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Source: Neuromuscular Disorders
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Total 1514 results found since Jan 2013.
Coexisting Sporadic Late Onset Nemaline Myopathy and Amyloid Myopathy – Incidental or Related?
Sporadic late onset nemaline myopathy (SLONM) and amyloid myopathy are rare, acquired, treatable and frequently unrecognized myopathies which classically present in patients 50 years of age or older, with acute to subacute, rapidly progressive and severe proximal muscle weakness and atrophy [1-3]. The time from clinical presentation to diagnosis is often prolonged, which leads to a delay in treatment. The etiology of SLONM is unclear. Approximately half of all cases are associated with a monoclonal gammopathy and have a worse prognosis.
Source: Neuromuscular Disorders - March 26, 2022 Category: Neurology Authors: Orly Moshe-Lilie, George Banks, Eva Medvedova, Ahmad Masri, Nizar Chahin Tags: Case report Source Type: research
Coexisting sporadic late onset nemaline myopathy and AL amyloid myopathy – incidental or related?
Sporadic late onset nemaline myopathy (SLONM) and amyloid myopathy are rare, acquired, treatable and frequently unrecognized myopathies, which classically present in patients 50 years of age or older, with acute to subacute, rapidly progressive and severe proximal muscle weakness and atrophy [1 –3]. The time from clinical presentation to diagnosis is often prolonged, which leads to a delay in treatment. The etiology of SLONM is unclear. Approximately half of all cases are associated with a monoclonal gammopathy (MGUS) and have a worse prognosis than those withoput MGUS.
Source: Neuromuscular Disorders - March 26, 2022 Category: Neurology Authors: Orly Moshe-Lilie, George Banks, Eva Medvedova, Ahmad Masri, Nizar Chahin Source Type: research
Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotising myopathy
Immune-mediated necrotizing myopathy (IMNM) is an important group of idiopathic inflammatory myopathy (IIM) with distinct clinical, serological, and histopathological features. Some cases are associated with serum autoantibodies to signal recognition particle (SRP) and 3 ‑hydroxy-3-methylglutaryl-CoA reductase (HMGCR). The histopathological feature on muscle biopsy are randomly distributed muscle fibres at varying stages of necrosis and regeneration with minimal inflammatory cell infiltration [1].
Source: Neuromuscular Disorders - March 24, 2022 Category: Neurology Authors: Ignacio Javier Acosta, Monika Hofer, Stefen Brady Source Type: research
Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase immune-mediated necrotising myopathy
Immune-mediated necrotizing myopathy (IMNM) is an important group of idiopathic inflammatory myopathy (IIM) with distinct clinical, serological, and histopathological features. Some cases are associated with serum autoantibodies to signal recognition particle (SRP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). The histopathological feature on muscle biopsy are randomly distributed muscle fibres at varying stages of necrosis and regeneration with minimal inflammatory cell infiltration [1].
Source: Neuromuscular Disorders - March 24, 2022 Category: Neurology Authors: Ignacio Javier Acosta, Monika Hofer, Stefen Brady Tags: Short communication Source Type: research
Myoglobinopathy affecting facial and oropharyngeal muscles
Myoglobinopathy is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure [1]. The disease is caused by a mutation in the myoglobin gene (MB) [1]. Muscle pathology features associated with myoglobinopathy include characteristic sarcoplasmic bodies in skeletal and cardiac muscles [1]. Here, we present the details of a Japanese patient with myoglobinopathy. This is the first report of myoglobinopathy from Asia and provides new insight into the disease.
Source: Neuromuscular Disorders - February 24, 2022 Category: Neurology Authors: Yuka Hama, Madoka Mori-Yoshimura, Kazutaka Aizawa, Yasushi Oya, Hisayoshi Nakamura, Michio Inoue, Aritoshi Iida, Noriko Sato, Ikuya Nonaka, Ichizo Nishino, Yuji Takahashi Tags: Case report Source Type: research
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is the most common inherited myopathy in adults (prevalence:1 in every 2100 births) with a heterogeneous clinical presentation resulting in early mortality [1]. Grip myotonia, delayed relaxation following contraction, and the long finger flexor muscle weakness are among the earliest clinical signs of skeletal muscle involvement in DM1 [2]. Several promising therapeutic strategies are being developed for DM1. To this end, there is an immediate need for outcome measures that are meaningful to patients and have sufficient reliability and responsiveness in multicenter clinical trials.
