Patricia Blanco-Arias, Inmaculada Medina Martínez, Luisa Arrabal Fernández, Eloy Rivas Infante, Maria Jose Salmerón Fernández, Catalina González Hervás, Pilar Azcón González de Aguilar, Lluis Armengol, Susana Pedrinaci, Francesca Perin
X-linked myopathy with excessive autophagy is a rare inherited disease characterized by aberrant accumulation of autophagic vacuoles in skeletal muscle. Affected males usually show a slow progression and the heart is characteristically spared. We present four male patients from the same family with an extremely aggressive form of this disease, requiring permanent mechanical ventilation from birth. Ambulation was never achieved. Three died, one in the first hour of life, one at 7 years and one at 17 years, the last death being a consequence of heart failure...
May 23, 2023: Neuromuscular Disorders: NMD
Anna M Reelfs, Carrie M Stephan, Shelley R H Mockler, Katie M Laubscher, M Bridget Zimmerman, Katherine D Mathews
Pain is prevalent in individuals with limb-girdle muscular dystrophy (LGMD) R9, but impact on daily living and correlation with fatigue remain unknown. Patient-Reported Outcomes Measurement Information System (PROMIS) pain interference and fatigue short forms were completed annually by 23 children and 54 adults with biallelic fukutin-related protein (FKRP) variants for up to six years. Concurrent motor and pulmonary function were evaluated. Pain interference T-scores were near the normal mean of 50 by linear mixed model analysis (48...
May 19, 2023: Neuromuscular Disorders: NMD
Patra Yeetong, Pimchanok Kulsirichawaroj, Theerawat Kumutpongpanich, Chalurmpon Srichomthong, Phichittra Od-Ek, Supphakorn Rakwongkhachon, Titaporn Thamcharoenvipas, Oranee Sanmaneechai, Monnat Pongpanich, Vorasuk Shotelersuk
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder caused by abnormal expression of the DUX4 protein, commonly resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are typically required to silence DUX4 expression. Consequently, molecular diagnosis of FSHD is challenging. We used Oxford Nanopore technology to perform whole-genome sequencing of seven unrelated patients with FSHD, their six unaffected parents, and 10 unaffected controls...
May 13, 2023: Neuromuscular Disorders: NMD
Kristina Gutschmidt, Corinna Wirner-Piotrowski, Natalia García Angarita, Federica Montagnese, Benedikt Schoser, Stephan Wenninger
Chronic hypoventilation due to involvement of respiratory muscles is a frequent symptom in autosomal dominant inherited myotonic dystrophies, especially in type 1 (DM1), leading to a severely reduced quality of life, an early need for ventilatory support, or premature death. Thus, early knowledge of respiratory muscle weakness is essential to initiate further diagnostic and therapeutic measures. To get early, simple, and reliable information about respiratory impairment in DM patients, we performed a prospective controlled cohort study with DM1 and DM2 patients analysing the suitability of 'Respiratory involvement symptom checklist (Respicheck) as a clinically meaningful screening questionnaire for ventilatory impairment in patients with DM1 or DM2...
May 12, 2023: Neuromuscular Disorders: NMD
Lucia Ronco, Sonia Khirani, Meryl Vedrenne-Cloquet, Remi Barrois, Christine Barnerias, Isabelle Desguerre, Elisabetta Bignamini, Brigitte Fauroux
There are no validated criteria to initiate noninvasive ventilation (NIV) in children and young adults with neuromuscular disease (NMD). In order to analyze NIV initiation criteria, we reviewed the polysomnography (PSG) criteria that led to the initiation of NIV in 61 consecutive patients with NMD, median age 4.1 (0.8-21) years, who had a PSG during their routine care. NIV was initiated on abnormal PSG data (apnea-hypopnea index (AHI) > 10 events/h and/or a transcutaneous carbon dioxide pressure > 50 mmHg and/or a pulse oximetry 〈 90%, both during at least 2% sleep time or 〉 5 consecutive minutes) in 11 (18%) patients...
May 5, 2023: Neuromuscular Disorders: NMD
Willem De Ridder, Geert de Vries, Kristof Van Schil, Tine Deconinck, Vincent Mouly, Volker Straub, Jonathan Baets
Recessive pathogenic variants in POPDC3 have recently been associated with the rare limb-girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a distantly related individual with a skeletal muscle disorder, harboring the c.486-6T>A splice site variant in POPDC3 in homozygosity. Immunohistochemistry, western blot, and mRNA experiments on patients' skeletal muscle tissue as well as on patients' myoblasts were performed to study the pathogenicity of the predicted loss of function mechanism of the variant...
