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Myopathy emg

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https://www.readbyqxmd.com/read/28969510/acute-mitochondrial-myopathy-with-respiratory-insufficiency-and-motor-axonal-polyneuropathy
#1
Ying Zhou, Jian-Hua Yi, Li Liu, Xiaoping Wang, Liang Dong, Ai-Lian Du
Background Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. Aims To reveal the clinical, pathological, and molecular characteristics of a life-threatening mitochondrial myopathy (MM). Methods Muscle biopsy and enzyme staining were performed in skeletal muscles. Mitochondrial DNA sequencing was analyzed and heteroplasmy were quantified by pyrosequencing. Results All three patients had tachycardia, acute lactic acidosis, dyspnea, and sudden severe muscle weakness...
October 2, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28966227/childhood-onset-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-anti-hmgcr-necrotizing-myopathy-needs-to-be-distinguished-from-muscular-dystrophy-a-case-study
#2
Yuka Hama, Madoka Mori-Yoshimura, Hirofumi Komaki, Shigeaki Suzuki, Hitoshi Kohsaka, Ichizo Nishino, Yuji Takahashi
A 24-year-old woman visited our hospital with a complaint of walking disability. She had no family history of consanguineous marriage, and her developmental history was unremarkable, with good physical performance just before the onset. At the age of 13, she developed difficulty in walking and visited a pediatrician. Her serum CK level was 10,000 IU/l and she was diagnosed with muscular dystrophy by muscle biopsy. At the age of 16, she became wheelchair dependent and was admitted to our hospital. Physical examination revealed diffuse muscle atrophy and proximal weakness, with no calf hypertrophy or selectivity of muscle involvement...
September 30, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28960041/clevudine-induced-mitochondrial-myopathy
#3
Soo Hyun Park, Kyung Seok Park, Nam Hee Kim, Joong Yang Cho, Moon Soo Koh, Jin Ho Lee
Clevudine was approved as an antiviral agent for hepatitis B virus, which showed marked, rapid inhibition of virus replication without significant toxicity. However, several studies have reported myopathy associated with clevudine therapy. Also, we experienced seven patients who suffered from myopathy during clevudine therapy. To characterize clevudine-induced myopathy, we collected previously reported cases of clevudine myopathy and analyzed all the cases including our cases. We searched electronic databases that were published in English or Korean using PubMed and KoreaMed...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28940338/inpp5k-variant-causes-autosomal-recessive-congenital-cataract-in-a-pakistani-family
#4
S Yousaf, S A Sheikh, S Riazuddin, A M Waryah, Z M Ahmed
Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149T>C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5-bisphosphate, and PtdIns 3,4,5-trisphosphate. Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract...
September 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#5
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28844760/template-operated-mup-analysis-is-not-accurate-in-the-diagnosis-of-myopathic-or-neuropathic-changes-in-the-diaphragm
#6
Lea Leonardis, Simon Podnar
OBJECTIVES: The aim of this study was to evaluate the quantitative motor unit potential (MUP) analysis in the diagnosis of myopathy and neuropathy of the diaphragm. METHODS: Diaphragm template-operated quantitative EMG were performed in 30 patients with myotonic dystrophy type 1 (DM1), 17 with myotonic dystrophy type 2 (DM2) and 40 with amyotrophic lateral sclerosis (ALS). RESULTS: Low MUP amplitude precluded MUP analysis in 21% of DM1 patients...
August 24, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28832912/screening-for-late-onset-pompe-disease-in-western-denmark
#7
J S Hansen, E G Pedersen, D Gaist, F W Bach, O J Vilholm, B Sandal, L Weitemeyer, K Nielsen, F E Schlesinger, N Preisler, J Vissing, H Andersen
OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Thus, patients with a diagnosis of unspecified myopathy were screened for LOPD...
August 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28807458/caveolin-3-deficiency-myopathy-associated-with-dyslipidemia-treatment-challenges-and-possible-pathophysiological-association
#8
Daiana Ibarretxe, Joan Pellejà, Nicolau Ortiz, Luis Masana
We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28776362/acute-heart-failure-and-rhabdomyolysis-a-clue-for-the-diagnosis-of-polymyositis-with-cardiac-involvement
#9
P Pinto-Lopes, L Carneiro-Leão, R Morais, J Pinheiro, A Vieira Lopes, P Bettencourt
Polymyositis is an idiopathic inflammatory myopathy, characterized by proximal muscle weakness and sometimes extramuscular manifestations. We report the case of a 51-year-old male, with history of complete heart block, which required pacemaker implantation, and subsequently heart failure, presenting to the emergency department with worsening of dyspnea and peripheral edema. He was admitted to the Internal Medicine ward with acute heart failure and started on diuretic therapy. During hospitalization, he was discovered to have marked rhabdomyolysis...