Source: Neuromuscular Disorders - February 13, 2022 Category: Neurology Authors: Thomas C. Bulea, Amanda Guth, Nathan Sarkar, Andrew Gravunder, Bonnie Hodsdon, Kathleen Farrell, Leora E. Comis, Rebecca Parks, Hirity Shimellis, Vanessa Ndege, Pei-Shu Ho, Ami Mankodi Tags: Research paper Source Type: research
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
Twelve different causative genes have been associated with nemaline myopathies (NMs) thus far [1, 2]. A founder pathogenic variant (Glu180X) in exon 11 causing a stop codon in the troponin T type 1 (TNNT1) gene, encoding for the tropomyosin-binding subunit in the sarcomeric thin filament of slow fibres, was first recognized as the cause of recessively inherited NM in the Amish population [3]. Peculiar features included transient jaw and limbs tremor, severe progressive proximal and axial weakness with initial sparing of distal muscles, progressive contractures of upper and lower girdles, progressive pectus carinatum and ch...
Source: Neuromuscular Disorders - February 4, 2022 Category: Neurology Authors: Alberto A. Zambon, Fran çois Abel, Barry Linnane, Declan O'Rourke, Rahul Phadke, Caroline A Sewry, Anna Sarkozy, Adnan Manzur, Francesco Muntoni Tags: Research paper Source Type: research
No effect of triheptanoin in patients with phosphofructokinase deficiency
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. This deficiency is known as glycogen storage disease VII (GSD VII) [1]. The disease is autosomal recessively inherited, originally described in a Japanese family [1]. Onset of PFKD typically occurs during childhood. Patients usually present with myopathy, exercise intolerance, and myoglobinuria, but four different clinical presentations have been described: (a) a classical form, with symptoms as above (b) a severe infantile form, with hypotonia, progressive myopathy, cardiopathy, and respiratory failure, (c) a late onset form, with proximal my...
Source: Neuromuscular Disorders - February 4, 2022 Category: Neurology Authors: Daniel Emil Raaschou-Pedersen, Karen Lindhardt Madsen, Nicoline L økken, Jesper Helbo Storgaard, Ros Quinlivan, Pascal Laforêt, Allan Lund, Gerrit Van Hall, John Vissing, Mette Ørngreen Tags: Research paper Source Type: research
Identification of a novel mutation and genotype –phenotype relationship in MEGF10 myopathy
Mutations in MEGF10 are associated with an autosomal recessive disorder called early-onset myopathy, are flexia, respiratory distress, and dysphagia (EMARDD) [1]. Patients with EMARDD generally exhibit an infantile-onset severe phenotype with only fiber-size variation in the biopsied muscles. Recently, a mild variant phenotype of EMARDD (mvEMARDD) has been reported, with multiple minicores in the myofibers [2-6]. However, some patients with mvEMARDD showed no clear cores [2, 3]. Previous studies suggested the genotype –phenotype correlation but lacked statistical analysis [4, 7].
Source: Neuromuscular Disorders - January 26, 2022 Category: Neurology Authors: Kanako Fujii, Makito Hirano, Atsushi Terayama, Rino Inada, Yoshihiko Saito, Ichizo Nishino, Yoshitaka Nagai Tags: Research paper Source Type: research
Upper body involvement in GNE myopathy assessed by muscle imaging
GNE myopathy (GNEM, OMIM # 605820), previously known as distal myopathy with rimmed vacuoles, Nonaka's myopathy or hereditary inclusion body myopathy, is an autosomal recessive muscle disorder caused by mutations in the GNE gene[1 –4]. GNE encodes UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, the rate-limiting enzyme of sialic acid biosynthesis. Although the exact pathophysiology of GNEM remains unknown, one hypothesis is that the mutations in GNE can cause defective sialylation of several myofiber prote ins finally leading to muscle damage [5–8].
