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Myopathy emg

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https://www.readbyqxmd.com/read/29934119/myotonia-congenita-in-a-labrador-retriever-with-truncated-clcn1
#1
Pia R Quitt, Marjo K Hytönen, Kaspar Matiasek, Marco Rosati, Andrea Fischer, Hannes Lohi
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds. Other clinical signs were excitement-induced upper airway stridor and oropharyngeal dysphagia. Myotonia congenita was diagnosed based on clinical signs, abundant myotonic discharges on electromyography and exclusion of structural myopathies on histology...
June 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29865091/current-classification-and-management-of-inflammatory-myopathies
#2
Jens Schmidt
Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with myositis (overlap myositis, OM) including anti-synthetase syndrome (ASS), and inclusion body myositis (IBM). Whereas DM occurs in children and adults, all other forms of myositis mostly develop in middle aged individuals. Apart from a slowly progressive, chronic disease course in IBM, patients with myositis typically present with a subacute onset of weakness of arms and legs, often associated with pain and clearly elevated creatine kinase in the serum...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29858533/de-novo-mutations-in-flnc-leading-to-early-onset-restrictive-cardiomyopathy-and-congenital-myopathy
#3
Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexandr Khudiakov, Svetlana Tarnovskaya, Jiao Liu, Alexey Sergushichev, Sergey Kazakov, Dmitrij Frishman, Natalia Smolina, Tatiana Pervunina, John Jorholt, Gunnar Sjoberg, Tatiana Vershinina, Dmitriy Rudenko, Anders Arner, Thomas Sejersen, Anna Lindstrand, Anna Kostareva
Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies. Here we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C > T, p.A1186V, rs1114167361 in three probands and c.[3547G > C; 3548C > T], p.A1183L, rs1131692185 in one proband). In all cases, concurrent myopathy was confirmed by neurological examination, electromyography, and morphological studies...
June 1, 2018: Human Mutation
https://www.readbyqxmd.com/read/29720800/necrotizing-autoimmune-myopathy-clinicopathologic-study-from-a-single-tertiary-care-centre
#4
Sobiya Mahnaz Ayesha, A K Meena, Navatha Vangala, Liza Rajasekhar, Subhash Kaul, Rupam Borgahain, Megha S Uppin
Background: Idiopathic inflammatory myopathies (IIMs) are a group of chronic, autoimmune disorders which include a new entity, necrotizing autoimmune myopathy (NAM). NAM lacks inflammation and presents with markedly elevated creatinine phosphokinase (CPK) levels. It is associated with connective tissue diseases (CTDs), statin use, malignancies, and most cases are idiopathic. Objectives: The objectives of this study are to describe the clinicopathologic features in muscle biopsy-proven cases of NAM...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29669460/current-diagnosis-and-treatment-of-polymyositis-and-dermatomyositis
#5
Hirokazu Sasaki, Hitoshi Kohsaka
Idiopathic inflammatory myopathies (IIMs) are heterogeneous disorders that affect the skeletal muscles. Polymyositis, dermatomyositis, and inclusion body myositis are major IIM subsets. Immune-mediated necrotizing myopathy became recognized as a potentially new IIM subset. Since the new classification criteria published by the International Myositis Classification Criteria Project have higher sensitivity and specificity for IIM classification and subclassification than the previous criteria, they should help precise diagnosis...
May 9, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29628025/focal-myositis-with-neurogenic-atrophy-case-report-and-review-of-the-literature
#6
Diogo Fitas, Ana Monteiro, Fernando Silveira, Lígia Castro, Stirling Carpenter, Goreti Nadais
Focal myositis is a very rare form of inflammatory myopathy, with unknown etiology. We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. He had otherwise no weakness complaints. Physical and neurological examinations were otherwise normal. Creatine kinase and aldolase levels were increased (1,009 U/L and 11.9 U/L, respectively); autoimmunity panel was negative. MRI showed diffuse edema and gadolinium enhancement of muscles innervated by the median nerve...