May 2023: Neuromuscular Disorders: NMD
Federica Montagnese, Katy de Valle, Richard J L F Lemmers, Karlien Mul, Julie Dumonceaux, Nicol Voermans
No abstract text is available yet for this article.
May 2023: Neuromuscular Disorders: NMD
Joost Kools, Willem Aerts, Erik H Niks, Karlien Mul, Lisa Pagan, Jake S F Maurits, Renée Thewissen, Baziel G van Engelen, Nicol C Voermans
Muscle biopsies are used in clinical trials to measure target engagement of the investigational product. With many upcoming therapies for patients with facioscapulohumeral dystrophy (FSHD), the frequency of biopsies in FSHD patients is expected to increase. Muscle biopsies were performed either in the outpatient clinic using a Bergström needle (BN-biopsy) or in a Magnetic Resonance Imaging machine (MRI-biopsy). This study assessed the FSHD patients' experience of biopsies using a customized questionnaire...
May 2023: Neuromuscular Disorders: NMD
Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Chae
α-Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies associated with the defective glycosylation of α-dystroglycan (α-DG). Eighteen genes associated with α-dystroglycanopathies have been identified, and the relative prevalence of genetic subtypes varies with ethnicity. Here, we investigated the clinical and genetic characteristics of α-DG-related muscular dystrophy in the Korean pediatric population. We analyzed the clinical characteristics and variant profiles of 42 patients with α-DG-related muscular dystrophies diagnosed by either reduced glycosylation of α-DG and/or genetic confirmation...
May 2023: Neuromuscular Disorders: NMD
Florit Marcuse, Janneke G J Hoeijmakers, Monique Hochstenbag, Myrurgia Abdul Hamid, Marlies Keijzers, Marina Mané-Damas, Pilar Martinez-Martinez, Jan Verschuuren, Jan Kuks, Roy Beekman, Anneke J van der Kooi, Pieter van Doorn, Michael van Es, Jos J G Maessen, Marc H V De Baets
The aim of this study was to investigate the surgical and long-term neurological outcomes of patients with acetylcholine-receptor-antibody-associated myasthenia gravis (AChR-MG) who underwent robotic thymectomy (RATS). We retrospectively analyzed the clinical-pathological data of all patients with AChR-MG who underwent RATS using the DaVinci® Robotic System at the MUMC+ between April 2004 and December 2018. Follow-up data were collected from 60 referring Dutch hospitals. In total, 230 myasthenic patients including 76 patients with a thymoma (33...
May 2023: Neuromuscular Disorders: NMD
Haruhiko Motegi, Yohei Kirino, Ryoji Morishita, Ichizo Nishino, Shigeaki Suzuki
Overlap syndrome is a clinical entity of myositis concomitant with one or more collagen diseases such as systemic lupus erythematosus, systemic sclerosis, and/or rheumatoid arthritis. It is not evident whether the myopathology of overlap syndrome is disease-specific or categorizes one of the four major subsets: inclusion body myositis, immune-mediated necrotizing myopathy, dermatomyositis, and antisynthetase syndrome. We report a patient with overlap syndrome who exhibited autoantibodies against multiple transfer-RNA components by RNA immunoprecipitation, suggesting antisynthetase syndrome...
May 2023: Neuromuscular Disorders: NMD
Pannathat Soontrapa, Christopher J Klein, P James B Dyck, Sarah E Berini, Ellen D McPhail, Moritz Binder, Pitcha Chompoopong, JaNean Engelstad, Kamal Shouman
Amyloid-like IgM deposition neuropathy is a distinct entity in the setting of IgM monoclonal gammopathy in which endoneurial perivascular entire IgM-particle accumulation leads to a painful sensory followed by motor peripheral neuropathy. We report a 77-year-old man presenting with progressive multiple mononeuropathies starting with painless right foot drop. Electrodiagnostic studies showed severe axonal sensory-motor neuropathy superimposed by multiple mononeuropathies. Laboratory investigations were remarkable for biclonal gammopathy of IgM kappa, IgA lambda and severe sudomotor and mild cardiovagal autonomic dysfunction...
May 2023: Neuromuscular Disorders: NMD
Anna Ky Kwong, Yanmin Zhang, Ronnie Sl Ho, Yuan Gao, Xu Ling, Mandy Hy Tsang, H M Luk, Brian Hy Chung, Carsten G Bönnemann, Asif Javed, Sophelia Hs Chan
Collagen VI-related myopathies are a group of disorders that cause muscle weakness and joint contractures with significant variability in disease severity among patients. Here we report the clinical and genetic characteristics of 13 Chinese patients. Detailed histological, radiological and muscle transcriptomic evaluations were also conducted for selected representative patients. Across the cohort, fifteen putative disease causal variants were identified in three genes encoding collagen VI subunits, COL6A1 (n=6), COL6A2 (n=5), and COL6A3 (n=4)...