Source: Neuromuscular Disorders - January 11, 2022 Category: Neurology Authors: E. Torchia, M. Lucchini, S. Bortolani, M. Monforte, M. Garibaldi, M. Mirabella, T. Tartaglione, E. Ricci, G. Tasca Tags: Research paper Source Type: research
TNNT1 myopathy with novel compound heterozygous mutations
Nemaline myopathies are clinically and genetically heterogeneous disorders characterized by muscle weakness and the presence of nemaline bodies in skeletal muscle fibers [1]. Eleven subtypes of nemaline myopathies are currently listed in Online Mendelian Inheritance in Man (https://omim.org/), each caused by mutations in one of 11 different genes. The TNNT1 gene encodes the slow skeletal muscle troponin T and, if mutated, causes nemaline myopathy 5 (MIM# 605355) which was initially identified among the Old Order Amish [2].
Source: Neuromuscular Disorders - December 15, 2021 Category: Neurology Authors: Seungbok Lee, Juneyong Eum, Soojin Park, Seoyoung Ki, Byung Joon Hwang, Yun Kee, Jong Hee Chae Tags: Research Paper Source Type: research
Unusual Cases of Anti-SRP Necrotizing Myopathy with Predominant Distal Leg Weakness and Atrophy
Anti-signal recognition particle (SRP) necrotizing myopathy is characterized by a subacute or chronic course. It usually causes severe and progressive muscle weakness with atrophy. The distribution of weakness is usually symmetric, proximal-dominant, affecting lower more than upper limbs [1, 2, 3]. The recognized phenotypic spectrum of this condition continues to expand and includes cases with asymmetric patterns of weakness, as well as slow progression of symptoms for more than 12 months, which can mimic certain types of muscular dystrophy [4].
Source: Neuromuscular Disorders - November 19, 2021 Category: Neurology Authors: Orly Moshe-Lilie, Daniela Ghetie, George Banks, Barry G. Hansford, Nizar Chahin Tags: Case report Source Type: research
Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy
Mycosis fungoides (MF) is the most common form of primary cutaneous T-cell lymphoma. Classic MF usually follows a rather benign course over many years or decades, rarely ever leading to fatal extracutaneous organ involvement. Three variants have been distinguished from classic MF: pagetoid reticulosis, granulomatous slack skin and folliculotropic MF [1]. The latter is characterized by a tropism of neoplastic lymphocytes to the hair follicle and a somewhat poorer prognosis than classic MF [2 –4].
Source: Neuromuscular Disorders - November 19, 2021 Category: Neurology Authors: Miriam Hiebeler, Markus Reinholz, Michael Flaig, Christian Schmidt, Benedikt Schoser, Thomas Herzinger, Angela Abicht, Peter Reilich Tags: Case Report Source Type: research
Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy
Immune-mediated necrotizing myopathy (IMNM) is a subgroup of inflammatory myopathy, characterized by progressive proximal muscle weakness and very high serum creatine kinase (CK) levels. A histopathological examination typically shows abundant necrotic and regenerating myofibers, and scarce inflammatory cell infiltrates. Autoantibodies against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) [1] and signal recognition particle (SRP) [2] are closely related to IMNM, which are subclassified into anti-HMGCR myopathy, anti-SRP myopathy, and antibody-negative IMNM.
Source: Neuromuscular Disorders - October 28, 2021 Category: Neurology Authors: Akatsuki Kubota, Jun Shimizu, Atsushi Unuma, Meiko Maeda, Yuichiro Shirota, Masato Kadoya, Naohiro Uchio, Yoshio Sakiyama, Noritoshi Arai, Yasushi Shiio, Yoshikazu Uesaka, Hideji Hashida, Nobue K. Iwata, Jun Goto, Ran Nakashima, Tsuneyo Mimori, Tatsushi T Source Type: research
Idiopathic eosinophilic myositis: a systematic literature review
The term “eosinophilic myositis” (EM) was introduced in the 1950s by veterinary physicians from reports of eosinophilic infiltrates within dog masticator muscles. The first description in humans dates back to 1977 with Layzer et al. [1], and while the other inflammatory myopathies (dermatomyositis, inclu sion body myositis, antisynthetase syndrome associated myositis, immune-mediated necrotizing myopathy) are precisely characterized [2], EM remain poorly described.
Source: Neuromuscular Disorders - October 14, 2021 Category: Neurology Authors: C écile Fermon, François-Jérôme Authier, Laure Gallay Source Type: research
