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Total 442 results found since Jan 2013.

What's in the Literature?.
In this issue, we review reports of a congenital myasthenic syndrome with agrin mutations, a distal myopathy phenotype, and presynaptic neurophysiology. Regarding myasthenia gravis, we address articles on health-related quality of life and therapeutic goals, the risk of osteoporosis, and thymic pathology and the possible role of positron emission tomography in detecting active metabolism when planning thymectomy. Topics covered in amyotrophic sclerosis include an increased risk of executive dysfunction in women, diagnostic delay, biomarkers including neurofilament and creatinine, and magnetic resonance imaging (gray and wh...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Literature Review: PDF Only Source Type: research

What's in the Literature?
AbstractIn this issue, we review reports of a congenital myasthenic syndrome with agrin mutations, a distal myopathy phenotype, and presynaptic neurophysiology. Regarding myasthenia gravis, we address articles on health-related quality of life and therapeutic goals, the risk of osteoporosis, and thymic pathology and the possible role of positron emission tomography in detecting active metabolism when planning thymectomy. Topics covered in amyotrophic sclerosis include an increased risk of executive dysfunction in women, diagnostic delay, biomarkers including neurofilament and creatinine, and magnetic resonance imaging (gra...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2014 Category: Neurology Tags: Literature Review Source Type: research

Should patients with asymptomatic Pompe disease be treated? A nationwide study in France
This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - March 18, 2015 Category: Internal Medicine Authors: Andoni Echaniz‐Laguna, Robert‐Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort‐Campana, Jean Pouget, Pascal Laforêt Tags: Research Article Source Type: research

Whole-body MRI in adult inflammatory myopathies: Do we need imaging of the trunk?
Conclusions rWB-MRI showed diagnostic accuracy similar to WB-MRI for inflammatory myopathy at markedly reduced overall acquisition time. Key Points • Whole-body MRI (WB-MRI) is a time-consuming imaging modality. • A shortened MRI protocol was evaluated for inflammatory myopathies. • The proposed protocol showed diagnostic accuracy similar to WB-MRI.
Source: European Radiology - November 7, 2015 Category: Radiology Source Type: research

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
DiscussionCollectively, our findings expand our knowledge of the genetic spectrum of RVMs in China and suggest that muscle imaging should be an integral part of assisting genetic testing and avoiding misdiagnosis in the diagnostic workup of RVM.
Source: Frontiers in Neurology - April 28, 2023 Category: Neurology Source Type: research

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation
This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Cav1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis.
Source: Brain - December 11, 2013 Category: Neurology Authors: Fan, C., Lehmann-Horn, F., Weber, M.-A., Bednarz, M., Groome, J. R., Jonsson, M. K. B., Jurkat-Rott, K. Tags: Original Articles Source Type: research

Cervicobrachial Polymyositis
Conclusions:Cervicobrachial polymyositis presents with predominant or isolated proximal upper limb and neck weakness. It has marked female preponderance and affects neck flexors and extensors and trapezius and deltoid muscles severely. Wrist and finger extensors are also weakened. In a proportion of patients, it is associated with serological markers of autoimmune disorders and interstitial lung disease. In addition to serum creatine kinase, electromyography, and muscle biopsy, magnetic resonance imaging forms a noninvasive adjunct test in the diagnostic process. Because of the pattern of weakness, cervicobrachial polymyos...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Original Article Source Type: research

Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee
Publication date: Available online 10 February 2015 Source:Joint Bone Spine Author(s): Maeva Ferrari , Karine Louati , Anne Miquel , Anthony Behin , Olivier Benveniste , Jérémie Sellam While rapidly destructive OA is more recognized in hip, we report the case of a 50-year-old woman who presented a rapid chondrolysis in the patellofemoral joint in a context of rapid loss of muscular strength. She had arthralgia, myalgia and proximal muscular deficit of the limbs. Creatine phospho kinase level was elevated and electromyogram exam showed a myogenic syndrome. Neither immune nor visceral disease was highlighted. As we suspe...
Source: Joint Bone Spine - February 13, 2015 Category: Orthopaedics Source Type: research