May 2023: Neuromuscular Disorders: NMD
Julie Fortin, Isabelle Côté, Cynthia Gagnon, Benjamin Gallais
Myotonic dystrophy type 1 (DM1) is a multisystemic inherited neuromuscular disease leading to central nervous system symptoms, including cognitive impairments, among multiple other symptoms. However, information is presently lacking regarding the psychometric properties of neuropsychological tests and promising computerized cognitive tests, such as the Cambridge Neuropsychological Test Automated Battery (CANTABⓇ ). This type of information is critical to improve clinical trial readiness and provide knowledge of DM1 natural history...
April 27, 2023: Neuromuscular Disorders: NMD
Gonski K, Chuang S, Teng A, Thambipillay G, Farrar Ma, Menezes Mp, Fitzgerald DA
It is unclear how improvements in peripheral motor function in children with spinal muscular atrophy (SMA), treated with nusinersen, translate into clinically significant respiratory/sleep outcomes. A retrospective chart review of SMA children at the Sydney Children's Hospital Network was undertaken looking at 2 years before and after receiving their first dose of nusinersen. Polysomnography (PSG), spirometry and clinical data were collected and analysed using paired and unpaired t-tests for PSG parameters and generalised estimating equations for longitudinal lung function data...
April 25, 2023: Neuromuscular Disorders: NMD
Lorenzo Maggi, Susana Quijano-Roy, Carsten Bönnemann, Gisèle Bonne
No abstract text is available yet for this article.
April 25, 2023: Neuromuscular Disorders: NMD
Sumatha Channapatna Suresh, Abida Hasan, Seyedeh Leila Zonnoor, Yaacov Anziska, Lisa Christopher-Stine, Kurenai Tanji, Naureen Kabani
IgG4-Related Disease (IgG4-RD)is a chronic fibroinflammatory disease typically characterized by inflammation or tumefaction of the organs involved. Skeletal muscle is not one of the typical organs involved in IgG4-RD. Isolated myositis related to IgG4-RD without common organ involvement such as lacrimal or salivary glands or retroperitoneal fibrosis is a controversial and debatable entity. Here we report a case of inflammatory myopathy in an elderly woman with several atypical clinical, lab, and histopathological findings suggestive of IgG4-related myositis...
April 7, 2023: Neuromuscular Disorders: NMD
Roula Ghaoui, Thuong T Ha, Jennifer Kerkhof, Haley McConkey, Song Gao, Milena Babic, Rob King, Gianina Ravenscroft, Barbara Koszyca, Sophia Otto, Nigel G Laing, Hamish Scott, Bekim Sadikovic, Karin S Kassahn
Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome and acute myeloid leukemia (AML). We describe a patient presenting to the neuromuscular clinic with a de novo missense variant in DNMT3A where the striking clinical feature is that of a congenital myopathy with associated episodes of rhabdomyolysis, severe myalgias and chest pain along with phenotypic features associated with TBRS. Muscle biopsy showed minor myopathic features and cardiac investigations revealed mildly impaired bi-ventricular systolic function...
April 4, 2023: Neuromuscular Disorders: NMD
Yong-Lan Tang, Zhe Ruan, Yue Su, Rong-Jing Guo, Ting Gao, Yu Liu, Huan-Huan Li, Chao Sun, Zhu-Yi Li, Ting Chang
Alteration in onset-age distribution in myasthenia gravis (MG) and its increasing prevalence among the elderly underscores the need for a better understanding of the clinical course of MG and the establishment of personalized treatment. In this study we reviewed the demographics, clinical profile, and treatment of MG. Based on onset age, eligible patients were classified as early-onset MG (onset age ≥18 and <50 years), late-onset MG (onset age ≥50 and <65 years), and very late-onset MG (onset age ≥65 years)...
April 2023: Neuromuscular Disorders: NMD
Laura Llansó, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M Blamire, Pierre G Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R Mendell, Volker Straub, Jordi Díaz-Manera
Dysferlinopathy is a muscle disease characterized by a variable clinical presentation and is caused by mutations in the DYSF gene. The Jain Clinical Outcome Study for Dysferlinopathy (COS) followed the largest cohort of patients (n=187) with genetically confirmed dysferlinopathy throughout a three-year natural history study, in which the patients underwent muscle function tests and muscle magnetic resonance imaging (MRI). We previously described the pattern of muscle pathology in this population and established a series of imaging criteria for diagnosis...
April 2023: Neuromuscular Disorders: NMD
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