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Source: Neuromuscular Disorders

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Total 1514 results found since Jan 2013.

Congenital myopathies – centronuclear myopathies
Breakthrough advances have recently been achieved in therapy development in the neuromuscular disease field, based on promising preclinical data obtained in animal models. Generating reliable preclinical therapeutic data from validated animal models can significantly de-risk drug development by improving trust in the outcome from preclinical studies across study sites. Here we perform statistical analysis and a joint longitudinal-survival modelling of the progressive phenotype observed in Mtm1 −/y knock-out mice, a faithful model for myotubular myopathy, due to myotubularin 1 (MTM1) loss-of-function mutations.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Buono, A. Monseur, A. Menuet, A. Rob é, C. Koch, J. Laporte, L. Thielemans, M. Depla, B. Cowling Source Type: research

Congenital myopathies – centronuclear myopathies
Myotubular and other centronuclear myopathies are congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000 male births. The Myotubular and Centronuclear Myopathy Patient Registry ("the registry") collects demographic, genetic and clinical data on affected individuals and female carriers of XLMTM from all over the world.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Bullivant, B. Porter, L. Murphy, L. Render, M. Bellgard, A. Lennox, M. Spring, A. Hollander, C. B önnemann, H. Jungbluth, A. Buj-Bello, J. Dowling, C. Marini-Bettolo Source Type: research

Autoimmune & inflammatory nmd
Our objective is to describe two genetically confirmed Oculopharyngeal Muscular Dystrophy (OPMD) patients with HMGCoARdase-antibody positive autoimmune necrotic myopathy (AINM) responsive to immunosuppressive treatment. Although clinicians have suspected muscular dystrophy patients are at increased risk of statin side-effects, to date no patients with genetically confirmed muscular dystrophy have been reported with HMGCoRdase-antibody positive AINM. Here we describe the clinical presentation, serology, muscle pathology and response to treatment in two patients with genetically confirmed OPMD who developed statin-associated AINM.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: K. Alrasheed, B. Brais, J. Schulz, T. Wein, J. Karamchandani, E. O'Ferrall Source Type: research

Autoimmune & inflammatory nmd
Inclusion body myositis (IBM) is a slowly progressive myopathy with unique clinical and pathological features. So far, there are several case reports of patients with IBM and HTLV-I infection. However, there is no study that investigated clinical features of IBM associated with HTLV-I infection. We investigated the clinical differences between the IBM patients with and without anti-HTLV-I antibodies. In 402 patients enrolled into the study, 250 patients fulfilled the ENMC2011 criteria for diagnoses of IBM.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Yamashita, K. Hara, N. Tawara Source Type: research

Autoimmune & inflammatory nmd
Idiopathic inflammatory myopathies are a heterogenous group of diseases with prominent muscle inflammation and/or necrosis. Myositis is diagnosed through a combination of clinical, serologic, pathologic, and/or imaging findings, though these tools do not always yield clear diagnoses. A variety of neuromuscular conditions can mimic myositis, including muscular dystrophies, metabolic, endocrine, and toxic myopathies, and infectious myopathies. Through a series of four illustrative cases misdiagnosed as and treated for myositis, we highlight pitfalls and lessons to properly diagnosis myositis mimics to avoid immunosuppressant...
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: C. Sanderson, S. Bhai Source Type: research

Autoimmune & inflammatory nmd
Sporadic late-onset nemaline myopathy (SLONM) is characterized by the presence of nemaline bodies in skeletal muscle biopsies. SLONM is a non-hereditary myopathy usually affecting adults in 5th-7th decade and the most common clinical presentation is proximal muscle weakness. SLONM can be classified into 2 major subtypes considering its association with monoclonal gammopathy (1) SLONM without MGUS (SLONM-noMGUS) and (2) with MGUS (SLONM-MGUS) association. SLONM-MGUS has been shown to be associated with poorer prognosis and required aggressive treatment including high dose melphalan and autologous stem cell transplantation.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Tanboon, A. Uruha, Y. Arahata, C. Dittmayer, L. Schweizer, H. Goebel, I. Nishino, W. Stenzel Source Type: research

Autoimmune & inflammatory nmd
Systemic sclerosis (SSc) is a multisystemic fibrotic autoimmune disease that involves the muscles. Two muscular forms were described: the SSc myositis and myopathy. The SSc myopathy is characterized by three main histopathological findings: fibrosis, microangiopathy and type-II fiber atrophy. Quantifying these features is important to enable staging the disease, establishing a prognostic tool and linking it with systematic involvement. Muscle biopsies from 22 SSc patients and seven controls (patients with histologically normal muscle) were sectioned and stained for the pathological features of SSc myopathy.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: L. Zaidan, N. Le Gouellec, N. Dognon, E. Hachulla, L. Mouthon, J. Authier Source Type: research

Autoimmune & inflammatory nmd
Anti-transcription intermediary factor 1 γ (TIF1γ) antibodies are one of the myositis-specific antibodies frequently detected in dermatomyositis (DM). To elucidate the characteristics of anti-TIF1γ antibody-positive myositis, we extracted cases with anti-TIF1γ antibodies from idiopathic inflammatory myopathy (IIM) patients who underwen t muscle biopsy from 2008 to 2019, and analyzed the clinicopathological findings. We found 87 cases of IIM (40 DM, 3 polymyositis, 25 immune-mediated necrotizing myopathy, 14 antisynthetase syndrome, and 5 nonspecific myositis), among which anti-TIF1γ antibodies were positive in 13 case...
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: A. Yamanaka, N. Eura, M. Yamaoka, M. Ozaki, T. Shiota, H. Nanaura, K. Sugie Source Type: research

