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Source: Neuromuscular Disorders

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Total 1514 results found since Jan 2013.

P.20 Experiences of and perspectives on bullying in youth with myopathies
Bullying is intentional behaviour designed to harm victims. 1 in 10 Canadian youth are bullied 2 or more times a month. Youth with physical disabilities are more likely to be bullied, especially those with mobility restrictions. A gap exists in bullying research about populations with progressive mobility restrictions. Myopathies are a group of muscle diseases (i.e., muscular dystrophy, congenital myopathy) with a progressive course and can result in a dependence on assistive devices and assistance with activities of daily living.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: N. Chatur, C. Ippolito, L. McAdam Source Type: research

P.15 Symptomatic DMD carrier as a differential diagnosis in patients presenting asymmetrical limb weakness
We report two cases of symptomatic DMD carriers presenting with asymmetrical limb weakness. A 50-year-old woman visited the department of neurology presenting with slowly progressive weakness of the limbs since childhood.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: M. Cho, Y. Lee, A. Kim, J. Lee Source Type: research

VP.07 Lived experience of functioning of patients with nemaline myopathy and related disorders in Finland
Nemaline myopathy (NM) and related disorders (NMr) are ultrarare congenital myopathies with severity varying from mild muscle- or muscle group-specific weakness to a neonatally lethal disorder. Medical and biomedical studies of NM and NMr have dominated the research field, whereas little is known about coping in everyday life among persons with NM. To study the lived experience of physical, psychological and social functioning of adult NM and NMr patients in Finland, we conducted a survey using items primarily from PROMIS ® (Patient Reported Outcomes Measurement Information System) questionnaires.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: V. Lehtokari, C. Wallgren-Pettersson, M. Simil ä, M. Tammepuu, S. Strang-Karlsson, S. Hiekkala Source Type: research

VP.06 A new case of congenital myopathy related to TNNC2
We report an 18 yo man with a severe neonatal congenital myopathy that slowly improved over time. He was born with significant hypotonia and feeding difficulties. He was fed through a gastrostomy until 5 years of age. He walked independently at 4 yo. He is now able to ride a mountain bike on a regular basis. His physical examination showed a distal more than proximal weakness in upper limb and a more pelvic girdle weakness in lower limbs.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: B. Lace, N. Laflamme, S. Thonta Setty, N. Rioux, B. Ellezam, S. Rivest, N. Chrestian Source Type: research

VP.05 Innervation defect: new pathomechanism of centronuclear myopathy?
Mutations in DNM2, BIN1 and MTM1 cause centronuclear myopathy (CNM). T-tubule malformation and its resultant defects in excitation-contraction coupling has been suggested to be the pathomechanism of this disease. Recently, in biopsied skeletal muscles from some CNM patients, we noticed the circumferential localization of acetylcholinesterase (AChE) on the sarcolemma on histochemical stain for AChE, which may well be due to the failure of AChE clustering in neuromuscular junction (NMJ). In support of our notion, NMJ anomalies were recently described in Dnm2-mutant animals.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: Y. Saito, S. Hayashi, S. Noguchi, I. Nishino Source Type: research

VP.01 Array comparative genomic hybridisation and droplet digital PCR uncover recurrent copy number variation of the titin segmental duplication region
The sarcomeric giants nebulin and titin both contain intragenic segmental duplication regions. Segmental duplication regions are prevalent throughout the genome and are known potential hotspots for recurrent copy number variation and may harbour pathogenic aberrations. Using our custom comparative genomic hybridization array, we have shown that gains and losses of more than one copy of the repeated block of the nebulin triplicate region are a recessive pathogenic mutation contributing to the spectrum of nemaline myopathy-causing changes.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: L. Sagath, V. Lehtokari, K. Pelin, K. Kiiski Source Type: research

P.11 Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with congenital myopathy
This study aims to analyze the phenotypes and genotypes in Taiwanese patients with CMP in a referral center for neuromuscular diseases (NMDs). We enrolled 89 patients clinically suspected of having CMP who underwent muscle biopsy with subsequent genetic analysis in the past 15 years.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: W. Liang, C. Wang, W. Xao, W. Chen, I. Nishino, Y. Jong Source Type: research

VP.47 Interleukin 31 (IL-31) inhibition as a trigger for an immune-mediated myopathy?
A man in his early 50s was included into a trial with nemolizumab, an anti-IL-31 receptor A antibody, for the treatment of atopic dermatitis he suffered from for decades. He had no history of muscle complaints and practised martial arts. Upon the baseline visit, his creatine kinase (CK) was elevated slightly (x1,5 upper limit of normal (ULN)). Three weeks after the first injection, he experienced a phase of joint and muscle pains. Rheumatological work-up was judged unremarkable and two further injections were applied before treatment had to be stopped due to rising CK (x5.4 ULN maximum) as well as massive myalgia and arthralgia.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: M. Winkler, K. Kappes-Horn, J. Reimann Source Type: research