April 9, 2018: Clinical Neuropathology
https://www.readbyqxmd.com/read/29623846/immune-mediated-necrotizing-myopathy-where-do-we-stand
#7
Abdel Gaffar A Mohammed, Ayanda Gcelu, Farzana Moosajee, Stella Botha, Ali Asgar Kalla
Immune-mediated necrotizing myopathies (IMNMs) are a group of acquired autoimmune muscle disorders that have been recently defined. They are characterized by proximal muscle weakness, high levels of creatinine kinase, and myopathic findings on electromyogram (EMG). Muscle biopsy in IMNM differentiates it from the other subgroups of idiopathic inflammatory myositis (IIM) by the presence of myofibre necrosis and prominent regeneration without substantial lymphocytic inflammatory infiltrates. Anti-signal recognition particle (SRP) and anti-3hydroxy-3 methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies were found in two thirds of IMNM patients...
April 5, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29604150/neurophysiological-study-of-critical-illness-polyneuropathy-and-myopathy-in-mechanically-ventilated-children-additional-aspects-in-paediatric-critical-illness-comorbidities
#8
A Thabet Mahmoud, M A M Tawfik, S A Abd El Naby, W M M Abo El Fotoh, N Y Saleh, N M S Abd El Hady
BACKGROUND AND PURPOSE: Critical illness polyneuropathy and myopathy (CIP/CIM) is being increasingly recognized as a significant clinical problem in critically ill children especially if they have spent long periods in the intensive care unit. So the aim was to determine the frequency of CIP/CIM amongst mechanically ventilated children and to analyse the associated risk factors and drawbacks frequently encountered in this cohort. METHODS: The study included 105 patients admitted to the paediatric intensive care unit who underwent mechanical ventilation for ≥7 days...
March 31, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29595280/-idiopathic-inflammatory-myopathies
#9
Jiří Vencovský
Idiopathic inflammatory myopathies form a heterogeneous group of acquired inflammatory diseases afflicting striated muscles. The disease is frequently accompanied by systemic and organ involvement. Dermatomyositis, polymyositis, cancer associated myositis, immune mediated necrotizing myopathy, myositis in overlap syndromes, juvenile myositis and inclusion body myositis are the most frequently encountered subtypes. The basic manifestation is usually painless muscle weakness brought about by inflammation and by other immune changes at the impacted muscles...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29571300/erythroderma-and-extensive-poikiloderma-a-rare-initial-presentation-of-dermatomyositis-a-case-report
#10
H M M T B Herath, B S D P Keragala, S P Pahalagamage, G H C C Janappriya, Aruna Kulatunga, C N Gunasekera
BACKGROUND: Dermatomyositis is a humoral-mediated inflammatory myopathy with symmetrical proximal muscle weakness and dermatological manifestations such as Gottron's papules, heliotrope rash, periungual abnormalities, and flagellate erythema. Erythroderma is a severe and potentially life-threatening dermatological condition with diffuse erythema and scaling involving more than 90% of the skin surface area. Poikiloderma vasculare atrophicans refers to mottled hyperpigmentation and hypopigmentation of the skin with in-between telangiectases and areas of atrophy and is considered a variant of mycosis fungoides...
March 24, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29491336/-dropped-head-syndrome-as-first-manifestation-of-primary-hyperparathyroid-myopathy
#11
Kiyobumi Ota, Sayo Koseki, Kenji Ikegami, Iichiroh Onishi, Hiyoryuki Tomimitsu, Shuzo Shintani
75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. No fibrillation potentials or positive sharp waves were seen. Biopsy of deltoid muscle was normal. Laboratory studies showed elevated levels of serum calcium (11.8 mg/dl, upper limit of normal 10...
March 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29427184/polyneuropathy-and-myopathy-in-beta-thalassemia-major-patients
#12
P Nemtsas, M Arnaoutoglou, V Perifanis, E Koutsouraki, G Spanos, N Arnaoutoglou, P Chalkia, D Pantelidou, A Orologas
The thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major (β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease...