Autoimmune & inflammatory nmd
Sporadic inclusion body myositis (sIBM) is a slowly progressive inflammatory myopathy developing in the elderly. Though there is distinct evidence of coexisting inflammatory and degenerative mechanisms in sIBM, its true pathogenesis remains unknown. On electromyography (EMG), both myogenic and neurogenic changes are often detected in sIBM; however, again, the mechanism remains unknown. Therefore, this study addressed this question pathologically. We extracted sIBM cases based upon the European Neuromuscular Centre criteria (2011) among patients who underwent a muscle biopsy from 2008 to 2020.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: N. Eura, T. Mano, A. Yamanaka, Y. Nishimori, T. Shiota, H. Nanaura, K. Sugie Source Type: research

Autoimmune & inflammatory nmd
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of progressive autoimmune muscle disorders of unknown etiology. It is postulated that mitochondrial dysfunction and protein aggregation in skeletal muscle lead to myofiber degeneration. However, molecular pathways that contribute to protein aggregation in skeletal muscle are not well defined. Here we have isolated membrane-bound organelles (e.g., nuclei, mitochondria, endoplasmic reticulum (ER), Golgi apparatus and plasma membrane) from muscle biopsies of normal (n=3), IIM (n=10), and mitochondrial myopathy (MM) (n=1) patients for global proteomic analysis ...
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Peterson, R. Zahedi, M. Alamr, V. Leclair, J. DiBattista, K. Nagaraju, M. Hudson Source Type: research

Autoimmune & inflammatory nmd
We report 2 patients with onset in the first years of life. Both received corticosteroids, immunoglobulins, methotrexate, hydroxychloroquine and tacrolimus. Patient 1 has clearly improved. Patient 2 was misdiagnosed as muscular dystrophy for 15 years; nevertheless, after 4 months of therapy there was mild motor improvement. Patient 1. A 6-year-old girl presented with weakness, but her parents could not recall the beginning.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: A. Camacho, D. Ghandour, J. De Inocencio, A. Hern ández Laín, O. Toldos, S. Vila, N. Núñez, R. Simón Source Type: research

Dmd – animal models
Duchenne muscular dystrophy (DMD) is the most frequent inherited human myopathy and one of the most devastating muscular dystrophies. Although dystrophin mutations represent the primary cause of DMD, it is the secondary processes involving persistent inflammation that likely exacerbate disease progression. Our group previously described the involvement of the NLRP3 inflammasome as having a major role in the deleterious inflammatory process worsening the dystrophic phenotype. Recently, MCC950 was discovered as an extremely potent, selective, small molecule inhibitors of NLRP3 and could thus be promising in muscle diseases w...
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: N. Dubuisson, M. Abou-Samra, M. Davis, L. Noel, C. Selvais, S. Brichard Source Type: research

Distal myopathies
GNE myopathy is an autosomal recessive adult-onset distal myopathy caused by pathogenic variants in GNE. We analyzed 358 Japanese GNE myopathy patients from 335 unrelated families. Clinical information was compared according to the Remudy database. We performed coverage analysis, whole genome sequencing, RNA sequencing and measured sialic acid concentration among p.D207V homozygotes. The frequent pathogenic variants were c.1807G>C (p.V603L), c.620A>T(p.D207V) and c.131G>C(p.C44S); which allele frequencies were 43.9%, 25.7% and 3.6%, respectively.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: W. Yoshioka, K. Sonehara, A. Iida, Y. Oya, T. Kurashige, M. Okubo, M. Ogawa, F. Matsuda, K. Higasa, M. Mori-Yoshimura, H. Nakamura, S. Hayashi, Y. Okada, S. Noguchi, I. Nishino Source Type: research

Distal myopathies
We recently identified dominant missense mutations in SMPX (small muscle protein X-linked) as a cause of a novel form of X-linked distal myopathy. The mutations lead to aggregation of the SMPX protein in vitro and in-patient muscle to a variable extent, but the downstream events leading to muscle disease are incompletely understood. While the role of SMPX in muscle has not been extensively characterized, previous studies have suggested functions in focal adhesions / costameres. Our studies in HeLa cells and myoblasts, however, revealed an unexpected localization of SMPX constructs to stress granules (SGs).
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Sarparanta, P. Jonson, H. Luque, A. Vihola, B. Udd Source Type: research

Distal myopathies
Despite recent advancements in next-generation DNA-sequencing technologies, at least 25% of myopathy patients remain without a genetic diagnosis. This represents a major burden to both the patient and the healthcare system. In order to increase diagnostic yield, we combined omic technologies to identify novel gene mutations for functional studies in a cohort of 17 patients with rare undiagnosed myopathies. Among those, we have identified a homozygous nonsense variant in the MLIP gene encoding muscular LMNA-interacting protein (MLIP) in a patient affected with an adult-onset distal myopathy.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Mezreani, F. Martin, S. Audet, V. Triassi, J. Charbonneau, E. Bareke, A. Laplante, B. Brais, E. O'Ferrall, J. Karamchandani, M. Tetreault Source Type: research