Efficacy and safety of tacrolimus as long-term monotherapy for myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against the acetylcholine receptor (AchR), the muscle-specific kinase, and other proteins concentrated at the neuromuscular junction, resulting in muscle weakness [1-2]. Anti-cholinesterase agents are the basic symptomatic treatment for MG [3]. These agents may be sufficient for ocular MG (OMG), but they are usually not so for generalized MG (gMG). Oral corticosteroids, mainly prednisolone (PSL), are widely used as initial immunosuppressive therapy for gMG [3] and have a sufficient improvement effect in more than half of the cases [4-8]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 22, 2021 Category: Neurology Authors: Kumi Itani, Masataka Nakamura, Reika Wate, Satoshi Kaneko, Kengo Fujita, Shin Iida, Satoshi Morise, Aya Murakami, Takenobu Kunieda, Norihiro Takenouchi, Yusuke Yakushiji, Hirofumi Kusaka Source Type: research

Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency
Reversible infantile respiratory chain deficiency (RIRCD) is characterized by subacute onset of profound hypotonia, feeding difficulties, and lactic acidosis within the first months of life and shows remarkable recovery. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 21, 2021 Category: Neurology Authors: Ana Cotta, Elmano Carvalho, AntonioLopes da-Cunha-Junior, M ônica Machado Navarro, Julia Filardi Paim, Jaquelin Valicek, Sidney Baptista-Junior, Eni Braga da Silveira, Maria Isabel Lima, Ericka Viana Machado Carellos, Alessandra de-La-Rocqu e-Ferreira, R Source Type: research

The nonsense mutation stop+4 model correlates with motor changes in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a progressive, X-linked neuromuscular disorder caused by mutations in the dystrophin gene [1]. Deletions are the most frequent type of mutation in DMD patients (65%) followed by small mutations (25%) and duplications (9%) [2 –4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 20, 2021 Category: Neurology Authors: Claudia Brogna, Giorgia Coratti, Rachele Rossi, Marcella Neri, Sonia Messina, Adele D ’ Amico, Claudio Bruno, Simona Lucibello, Gianluca Vita, Angela Berardinelli, Francesca Magri, Federica Ricci, Marina Pedemonte, Tiziana Mongini, Roberta Battini, Luca Source Type: research

Population pharmacokinetics –based recommendations for a single delayed or missed dose of nusinersen
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease affecting infants, children, and adults. It is a leading genetic cause of death in infants and children [1,2]. SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene, which encodes for SMN protein [3]. Deficiency of SMN protein leads principally to degeneration of spinal cord alpha motor neurons and progressive muscular atrophy, particularly in the trunk and proximal limb muscles. The paralogous SMN2 gene differs from SMN1 and produces mostly truncated protein that is dysfunctional and rapidly degraded. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 19, 2021 Category: Neurology Authors: Drew MacCannell, Zdenek Berger, Lilly East, Eugenio Mercuri, Janbernd Kirschner, Francesco Muntoni, Michelle A. Farrar, Joanna Peng, Jie Zhou, Ivan Nestorov, Wildon Farwell, Richard S. Finkel Source Type: research

The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2 - Response
We appreciate the interest of Hamadeh et al in our study “How to capture activities of daily living in myotonic dystrophy type 2?” [1] and we thank for their valuable comments. This letter to the editor enriches the discussion of our study by highlighting the pitfalls and limitations of adopting Rasch-built scales developed for a specific disease, in another disease, even if these diseases share some common clinical features. We definetly agree, as stated in our conclusions, that a DM2-specific scale is the best option to monitor disease progression and response to therapy especially in the setting of clinical ...
Source: Neuromuscular Disorders - February 19, 2021 Category: Neurology Authors: Federica Montagnese, Benedikt Schoser Tags: Letter to the Editor Source Type: research

Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscular Disorders 30 (2020) 254–264]
Current Text (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 16, 2021 Category: Neurology Authors: Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace, ENMC workshop study group Tags: Corrigendum Source Type: research