May 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29355995/dysphagia-secondary-to-focal-inflammatory-myopathy-and-consequent-dorsiflexion-of-the-tongue-in-a-dog
#13
P C Strøm, S L Marks, J A Rivera, G D Shelton
A 14-month-old female pitbull terrier mix was presented for evaluation of dysphagia of 8 months' duration secondary to intermittent dorsiflexion of the tongue apex. Physical and neurological examinations were unremarkable with the exception of the dorsiflexed tongue. Serum creatine kinase activity was increased (703 IU/L, reference interval: 55 to 257 IU/L), and electromyography of the tongue demonstrated areas of fibrillation potentials. Histopathology of the tongue showed myopathic changes with excessive variability in myofibre size and endomysial fibrosis...
January 22, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29310344/polymyositis-with-elevated-serum-igg4-levels-and-abundant-igg4-plasma-cell-infiltration-a-case-report-and-literature-review
#14
REVIEW
Ryusuke Anan, Mitsuhiro Akiyama, Yuko Kaneko, Jun Kikuchi, Kazuko Suzuki, Shiro Matsubara, Tsutomu Takeuchi
INTRODUCTION: Polymyositis (PM) is a type of autoimmune, inflammatory myopathy. IgG4-related disease (IgG4-RD) is a recently recognized disease entity characterized by elevated serum IgG4 levels and IgG4 plasma-cell infiltration of various organs. However, several reports have described cases of other diseases that present with those features, suggesting the importance of careful differential diagnosis. Herein, we report the first case of PM with elevated serum IgG4 levels and IgG4 plasma cells in the muscles, mimicking IgG4-RD...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#15
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29178655/ryr1-causing-distal-myopathy
#16
Ruple S Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone
BACKGROUND: Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. METHODS: We report a case of a patient presenting with childhood onset hand stiffness and adult onset progressive hand weakness and jaw contractures discovered to have two variants in the RYR1 gene...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29173429/intraoperative-neurophysiologic-monitoring-for-degenerative-cervical-myelopathy
#17
REVIEW
Masaaki Takeda, Satoshi Yamaguchi, Takafumi Mitsuhara, Masaru Abiko, Kaoru Kurisu
Multimodal intraoperative neurophysiologic monitoring is a reliable tool for detecting intraoperative spine injury and is recommended during surgery for degenerative cervical myopathy (DCM). Somatosensory evoked potential (SEP) can be used to monitor spine and peripheral nerve injury during positioning in surgery for DCM. Compensation technique for transcranial evoked muscle action potentials (tcMEPs) should be adopted in intraoperative monitoring during surgery for DCM. Free-running electromyography is a useful real-time monitoring add-on modality in addition to SEP and tcMEP...
January 2018: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/29143179/diagnostic-work-up-in-steroid-myopathy
#18
REVIEW
Marco Alessandro Minetto, Valentina D'Angelo, Emanuela Arvat, Santosh Kesari
INTRODUCTION: Steroid myopathy is a well-known sign of endogenous Cushing's syndrome as well as a side effect of glucocorticoid administration. The clinical finding of muscle weakness and the clinical inspection of the muscle size are the most commonly used diagnostic tools, sometimes in combination with needle electromyography, but there are no means to detect the myopathy before the appearance of clinical or electrodiagnostic signs. Until now, no guidelines have been produced for a disease-specific evaluation of muscle impairment in patients with Cushing's syndrome...
May 2018: Endocrine
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#19
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as without apparent facial muscle weakness on neurological examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by molecular genetic analysis based on pulsed-field gel electrophoresis. The clinical assessments and methylation analysis were noted...
February 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29043378/-neurogenic-myopathies-and-imaging-of-muscle-denervation
#20
REVIEW
M Wolf, C Wolf, M-A Weber
CLINICAL ISSUE: Neurogenic myopathies are primary diseases of the nervous system, which secondarily result in denervation of the target musculature. The spectrum of potential causes is manifold ranging from acute traumatic injuries and chronic compression to neurodegenerative, inflammatory, metabolic and neoplastic processes. STANDARD DIAGNOSTIC METHODS: The medical history, clinical neurological examination, and electrophysiological tests including electromyography and nerve conduction studies are crucial in diagnosing neuropathic myopathies...
December 2017: Der Radiologe
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