighted sequences. Interestingly these alterations were associated with central nervous system involvement in 3 patients who presented epilepsy and migraine. Muscle biopsy commonly but not necessarily revealed dystrophic features. Western-blot was usually more accurate than immunohystochemical analysis in detecting merosin deficiency. The description of these cases further enlarges the clinical spectrum of <i>LAMA2</i>-related disorders. Moreover, it supports the inclusion of LGMD R23 in the new classification of LGMD. The central nervous system involvement was fundamental to address the diagnosis and should be always included in the diagnostic work-up of undiagnosed LGMD.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"67-82"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/b8/am-2020-02-67.PMC7460730.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38360927","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":"Respiratory muscle involvement in <i>HNRNPDL</i> LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.","authors":"Edoardo Malfatti,&nbsp;Denise Cassandrini,&nbsp;Anna Rubegni,&nbsp;Filippo M Sartorelli,&nbsp;Marcello Villanova","doi":"10.36185/2532-1900-013","DOIUrl":"https://doi.org/10.36185/2532-1900-013","url":null,"abstract":"<p><p>Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. <i>HNRNPDL</i>-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the <i>HNRNPDL</i> gene.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"98-100"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/4c/am-2020-02-98.PMC7460734.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38360913","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":"Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.","authors":"Teresa Kruse,&nbsp;Raoul Heller,&nbsp;Brunhilde Wirth,&nbsp;Julia Glöggler,&nbsp;Claudia D Wurster,&nbsp;Albert C Ludolph,&nbsp;Bert Braumann","doi":"10.36185/2532-1900-010","DOIUrl":"https://doi.org/10.36185/2532-1900-010","url":null,"abstract":"<p><strong>Objectives: </strong>Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the antisense oligonucleotide nusinersen highlights the need for reliable clinical tools to evaluate motor function in patients with neuromuscular disorders. Measurement of the bulbar neuromuscular function (e.g., bite force) could be an extension to existing motor scales, sensitive to more nuanced changes, especially in symptomatic patients with severely reduced functional abilities.</p><p><strong>Materials and methods: </strong>Maximum bite force measurement was used to quantify changes of the masticatory function in adult monozygotic female twins with SMA type II. Using piezoelectric transducers, 550 observations were recorded for each patient during the first year of nusinersen therapy.</p><p><strong>Results: </strong>During the application of four loading doses of nusinersen, bite force levels steadily increased and reached a statistically significantly higher level compared to the initial state in both patients. Subsequent maintenance doses coincided with smaller or no statistically significant changes in maximum bite force.</p><p><strong>Conclusions: </strong>This pilot study indicates that the measurement of maximum bite force may be a useful tool to detect changes of the bulbar function in SMA patients. As such, it may supplement existing scales to identify treatment-related changes in motor function.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"83-89"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e0/90/am-2020-02-83.PMC7460731.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38457618","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":"Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.","authors":"Eleonora Mauri,&nbsp;Elena Abati,&nbsp;Olimpia Musumeci,&nbsp;Carmelo Rodolico,&nbsp;Maria Grazia D'Angelo,&nbsp;Massimiliano Mirabella,&nbsp;Matteo Lucchini,&nbsp;Luca Bello,&nbsp;Elena Pegoraro,&nbsp;Lorenzo Maggi,&nbsp;Letizia Manneschi,&nbsp;Chiara Gemelli,&nbsp;Marina Grandis,&nbsp;Angela Zuppa,&nbsp;Sara Massucco,&nbsp;Luana Benedetti,&nbsp;Claudia Caponnetto,&nbsp;Angelo Schenone,&nbsp;Alessandro Prelle,&nbsp;Stefano C Previtali,&nbsp;Marina Scarlato,&nbsp;Adele D'Amico,&nbsp;Enrico Bertini,&nbsp;Elena M Pennisi,&nbsp;Laura De Giglio,&nbsp;Marika Pane,&nbsp;Eugenio Mercuri,&nbsp;Tiziana Mongini,&nbsp;Federica Ricci,&nbsp;Angela Berardinelli,&nbsp;Guja Astrea,&nbsp;Sara Lenzi,&nbsp;Roberta Battini,&nbsp;Giulia Ricci,&nbsp;Francesca Torri,&nbsp;Gabriele Siciliano,&nbsp;Filippo M Santorelli,&nbsp;Alessandra Ariatti,&nbsp;Massimiliano Filosto,&nbsp;Luigia Passamano,&nbsp;Luisa Politano,&nbsp;Marianna Scutifero,&nbsp;Paola Tonin,&nbsp;Barbara Fossati,&nbsp;Chiara Panicucci,&nbsp;Claudio Bruno,&nbsp;Sabrina Ravaglia,&nbsp;Mauro Monforte,&nbsp;Giorgio Tasca,&nbsp;Enzo Ricci,&nbsp;Antonio Petrucci,&nbsp;Lucio Santoro,&nbsp;Lucia Ruggiero,&nbsp;Andrea Barp,&nbsp;Emilio Albamonte,&nbsp;Valeria Sansone,&nbsp;Delia Gagliardi,&nbsp;Gianluca Costamagna,&nbsp;Alessandra Govoni,&nbsp;Francesca Magri,&nbsp;Roberta Brusa,&nbsp;Daniele Velardo,&nbsp;Megi Meneri,&nbsp;Monica Sciacco,&nbsp;Stefania Corti,&nbsp;Nereo Bresolin,&nbsp;Isabella Moroni,&nbsp;Sonia Messina,&nbsp;Antonio Di Muzio,&nbsp;Vincenzo Nigro,&nbsp;Rocco Liguori,&nbsp;Giovanni Antonini,&nbsp;Antonio Toscano,&nbsp;Carlo Minetti,&nbsp;Giacomo Pietro Comi","doi":"10.36185/2532-1900-008","DOIUrl":"https://doi.org/10.36185/2532-1900-008","url":null,"abstract":"<p><strong>Introduction: </strong>Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the \"lockdown\". The Italian Association of Myology developed a survey to estimate the impact of these changes on patients affected by neuromuscular disorders and on specialized neuromuscular centers during the acute phase of COVID-19 pandemic.