Late Onset Pompe Disease in India – beyond the Caucasian phenotype
Pompe disease, also known as ‘acid maltase deficiency'or ‘glycogen storage disorder type II’ is an autosomal recessive lysosomal storage disorder caused by mutations in the gene encoding acid-α glucosidase (GAA), an enzyme which degrades glycogen to glucose within the lysosomes. It is characterized by accumulation of gly cogen in various tissues of the affected individuals resultant to the deficiency of GAA [1,2]. This excess of glycogen causes swelling and rupture of the lysosomes with loss of glycogen to the cytoplasm, cellular dysfunction and progressive damage to the skeletal, cardiac and smooth...
Source: Neuromuscular Disorders - February 16, 2021 Category: Neurology Authors: Ratna Dua Puri, Nitika Setia, Vinu N, Sujatha Jagadeesh, Sheela Nampoothiri, Neerja Gupta, Mamta Muranjan, Meenakshi Bhat, Katta M Girisha, Madhulika Kabra, Jyotsna Verma, Divya C. Thomas, Ishpreet Biji, Jayarekha Raja, Ravinder Makkar, Ishwar C Verma, Pr Source Type: research

Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with Spinal Muscular Atrophy compared to Standard of Care guidelines
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation or absence of the 5q13 survival motor neuron (SMN1) gene, impacting 1 in every 6-10,000 infants [1, 2]. Clinical presentation includes progressive muscle atrophy and weakness while intellect and sensation remain intact [3]. Childhood-onset SMA is classified into three primary phenotypes, SMA Types 1-3, based on age of onset and highest motor function achieved. Individuals with Type 1 present with steep declines in motor and respiratory function in the first 12 months of life and are commonly classified as “non-sitters” as they...
Source: Neuromuscular Disorders - February 15, 2021 Category: Neurology Authors: Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell Source Type: research

Late-onset camptocormia caused by a heterozygous in-frame capn3 deletion
Camptocormia (from the Greek camptos=bent and cormos=trunk) defines a pathological flexion of the thoracic and lumbar spine that is fully reversible in the supine position and worsens in the standing position or with walking. Since the original description by Brodie in 1818 [1], this term has been widely used during the world wars I and II to indicate to describe psychogenic postural manifestations of stress among soldiers, and until few decades ago it has been implicitly linked to conversion disorder. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 14, 2021 Category: Neurology Authors: Marco Spinazzi, Jerome Poupiot, Julien Cassereau, France Leturcq, Laurent Brunereau, Edoardo Malfatti, Isabelle Richard, Franck Letournel Source Type: research

The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2
In this study, the authors analyzed the performance of outcome measures that are specifically designed for other illnesses in a group of myotonic dystrophy type 2 (DM 2) patients [1]. It has been described in the literatu re how factors such as item weighting and relevance in outcome measures vary significantly between different illnesses. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 12, 2021 Category: Neurology Authors: Tatiana Hamadeh, David S.H. Bovenkerk, Catharina G. Faber, Ingemar S.J. Merkies Source Type: research

Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies
Each myosin molecule is composed of two heavy chains and four light chains, encoded by different genes, that interact with actin to generate contraction of a muscle fibre. Developmentally regulated myosin heavy chain isoforms (MyHC) that differed from adult fast and slow MyHC were first identified by Whalen et al [1]. Embryonic (also known as developmental) and fetal (also known as neonatal or perinatal) MyHCs are 2 distinct myosin isoforms encoded by MYH3 and MYH8 respectively [2, 3], and variants in these two genes are responsible for syndromes associated with distal arthrogryposis [4, 5]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 11, 2021 Category: Neurology Authors: C.A. Sewry, L. Feng, D. Chambers, E. Matthews, R. Phadke Source Type: research

Clinical and genetic characteristics of Chinese patients with reducing body myopathy
The human four and a half LIM domain 1 (FHL1) gene is located on Xq26.3 and encodes a 32kDa protein characterized by four and a half LIM domain structure [1]. The LIM domain is a highly conserved cysteine-rich tandem-zinc finger containing highly conserved cysteine and histidine residues to coordinate the binding to zinc ions, which is essential to stabilize the structure [2]. In addition to the full length FHL1 (FHL1A), there are two additional FHL1 gene products FHL1B and FHL1C derived from alternative splicing which contain less LIM domain structure [3-5]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 11, 2021 Category: Neurology Authors: Lei Chen, Hui-Xia Lin, Xin-Xia Yang, Dian-Fu Chen, Hai-Lin Dong, Hao Yu, Gong-Lu Liu, Zhi-Ying Wu Source Type: research

A rare case of monozygotic triplets with Duchenne muscular dystrophy
We present a rare case of monozygotic triplets with a de novo mutation in DMD who shared consistent phenotypes and treatment responses. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 9, 2021 Category: Neurology Authors: Liang Wang, Jinfu Lin, Fu Xiong, Yingyin Liang, Huan Li, Ziyu Liao, Cheng Zhang Source Type: research