VP.44 Juvenile Anti-PM Scl75 myositis with necrosis, phagocytosis, and endomysial fibrosis
The most common myositis are usually divided in two groups: the autoimmune myositis or idiopathic inflammatory myopathies (dermatomyositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and inclusion body myositis), and the overlap myositis, manifesting with inflammatory myositis with extramuscular symptoms. Most children present dermatomyositis but other types of juvenile myositis may be a diagnostic challenge. A 3 years and 11 months old girl presented subacute muscle weakness with profound hypotonia since 2 years and 6 months of age.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: A. Cotta, E. Carvalho, A. Cunha, J. Valicek, M. Navarro, J. Paim, M. Lima, A. Cauhi, M. Quintero, A. Reis Source Type: research

VP.43 Immune-mediated necrotizing myopathies: clinical-serological features of a large Italian cohort of patients
Immune-mediated necrotizing myopathies (IMNMs) represent a heterogeneous group of muscle disorders recently identified within the spectrum of idiopathic inflammatory myopathies (IIMs) by distinctive clinical, pathological, serological, and therapeutic features. Currently, three different IMNM entities have been defined: 1) anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy; 2) anti-signal recognition particle (SRP) myopathy; 3) antibody negative IMNM. An accurate diagnosis of IMNMs is relevant for prognostic purposes and to provide the best chance of treatment for patient subtypes and prevent long-term disability.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: S. Bonanno, L. Maggi, IMNM Italian Study Group Source Type: research

P.89 Immune-mediated necrotizing myopathy associated with anti-SRP Antibodies: Three cases in Korea
Immune-mediated necrotizing myopathy associated with anti-SRP antibodies (anti-SRP myopathy) is characterized by progressive proximal muscle weakness and markedly elevated creatinine kinase (CK. Here, we report the clinical features of three Korean patient with anti-SRP myopathy. A 63-year-old man presented with progressive proximal muscle weakness and dysphagia. He showed symmetrical proximal weakness. The serum CK was 5,560U/L. The muscle biopsy of the biceps brachii showed mild muscle fiber size variation and a few degenerating muscle fibers.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: H. Lee, U. Yun, S. Lee, H. Park, Y. Choi Source Type: research

FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation
Desminopathies (DES; OMIM: 125660) are highly variable presenting as cardiomyopathy, myofibrillar myopathy (MFM) or a combination of both. Dominant mutations are more common while a few severe cases of recessive myofibrillar myopathy were reported with complete loss of desmin. Here, we report three unsolved Limb girdle congenital myasthenic syndrome (LG-CMS) patients with a recurrent homozygous intronic DES mutation identified by systematic reanalysis through Solve-RD project. Three unrelated patients (M:F – 2:1) aged 16, 21 and 22 years presented with history of delayed motor milestones, childhood onset of progressive muscle involvement.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: K. Polavarapu, R. Thompson, L. Matalonga, B. Nandeesh, S. Vengalil, V. Preethish-Kumar, S. Laurie, A. Nalini, H. Lochm üller Source Type: research

P.78 Skeletal myopathy or cardiomyopathy in glycogenin-1 deficiency - Two sides of the coin
We describe two patients with completely dissimilar clinical manifestations caused by pathogenic variants in GYG1. The first patient is a 44-year-old woman who experienced muscle weakness at the age of 20. At present she has proximal muscle weakness and a waddling gate.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: K. Visuttijai, C. Hedberg-Oldfors, N. Bermingham, D. Costello, E. Englund, O. Braun, A. Oldfors Source Type: research

FP.16 The effects of resistance exercise training on mitochondrial myopathy patients
Patients with single, large-scale mitochondrial DNA (mtDNA) deletions often present with mitochondrial myopathy (MM) for which no treatment is available. Exercise intervention induces beneficial effects in mitochondrial myopathy. However, the mechanisms for this are not yet understood. The aim of this study is to investigate genetic, biochemical and molecular changes triggered by 16-week resistance exercise training for the development of exercise mimetic drugs for the cure of MM patients. Quadriceps biopsies were taken from a cohort of single, large-scale mtDNA deletion patients before and after 16-week resistance exercise training.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: V. Di Leo, J. Newman, C. Lawless, F. Robertson, Y. Levy, J. Ochala, S. Pickett, G. Hudson, G. Gorman, H. Tuppen, A. Vincent, O. Russell Tags: METABOLIC MYOPATHIES Source Type: research

FP.06 Use of an exercise challenge system to define a universal proteomic signature of muscle injury in a diverse set of adults with inherited myopathy
Several inherited myopathies are defined by an enhanced injury response to exercise. However, current understanding of muscle injury depending on the underlying genetic lesion is poorly understood. We used an established exercise intervention along with the SOMAscan 7K platform to characterize serum proteomic signatures of exercise-induced muscle injury in a diverse set of adults with myopathy. Participants included healthy volunteers, Becker muscular dystrophy (BMD), Limb-girdle muscular dystrophies R9 (LGMDR9) and R12 (LGMDR12), and McArdle disease (McA).
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: M. Stemmerik, B. Barthel, N. Andersen, S. Skriver, A. Russell, J. Vissing Source Type: research