</p><p><strong>Methods: </strong>We developed an electronic survey that was sent to neuromuscular centers affiliated with the Italian Association of Myology, assessing changes in pharmacological therapies provision, outpatient clinical and instrumental services, support services (physiotherapy, nursing care, psychological support) and clinical trials.</p><p><strong>Results: </strong>40% of surveyed neuromuscular centers reported a reduction in outpatient visit and examinations (44.5% of centers in Northern regions; 25% of centers in Central regions; 50% of centers in Southern regions). Twenty-two% of centers postponed in-hospital administration of therapies for neuromuscular diseases (23.4% in Northern regions; 13.0% in Central regions; 20% in Southern regions). Diagnostic and support services (physiotherapy, nursing care, psychological support) were suspended in 57% of centers (66/43/44% in Northern, Central and Southern centers respectively) Overall, the most affected services were rehabilitative services and on-site outpatient visits, which were suspended in 93% of centers. Strategies adopted by neuromuscular centers to overcome these changes included maintaining urgent on-site visits, addressing patients to available services and promoting remote contact and telemedicine.</p><p><strong>Conclusions: </strong>Overall, COVID-19 pandemic resulted in a significant disruption of clinical and support services for patients with neuromuscular diseases. Despite the efforts to provide telemedicine consults to patients, this option could be promoted and improved further. A close collaboration between the different neuromuscular centers and service providers as well as further implementation of telehealth platforms are necessary to ensure quality care to NMD patients in the near future and in case of recurrent pandemic waves.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"57-66"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/78/4b/am-2020-02-57.PMC7460733.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38360144","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":"Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1.","authors":"Alberto Palladino,&nbsp;Maddalena De Bernardo,&nbsp;Marianna Scutifero,&nbsp;Michele Lanza,&nbsp;Silvio De Querquis,&nbsp;Nicola Rosa,&nbsp;Luisa Politano","doi":"10.36185/2532-1900-011","DOIUrl":"https://doi.org/10.36185/2532-1900-011","url":null,"abstract":"<p><p>Myotonic dystrophy (DM1) is the most common muscle disease in adults, affecting approximately 1:8000 individuals, characterized by myotonia and muscular wasting and a multisystemic involvement that includes heart, brain, respiratory and endocrine system, and eye. Conduction system is selectively involved, often causing cardiac sudden death. Early onset posterior subcapsular cataract is a characteristic feature of myotonic dystrophy, requiring surgical treatment. However, DM1 is associated with many anesthetic hazards; sensitivity to anesthetic drugs, especially muscle relaxants and opioids, may complicate postoperative care. Local anesthesia also requires attention. We investigated the heart response to local anesthesia Ropivacaine Hcl administration in 16 DM1 patients (12M:4F) consecutively undergoing cataract surgery, by analyzing heart rate, ventricular and supraventricular ectopic beats, runs of tachycardia and pauses ≥ 2.5 sec., through a 24h-Holter monitoring, registered before and within 24 hours after surgery. The average age of patients was 47.4 years (range 30.2-55.9). At baseline, one patient had a pacemaker and 3 a defibrillator. Two patients presented a first-degree atrio-ventricular-block; three showed ectopic ventricular beats, on anti-arrhythmic drug treatment. No significant differences in heart rate values (73 ± 15b/m <i>versus</i> 76 ± 13b/m) were observed after cataract surgery, nor in the onset of ectopic beats. Only patients who presented ventricular ectopic beats at baseline, showed an increase in their number after surgery, likely related to an arbitrary interruption of the specific treatment. These data confirm the safety and efficacy of ropivacaine HCl used as a local anesthetic in patients with myotonic dystrophy.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 2","pages":"90-93"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2d/26/am-2020-02-90.PMC7460729.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38457622","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":"Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report.","authors":"Rosa Iodice,&nbsp;Lorenzo Ugga,&nbsp;Francesco Aruta,&nbsp;Aniello Iovino,&nbsp;Lucia Ruggiero","doi":"10.36185/2532-1900-005","DOIUrl":"https://doi.org/10.36185/2532-1900-005","url":null,"abstract":"<p><p>Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a syndromic form. Anecdotally the association of FSHD with multiple sclerosis (MS) is reported. Herein we report a 33 years old Caucasian with a molecular diagnosis of FSHD1 with classical phenotype (clinical category A2) and concomitant white matter lesions suggestive of MS. White matter lesions in patients with FSHD have often been described but rarely investigated in order to evaluate a possible diagnosis of MS. We think that MS and FSHD remain clearly distinct diseases, but growing evidences show a widespread and variable activation of the immune system in patients suffering from FSHD probably an hypotheses on a potential common pathogenetic mechanism between these two disorders could should be better investigated.</p>","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"39 1","pages":"29-31"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c2/ce/am-2020-01-29.PMC7315893.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38104399","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}