Third case of Duchenne muscular dystrophy and west syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype
Duchenne muscular Dystrophy (DMD) is an X-Linked neuromuscular disorder, and the most common muscular dystrophy with an incidence of 1:5000 males [1]. The clinical presentation starts between 3 and 5 years of age with gross motor delay, abnormal gait, frequent falls and difficulty rising from the floor and climbing stairs [2]. Increased creatine kinase (CK) levels 10 folds than normal values is a typical finding even before the onset of clinical symptoms. DMD is caused by mutations in the dystrophin gene leading to the absence of the dystrophin protein and the subsequent pathological cascade [1,2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 9, 2021 Category: Neurology Authors: Christian Pe ña-Padilla, Ivon Romero-Valenzuela, Alejandra Baldomero-López, Ana Karen Sandoval-Talamantes, Abril Castellanos-Gonzalez, Peter L. Nagy, Rebecca R. Kelly, Jorge Roman Corona-Rivera Tags: Case Reports Source Type: research

The spinal muscular atrophy health index: italian validation of a disease-specific outcome measure
Spinal Muscular Atrophy (SMA) is one of the most common genetically-inherited autosomal recessive disorders, caused by a homozygous mutation of the SMN1 gene at the 5q13 chromosome region [1,2]. This neurodegenerative condition leads to muscle atrophy and weakness. Classically, the classification of SMA was based on the age of symptom onset and severity. Clinical heterogeneity characterizes adults with SMA [3 –5]. Within subtypes there is remarkable diversity in neuromotor functional limitations that impact the lives of affected individuals [6]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 9, 2021 Category: Neurology Authors: Valeria A. Sansone, Alice Pirola, Andrea Lizio, Lucia Catherine Greco, Giorgia Coratti, Jacopo Casiraghi, Marika Pane, Maria Carmela Pera, Cristina Italiano, Sonia Messina, Susanna Pozzi, Maria Sframeli, Adele D'Amico, Enrico Bertini, Claudio Bruno, Luca Source Type: research

Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder occurring in approximately 1 in 10,000 live births [1]. Characterized by degeneration of motor neurons, SMA leads to progressive muscle weakness and atrophy [2, 3]. It is caused by homozygous mutations in survival of motor neuron 1 gene (SMN1) resulting in SMN protein deficiency [2-4]. A closely homologous gene, SMN2, has variable copy numbers (with greater copy number being associated with lower disease severity [5]) and also produces SMN protein. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 3, 2021 Category: Neurology Authors: Nicole Gusset, Caroline Stalens, Eva Stumpe, Lori Klouvi, Alexandre Mejat, Marie-Christine Ouillade, Menc ía de Lemus Source Type: research

Longitudinal data of neuropsychological profile in a cohort of duchenne muscular dystrophy boys without cognitive impairment
It has long been known that Duchenne muscular dystrophy (DMD) is a disorder leading not only to muscle wasting, but also often associated with neuropsychological difficulties, such as a non-progressive cognitive impairment [1,2], language involvement [3,4], and deficits in executive functions [5], with a negative impact on both academic skills [6-9] and psycho-social functioning. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 3, 2021 Category: Neurology Authors: R Battini, S Lenzi, S Lucibello, D Chieffo, F. Moriconi, P. Cristofani, S. Bulgheroni, F. Cumbo, M. Pane, G. Baranello, P. Alfieri, G. Astrea, G. Cioni, S. Vicari, E. Mercuri Source Type: research

Disease-Modifying Effects of Edasalonexent, an NF- κB Inhibitor, in Young Boys with Duchenne Muscular Dystrophy: Results of the MoveDMD Phase 2 and Open Label Extension Trial
Duchenne muscular dystrophy (DMD) is the most common genetic neuromuscular disease of childhood, affecting 1 in 3,500-6000 male births [1, 2]. DMD manifests clinically as progressive symmetric muscle weakness and degeneration with loss of contractile function and is uniformly fatal with death most often resulting from cardio-pulmonary complications in early- to mid-adulthood [3]. DMD is caused by a variety of mutations in the DMD gene, which encodes dystrophin, a critical protein linker to the sarcolemma membrane complex. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 3, 2021 Category: Neurology Authors: Richard S. Finkel, Erika Finanger, Krista Vandenborne, H Lee Sweeney, Gihan Tennekoon, Perry B. Shieh, Rebecca Willcocks, Glenn Walter, William D. Rooney, Sean C. Forbes, William T. Triplett, Sabrina W. Yum, Maria Mancini, James MacDougall, Angelika Fretz Source Type: research

Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3
Spinal muscular atrophy (SMA) is a hereditary, progressive, degenerative disorder of motor neurons in the spinal cord and lower brainstem, manifesting clinically as muscular weakness and atrophy [1]. It results from mutations in both copies of the survival of motor neuron 1 (SMN1) gene located on the long arm of the chromosome 5 (5q) and the consequent lack of fully functional SMN protein [1,2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 2, 2021 Category: Neurology Authors: Stefan A. Djordjevic, Vedrana Milic-Rasic, Vesna Brankovic, Ana Kosac, Ivana Dejanovic-Djordjevic, Ljiljana Markovic-Denic, Goran Djuricic, Natasa Milcanovic, Smiljka Kovacevic, Hristina Petrovic, Milan Djukic, Vera Zdravkovic Source Type: research

Editorial Board
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 1, 2021 Category: Neurology Source Type: research

251st ENMC international workshop: Polyglucosan storage myopathies 13 –15 December 2019, Hoofddorp, the Netherlands
The organizers of the 251st ENMC workshop welcomed 22 participants including a patient representative and three industry representatives from European countries, Israel and the United States of America to the first workshop on polyglucosan storage myopathies, which are a group of glycogen storage diseases with aggregation of polyglucans that resemble glycogen, but are less branched. Polyglucosan is an amylopectin-like polysaccharide associated with defective glycogen metabolism and, unlike normal glycogen, it is to some extent resistant to α-amylase digestion. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 22, 2021 Category: Neurology Authors: Pascal Lafor êt, Anders Oldfors, Edoardo Malfatti, John Vissing, ENMC 251st workshop study group Tags: Workshop report Source Type: research

251st ENMC International Workshop: Polyglucosan Storage Myopathies 13-15 December 2019, Hoofddorp, The Netherlands
The organizers of the 251st ENMC workshop welcomed 22 participants including a patient representative and three industry representatives from European countries, Israel and the United States of America to the first workshop on polyglucosan storage myopathies, which are a group of glycogen storage diseases with aggregation of polyglucans that resemble glycogen, but are less branched. Polyglucosan is an amylopectin-like polysaccharide associated with defective glycogen metabolism and, unlike normal glycogen, it is to some extent resistant to α-amylase digestion. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 22, 2021 Category: Neurology Authors: Pascal Lafor êt, Anders Oldfors, Edoardo Malfatti, John Vissing, ENMC 251st workshop study group Tags: Workshop report Source Type: research

Miyoshi Myopathy and Limb Girdle Muscular Dystrophy R2 are the same disease
Dysferlinopathy is an autosomal recessively inherited form of muscular dystrophy, which predominantly affects skeletal muscle, resulting in progressive weakness and muscle wasting. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 21, 2021 Category: Neurology Authors: Ursula Moore, Heather Gordish, Jordi Diaz-Manera, Meredith K. James, Anna G. Mayhew, Michela Guglieri, Roberto Fernandez Torron, Laura E. Rufibach, Jia Feng, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharu Source Type: research

A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the biallelic mutations, most frequently deletions, of the survival motor neuron gene 1 (SMN1), responsible for 90% of SMN protein production in healthy individuals [1]. In humans, a second gene, survival motor neuron 2 (SMN2) gene, exists which alone produces insufficient protein to maintain muscle function [1]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 20, 2021 Category: Neurology Authors: L Edel, C Grime, V Robinson, A Manzur, F Abel, P Munot, D Ridout, M Scoto, F Muntoni, E Chan Source Type: research

Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy
Muscular dystrophy (MD) is a collection of inherited neuromuscular disorders caused by mutations in various genes [1]. Such mutations result in either a problem with, or lack of, one of the proteins within muscle cells [2]. Facioscapulohumeral (FSHD), Becker (BMD) and Limb-girdle (LGMD) MD are associated with defects in the proteins of the sarco-glycan complex [3-5]. Despite variations in genotype between MD conditions and condition-specific presentations of physical impairment, all MDs cause progressive reductions in muscle strength and a worsening ability to perform daily functional tasks such as walking [6]. (Source: Ne...
Source: Neuromuscular Disorders - January 18, 2021 Category: Neurology Authors: Dawn N. O'Dowd, Emma L. Bostock, Dave Smith, Christopher I. Morse, Paul Orme, Carl J. Payton Source Type: research

Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan [1]. It is an autosomal recessive disorder caused by a mutation in the fukutin (FKTN) gene, and is characterized by muscle wasting and brain malformation, resulting in motor impairment, mental retardation, and seizures [1, 2]. To date, serum creatine kinase (CK) has been a well-known biomarker for FCMD in addition to other muscular dystrophies. However, serum CK requires a blood sample, which is invasive. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 13, 2021 Category: Neurology Authors: Takatoshi Sato, Hiroyuki Awano, Kumiko Ishiguro, Minobu Shichiji, Terumi Murakami, Taku Shirakawa, Masafumi Matsuo, Satoru Nagata, Keiko Ishigaki Source Type: research

A Systematic Review of Late-onset and Very-late-onset Multiple Acyl-coenzyme A Dehydrogenase Deficiency: Cohort Analysis and Patient Report from Taiwan
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), which is also called glutaric aciduria type II, is a rare autosomal recessive inherited disorder of fatty acid oxidation that is mainly caused by pathogenic variants in ETFA, ETFB, and ETFDH, which are responsible for electron transfer to the respiratory chain, subsequently causing mitochondrial dysfunction and lipid storage myopathy [1]. Regarding the clinical aspects, MADD patients can be categorized into the following 3 broad phenotypes:[2,3] type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (la...
Source: Neuromuscular Disorders - January 13, 2021 Category: Neurology Authors: Yih-Chih Kuo, Hsueh-Wen Hsueh, Sung-Ju Hsueh, Ni-Chung Lee, Ming-Ju Hsieh, Chi-Chao Chao, Yin-Hsiu Chien, Pei-Hsin Huang, Chih-Chao Yang Source Type: research

Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]
This article reported on the results from a phase 2 trial of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (Clinicaltrials.gov identifiers: NCT02310763 and NCT02907619). The manuscript also provided results on two secondary endpoints for magnetic resonance imaging (MRI), muscle volume and muscle volume index. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 12, 2021 Category: Neurology Authors: Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. McDonald, Anna Kostera-Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico S. Tags: Corrigendum Source Type: research

Functional analysis of a novel POL γA mutation associated with a severe perinatal mitochondrial encephalomyopathy
DNA polymerase gamma (POL γ) is a nuclear-encoded protein that replicates mitochondrial DNA (mtDNA). Human POLγ is a heterotrimer comprising the catalytic POLγA subunit and a dimeric POLγB processivity factor [1]. POLγA has 5′-3′ DNA polymerase and 3′-5′ exonuclease activities, maintaining a relatively constant mtDNA copy number [1, 2]. Mutations in the gene encoding POLγA (POLG) are a common cause of mitochondrial disease, with over 300 causative mutations reported [3] (https://tools.niehs.nih.gov/polg/). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 11, 2021 Category: Neurology Authors: Niklas Darin, Triinu Siibak, Bradley Peter, Carola Hedberg-Oldfors, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg Source Type: research

Prevalence of Atrial Fibrillation in Myotonic Dystrophy type 1: a systematic review
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular disease of adult life, with an estimated incidence of 1:8000 births and a worldwide prevalence that ranges from 2.1 to 14/100000 inhabitants1. Cardiac involvement is noticed in about 80% of cases2, 3 and it often precedes skeletal muscle impairment. Cardiac manifestations are characterized by cardiac conduction disorders2, paroxysmal tachyarrhythmias4 –6, ventricular dissynchrony7, cardiomyopathy with left ventricular systolic dysfunction8–10 and sudden cardiac death11–13. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 9, 2021 Category: Neurology Authors: Vincenzo Russo, Andrea Antonio Papa, Michele Lioncino, Anna Rago, Francesco Di Fraia, Alberto Palladino, Luisa Politano, Paolo Golino, Gerardo Nigro Tags: Review Source Type: research

Characterization of Cannabis Use by Patients with Myotonic Dystrophy Type 1: a pilot study
Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease characterized by the presence of progressive muscle weakness and myotonia [1]. Patients also often report pain, fatigue, impaired sleep and diverse functional limitations among other symptoms [2]. The treatment of DM1 is mostly symptomatic as there is no disease-modifying therapy yet available. However, some symptoms are amenable to treatment but with mixed results including myotonia and pain. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 9, 2021 Category: Neurology Authors: William Beauchesne, Catherine Savard, Marika C ôté-Hamel, Émilie Poliquin, Valérie Gagné-Ouellet, Cynthia Gagnon, Karine Tremblay Source Type: research

Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI
Desminopathies are a sub group of myofibrillar myopathies typically presenting with distal weakness [1,2]. Myoimaging is a valuable part of the diagnostic work up and monitoring of patients with muscle disease [3]. In both congenital and inflammatory myopathies, myoimaging may reveal a typical pattern of muscle involvement allowing diagnosis or provide an optimal target for muscle biopsy or genetic testing [4,5]. Myofibrillary myopathies are particularly challenging to recognise and diagnose given the variation in clinical symptoms even within individuals harbouring the same pathogenic genetic variant, notably in desminopa...
Source: Neuromuscular Disorders - January 7, 2021 Category: Neurology Authors: Liam S. Carroll, Mark Walker, David Allen, Ciara Marini-Bettolo, Adam Ditchfield, Ashwin A. Pinto, Simon R. Hammans Tags: Case report Source Type: research

Desminopathy Presenting as Late-onset Bilateral Facial Weakness, With Diagnosis Supported by Lower Limb MRI
Desminopathies are a sub-group of myofibrillar myopathies typically presenting with distal weakness [1,2]. Myoimaging is a valuable part of the diagnostic work-up and monitoring of patients with muscle disease [3]. In both congenital and inflammatory myopathies, myoimaging may reveal a typical pattern of muscle involvement allowing diagnosis or provide an optimal target for muscle biopsy or genetic testing [4,5]. Myofibrillary myopathies are particularly challenging to recognise and diagnose given the variation in clinical symptoms even within individuals harbouring the same pathogenic genetic variant, notably in desminopa...
Source: Neuromuscular Disorders - January 7, 2021 Category: Neurology Authors: Carroll LS, Walker M, Allen D, Marini-Bettolo C, Ditchfield A, Pinto A, Hammans S Source Type: research

Commentary from the Editor
It has been a memorable year for the world, and for Neuromuscular Disorders. Against the backdrop of global turmoil that Covid-19 brought with it, Victor Dubowitz, founding Editor-in-Chief of the journal, stepped down from the editorship at the end of September after 30 years ’ devotion to it. Victor Dubowitz was the driving force behind the foundation of the journal, after a weekend meeting in Bologna with Luciano Merlini and Giovanni Nigro and launched at the International Congress of Neuromuscular Diseases in Munich in the autumn of 1990 with a group of colleagues i nvited to form the editorial board. (Source: Neu...
Source: Neuromuscular Disorders - January 1, 2021 Category: Neurology Authors: Anders Oldfors Tags: Editorial Source Type: research

Editorial Board
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 1, 2021 Category: Neurology Source Type: research

Isokinetic strength and degeneration of lower extremity muscles in patients with Myotonic Dystrophy; an MRI study
Myotonic dystrophy type 1 (DM1) is the most common adult-onset inherited muscular dystrophy characterized by progressive weakness of facial and distal skeletal muscles and myotonia [1]. Histological examinations and MRI scans have demonstrated muscle degeneration in DM1 including muscular fat infiltration and muscular atrophy. These abnormalities are primarily found in the distal muscles, most notably Mm. gastrocnemius caput mediale, soleus and tibialis anterior in the lower extremities [2-5] and M. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 28, 2020 Category: Neurology Authors: C.H. Steenkjaer, R.A. Mencagli, M. Vaeggemose, H. Andersen Source Type: research

Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy.
Anti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) myopathy is a rare, disabling, auto-immune myopathy with necrotizing pathological features, that usually follows statin exposure. Generally, patients present with proximal muscle weakness, elevated CK levels and high titres of antibodies against HMGCR [1] that persist despite statins discontinuation, while improvement typically follows the start of immunotherapy [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 27, 2020 Category: Neurology Authors: Angela Zuppa, Chiara Demichelis, Giuseppe Meo, Valeria Prada, Chiara Gemelli, Maria Infantino, Mariangela Manfredi, Giampaola Pesce, Alberto S. Tagliafico, Luana Benedetti, Chiara Fiorillo, Angelo Schenone, Luca Quartuccio, Marina Grandis Tags: Case report Source Type: research