August 3, 2017: Reumatismo
https://www.readbyqxmd.com/read/28717078/dermatomyositis-induced-by-hepatitis-b-virus-related-hepatocellular-carcinoma-a-case-report-and-review-of-the-literature
#10
Jen-Wei Chou, Yin-Lan Lin, Ken-Sheng Cheng, Po-Yuan Wu, Teressa Reanne Ju
Dermatomyositis or polymyositis as a paraneoplastic syndrome of hepatocellular carcinoma (HCC) is an uncommon event. Few cases have been reported in the literature. We herein report the case of a 55-year-old man with chronic hepatitis B and alcoholism who presented with skin rash. Abdominal computed tomography revealed multiple hypervascular liver tumors consistent with HCC. He subsequently developed dysphagia with proximal limb weakness. Laboratory tests and electromyography demonstrated inflammatory myopathy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28642454/inclusion-body-myositis-a-case-presenting-with-respiratory-failure-and-autopsy-findings-leading-to-the-hypothesis-of-a-paraneoplastic-cause
#11
Christopher Dardis, Ariel Antezana, Kurenai Tanji, Paul J Maccabee
BACKGROUND Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome...
June 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#12
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#13
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544788/fibrosing-myopathy-in-systemic-sclerosis-associates-with-higher-mortality
#14
Julie J Paik, Fredrick M Wigley, Ami A Shah, Andrea M Corse, Livia Casciola-Rosen, Laura K Hummers, Andrew L Mammen
OBJECTIVE: To determine if a unique subtype of scleroderma muscle disease exists by comparing the clinical features of systemic sclerosis (SSc) patients with predominant fibrosis on muscle biopsy to those with inflammatory muscle histopathology. METHODS: This retrospective, cross-sectional study included SSc patients with muscle weakness and an available muscle biopsy. Biopsies with fibrosis but without inflammation/necrosis were designated as "fibrosing myopathy" and those with inflammation and/or necrosis were assigned a category of "inflammatory myopathy"...
May 23, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28538253/immune-myopathy-with-perimysial-pathology-associated-with-interstitial-lung-disease-and-anti-ej-antibodies
#15
Patrick M Kwon, Lan Zhou, Rajeev Motiwala, Leslie D Kerr, Susan C Shin
OBJECTIVES: We report a case of immune myopathy with perimysial pathology associated with anti-glycyl-transfer RNA synthetase (anti-EJ) antibody and an excellent treatment response. METHODS: Chart review. RESULTS: A 36-year-old woman presented with 3 months of fatigue, weight loss, progressive weakness in a scapuloperoneal distribution, and dysphagia. Nerve conduction studies, electromyography, and ultrasound suggested an irritable myopathy...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28512504/a-case-report-of-drug-induced-myopathy-involving-extraocular-muscles-after-combination-therapy-with-tremelimumab-and-durvalumab-for-non-small-cell-lung-cancer
#16
William Carrera, Brandon J Baartman, Gregory Kosmorsky
Recently developed anti-tumour therapies targeting immune checkpoints include tremelimumab and durvalumab. These agents have incompletely characterised side effect profiles. The authors report a 68-year-old man treated for non-small cell lung cancer (NSCLC) with a combination of tremelimumab and durvalumab. After treatment he developed diplopia, ptosis, fatigue, weakness, and an inflammatory myopathy affecting the extraocular muscles requiring hospitalisation. Electromyography (EMG) testing and muscle biopsy suggested inflammatory myopathy without sign of myasthenia...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#17
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488622/family-with-ehlers-danlos-syndrome-combined-classic-and-vascular-type-with-rare-presentation-of-progressive-myopathy-and-unusual-association-of-severe-facial-and-trigeminal-motor-weakness
#18
A Nalini, N Devaraddi, N Gayathri, Chandrajit Prasad, V Preethish-Kumar, K Polavarapu, S Shantanu
We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers-Danlos syndrome (EDS) [classic and vascular type] and progressive myopathy as the primary manifestation. A 35-year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. She had a history of recurrent jaw dislocation, easy bruising with hyperpigmentation, hyperextensibility of joints, translucent skin, and papyraceous scars...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28469499/a-case-of-statin-associated-autoimmune-myopathy
#19
Alexander J Sweidan, Anthony Leung, Cassandra J Kaiser, Sarah J Strube, Andrei N Dokukin, Stephen Romansky, Sassan Farjami
A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the hospital due to concern for statin myopathy. His weakness continued to progress while in acute rehabilitation, along with the development of dysphagia requiring placement of gastrostomy tube and respiratory failure requiring tracheostomy. Corticosteroids and intravenous immunoglobulin were administered without response...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28457006/quantitative-electromyography-in-ambulatory-boys-with-duchenne-muscular-dystrophy
#20
Sumit Verma, Jenny Lin, Curtis Travers, Courtney Mccracken, Durga Shah
INTRODUCTION: This study's objective was to evaluate quantitative electromyography (QEMG) using multiple-motor-unit (multi-MUP) analysis in Duchenne muscular dystrophy (DMD). METHODS: Ambulatory DMD boys, aged 5-15 years, were evaluated with QEMG at 6-month intervals over 14 months. EMG was performed in the right biceps brachii (BB) and tibialis anterior (TA) muscles. Normative QEMG data were obtained from age-matched healthy boys. Wilcoxon signed-rank tests were performed...
April 29, 2017: Muscle & Nerve
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