Muscle Magnetic Resonance Imaging in Inclusion Body Myositis: Presentation of 12 Cases (P4.089)
Conclusions: MRI pattern in IBM in this study is characterized by higher affectation of lateral and internal vastus, semimembranosus, semitendinosus and medial gastrocnemius. Preservation of Sartorius and gracillis muscles is also remarkable, as mild or no affectation of pelvic muscles. Although this pattern was described in other series it should be validated in further studies.Disclosure: Dr. Bettini has nothing to disclose. Dr. araoz has nothing to disclose. Dr. rugiero has nothing to disclose. Dr. Chaves has nothing to disclose. Dr. genco has nothing to disclose. Dr. Christiansen has nothing to disclose. Dr. rasumoff h...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Bettini, M., Araoz, M., Rugiero, M., Chaves, M., Genco, D., Christiansen, S., Rasumoff, A., Cristiano, E. Tags: Imaging Studies in Muscle Diseases and Others Source Type: research

The role of magnetic resonance imaging techniques in evaluation and management of the idiopathic inflammatory myopathies
The idiopathic inflammatory myopathies (IIMs) are a group of heterogeneous systemic autoimmune conditions characterised by muscle inflammation and a host of extramuscular manifestations. The term encompasses sporadic inclusion body myositis (IBM), polymyositis (PM), juvenile dermatomyositis (JDM), adult dermatomyositis (DM), necrotising myopathy (NM) of which a subset is autoimmune (necrotising autoimmune myopathy; NAM), and overlap myositis, where the muscle disorder is associated with another connective tissue disease (usually scleroderma or mixed connective tissue disease).
Source: Seminars in Arthritis and Rheumatism - November 4, 2016 Category: Rheumatology Authors: Jessica Day, Sandy Patel, Vidya Limaye Source Type: research

Novel mutation in MYH7 gene causing scapuloperoneal syndrome (P4.122)
Conclusions:We present the first Portuguese case of MYH7 neuromuscular disease. The histopathological features are of utmost utility to suspect MYH7 gene mutation.Disclosure: Dr. Varela has nothing to disclose. Dr. Brás has nothing to disclose. Dr. Rebelo has nothing to disclose. Dr. Matos has nothing to disclose. Dr. Geraldo has nothing to disclose. Dr. Lourenço has nothing to disclose. Dr. Lourenço has nothing to disclose. Dr. Lourenço has nothing to disclose. Dr. Lourenço has nothing to disclose. Dr. Negrao has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Varela, R., Bras, A., Rebelo, O., Matos, A., Geraldo, A., Lourenco, M., Laranjeiro, F., Marmiesse, A., Marques, C., Negrao, L. Tags: Neuromuscular and Clinical Neurophysiology (EMG): Motor Neuron Disease II Source Type: research

Muscle magnetic resonance imaging in inclusion body myositis: presentation of 16 cases
Magnetic Resonance Imaging (MRI) has been emerged as a complementary tool in diagnosis and follow up of patients with myopathy. Inclusion Body Myositis (IBM) is the most common acquired myopathy in patients older than 50 years old. It presents with a characteristic pattern of muscle affectation. Despite this, in some patients the diagnosis is not always easy or straightforward. To describe muscle MRI characteristics or a particular pattern in patients with diagnosis of IBM. Patients with diagnosis of IBM according the European Group criteria were included.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: M. Rugiero, M. Bettini, M. Araoz, N. Genco, M. Chaves, S. Christiansen, A. Rassumoff Source Type: research

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports
ConclusionsTo the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
Source: Journal of Medical Case Reports - August 28, 2018 Category: General Medicine Source Type: research

Myofibrillar and distal myopathies
We describe a 32-year-old woman who suffered GNE myopathy, with symptoms presenting in distant muscles of lower limbs and spreading to her legs. The patient's serum level of creatine kinase was mildly increased. Mild myogenic changes in tibialis muscles in muscle electromyographic and moderate fatty infiltration in magnetic resonance imaging were detected.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: J. Miao, X. Liu, F. Su, X. Wei, Z. Kang, Y. Gao, X. Yu Source Type: research

Recurrent diabetic myonecrosis –An under-diagnosed cause of acute painful swollen limb in long standing diabetics
Publication date: Available online 13 September 2018Source: Annals of Medicine and SurgeryAuthor(s): Sonali Gupta, Pradeep Goyal, Pranav Sharma, Priti Soin, Puneet S. KocharAbstractDiabetic myonecrosis (DMN) is an under-diagnosed complication of long-standing poorly controlled diabetes mellitus. It presents as abrupt pain and swelling of the extremity, mostly lower limbs. Diagnosis is often delayed as it mimics a number of clinical entities such as deep vein thrombosis (DVT), cellulitis, necrotizing fasciitis and malignancy. Failure to properly identify this condition can result in increased morbidity through exposure to u...
Source: Annals of Medicine and Surgery - September 13, 2018 Category: General Medicine Source Type: research