Respiratory decline in adult patients with Becker muscular dystrophy: a longitudinal study
Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease, caused by a genetic defect in the Duchenne Muscular Dystrophy (DMD) gene, leading to a deficient, less functional dystrophin protein. In contrast, DMD is caused by a complete absence of dystrophin protein and is accompanied by a more severe phenotype. In general, in-frame mutations lead to a BMD phenotype and out of frame mutations to DMD, although exceptions occur.[1] BMD is a rare disease with a prevalence of around 2.5/100.000. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 25, 2020 Category: Neurology Authors: Bram De Wel, Sofie Willaert, Aleksandra Nadaj-Pakleza, Anne-Catherine Aub é-Nathier, Dries Testelmans, Bertien Buyse, Kristl G. Claeys Source Type: research

Persistently elevated CK and lysosomal storage myopathy associated with Mucolipin 1 defects
Mucolipidosis type IV (MLIV; OMIM 252650) is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1 (OMIM: 605248) [1]. This encodes mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular trafficking of lipids and proteins, exocytosis and fusion [2-4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 21, 2020 Category: Neurology Authors: Alberto A. Zambon, Alexandra Lemaigre, Rahul Phadke, Stephanie Grunewald, Caroline Sewry, Anna Sarkozy, Emma Clement, Francesco Muntoni, Genomics England Research Consortium Tags: Case report Source Type: research

Nusinersen Treatment of Older Children and Adults with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder with an incidence of 1 in 11,000 livebirths, and the most common genetic cause of infant mortality [1]. SMA is caused by homozygous deletions or mutations in the survival motor neuron 1 (SMN1) gene, resulting in decreased expression of survival motor neuron (SMN) protein and subsequent degradation of motor neurons in the spinal cord [1]. This mutation causes a reliance on the survival motor neuron 2 (SMN2) gene, which differs by a single C> T nucleotide within exon 7 that abolishes an exonic splicing enhancer region, resulting in aberrant spl...
Source: Neuromuscular Disorders - December 20, 2020 Category: Neurology Authors: Chamindra G. Konersman, Emily Ewing, Burt Yaszay, John Naheedy, Susan Murphy, Andrew Skalsky Source Type: research

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by a homozygous deletion of the SMN1 gene, or rarely by compound heterozygosity with smaller SMN1 mutations [1]. SMA is characterized by the degeneration of alpha motor neurons in the anterior horn of the spinal cord. SMA is classified into four different subtypes (types 1-4) based on the highest achieved motor milestone [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 18, 2020 Category: Neurology Authors: Renske I. Wadman, Ramona De Amicis, Chiara Brusa, Alberto Battezzati, Simona Bertoli, Tracey Davis, Marion Main, Adnan Manzur, Chiara Mastella, Pinki Munot, Nadia Imbrigiotta, Lucia Schottlaender, Anna Sarkozy, Federica Trucco, Giovanni Baranello, Mariacr Source Type: research

Physical training and exercise in myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disease with antibodies that bind to the postsynaptic membrane on skeletal muscle cells. These antibodies impair the function of acetylcholine receptors (AChR), increase their degradation and induce morphological changes in the membrane [1]. The antibodies are directed against the extracellular part of the AChR itself, or against membrane proteins that functionally interact with AChR; muscle-specific tyrosine kinase (MuSK) or lipoprotein-related peptide 4 (LRP4). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 17, 2020 Category: Neurology Authors: Nils Erik Gilhus Source Type: research

A DM1 Patient with CCG variant repeats: Reaching the Diagnosis
Myotonic dystrophy type 1 (DM1) is a progressive, multi-system disorder affecting skeletal muscles, the heart, gastrointestinal and uterine smooth muscle, eyes, central nervous and endocrine systems. The genetic basis is a repeat expansion of CTG trinucleotides in the 3 ’-UTR of the dystrophia myotonica protein kinase (DMPK) gene. The expansion varies from 50 to several thousand repeats and inversely correlates with age at symptom onset [1–3]. The repeat tract is characterised by germline expansion, which contributes to genetic anticipation [4], and somatic exp ansion [5–6], which in turn contributes towa...
Source: Neuromuscular Disorders - December 17, 2020 Category: Neurology Authors: Sarah A. Cumming, Agata Oliwa, Gillian Stevens, Bob Ballantyne, Cameron Mann, Saif Razvi, Cheryl Longman, Darren G. Monckton, Maria Elena Farrugia Source Type: research

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
Skeletal muscle channelopathies (SMCs) are rare genetic diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact the patients'quality of life [1]. Despite advances in the understanding of the molecular pathology of these disorders, the different phenotypic manifestations represent a challenge in diagnosis, therapeutic, genetic counselling, and research planning [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 14, 2020 Category: Neurology Authors: Raffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, Federico Verde, Annamaria Gallone, Alessandra Ariatti, Massimiliano Filosto, Cristina Petrelli, Francesco Ottavio Logullo, Marcello Esposito, Lucia Ruggiero, Paola Tonin, Pietro Riguzzi, Elena Pegoraro, Source Type: research

A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: a case report
Congenital myasthenic syndromes (CMS) are a heterogenous group of disorders of neuromuscular transmission that arise from defective genes that code for, or modify, structural and functional proteins of the pre-synaptic, synaptic or post-synaptic membranes of the neuromuscular junction [1-3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 11, 2020 Category: Neurology Authors: Anomali Vidanagamage, Inuka Kishara Gooneratne, Shanika Nandasiri, Kamal Gunaratne, Arjuna Fernando, Susan Maxwell, Judith Cossins, David Beeson, Thashi Chang Tags: Case report Source Type: research

Analysis of complex structural variants in the dmd gene in one family
Dystrophinopathies are X-linked recessive diseases caused by pathogenic variants in the DMD gene (OMIM ID: 300377). Dystrophinopathies are characterized by mild to severe progressive degeneration and weakness of skeletal and cardiac muscles, and can be classified into: Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and DMD-associated Dilated Cardiomyopathy (DCM) [1,2]. DMD is the most prevalent pediatric form of muscular dystrophy, with an incidence of 1:3500-5000 male births [3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 6, 2020 Category: Neurology Authors: Leonela Luce, Mart ín M. Abelleyro, Micaela Carcione, Chiara Mazzanti, Liliana Rossetti, Pamela Radic, Irene Szijan, Sebastián Menazzi, Liliana Francipane, Julián Nevado, Pablo Lapunzina, Carlos De Brasi, Florencia Giliberto Source Type: research

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
Nemaline myopathies (NEM) represent a heterogeneous group of congenital myopathies, characterized by skeletal muscle hypotonia and respiratory distress. Histomorphologically, NEMs are defined by the presence of sarcoplasmic rod-like inclusions (rods, or nemaline bodies) in muscle fibres that can be visualised using modified G ömöri trichrome staining [1]. They are composed of Z-disc proteins, such as alpha-actinin, filamin, telethonin, myopalladin, myotilin and myozenin [2]. Ultrastructurally, nemaline bodies appear electron dense, may show structural continuity with Z-discs, have a similar lattice structure, and...
Source: Neuromuscular Disorders - December 5, 2020 Category: Neurology Authors: Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert Source Type: research

Effect of long term enzyme replacement therapy in late onset Pompe disease: a single-centre experience
Glycogen storage disease (GSD) type II (OMIM: 232300) or Pompe disease is a rare autosomal recessive disorder, caused by lysosomal acid alpha-glucosidase (GAA) deficiency with a varying clinical spectrum from a severe classical infantile-onset (IOPD) to a usually milder late-onset (LOPD) form [1-4]. IOPD is characterized by predominant cardiorespiratory involvement, hypotonia and severe muscle weakness with fatal outcome if remained untreated. On the contrary, LOPD, further subclassified into childhood, adolescent or even adult onset form, may be phenotypically heterogeneous with variable severity ranging from asymptomatic...
Source: Neuromuscular Disorders - December 5, 2020 Category: Neurology Authors: George K. Papadimas, Christoforos Anagnostopoulos, Sophia Xirou, Helen Michelakakis, Gerasimos Terzis, Irene Mavridou, Evangelia Kararizou, Constantinos Papadopoulos Source Type: research

Editorial Board
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 1, 2020 Category: Neurology Source Type: research

Erratum to “Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR” [Neuromuscular Disorders, 30(3) 2020, 219-226]
The publisher regrets the omission of the following information: Funding sources: This work was supported by the National Key Research and Development Program of China (2018YFC1002401 to KS), National Natural Science Foundation of China (81801491 to YX and 81701458 to MYD), Shanghai Municipal Commission of Health and Family Planning (20174Y0101 to YX and 20174Y0219 to MYD) and Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (15QT05 to YX). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 1, 2020 Category: Neurology Authors: Yan Xu, Bing Xiao, Yu Liu, Xiao-Xing Qu, Meng-Yao Dai, Xiao-Min Ying, Wen-Ting Jiang, Jing-Min Zhang, Xiao-Qing Liu, Ying-Wei Chen, Xing Ji Tags: Erratum Source Type: research