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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/28827491/pyridostigmine-induced-bradycardia-in-patient-with-musk-ab-positive-myasthenia-gravis-and-alopecia-universalis
#1
Ferdos Nazari, Siamak Abdi
No abstract text is available yet for this article.
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827490/triple-furrowed-atrophic-tongue-of-myasthenia-gravis
#2
Nathan P Young, Eric J Sorenson, Margherita Milone, C Michel Harper
The authors present a case and image of a patient with refractory tongue weakness and characteristic triple furrowed pattern of atrophy due to autoimmune myasthenia gravis.
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827489/pyridoxine-toxicity-small-fiber-neuropathy-with-dysautonomia-a-case-report
#3
Rae Bacharach, Max Lowden, Aiesha Ahmed
Pyridoxine (vitamin B6) toxicity is a well-known cause of primary sensory, length-dependent, axonal polyneuropathy. Although sensory symptoms predominate, autonomic symptoms have also been reported in some cases. To date, there is no objective evidence of autonomic dysfunction reported in the literature. We present the case of a 41-year-old woman with 2 years of progressive burning pain, numbness, tingling, and weakness in a stocking-glove distribution who was found to have severe pyridoxine toxicity. Concurrent presence of large and small fiber nerve dysfunction was noted in the form of abnormal electromyography/nerve conduction study demonstrating a chronic sensory polyneuropathy and autonomic testing demonstrating abnormal responses to quantitative sweat testing and cardiovagal function testing...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827488/bilateral-ptosis-due-to-sympathetic-dysfunction-as-a-feature-of-guillain-barre-syndrome
#4
Francis B Panosyan
This case-control study demonstrates that bilateral ptosis due to ocular sympathetic dysfunction is a characteristic feature of Guillain-Barre syndrome (GBS) and apraclonidine can be helpful in unmasking this clinical feature. Five patients with GBS and 9 healthy controls were assessed for ocular sympathetic dysfunction through application of topical apraclonidine to 1 eye. Changes resulting from reversal of ptosis or miosis due to apraclonidine were compared with the eye on the other side with no apraclonidine using photographs...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827487/clinical-and-laboratory-profiles-of-idiopathic-small-fiber-neuropathy-in-children-case-series
#5
Jafar Kafaie, Ali Al Balushi, Minsoo Kim, Alan Pestronk
The role of autoimmune mechanisms in idiopathic small fiber neuropathy (SFN) is not completely understood. Serum IgM binding to trisulfated disaccharide IdoA2S-GlcNS-6S (TS-HDS) and IgG to fibroblast growth factor receptor 3 were associated with sensory motor polyneuropathies and sensory neuronopathy among others. In this retrospective case review, we describe the clinical and laboratory findings of idiopathic SFN in a small cohort of pediatric patients. Eight children were diagnosed with SFN clinically and confirmed by reduced epidermal nerve fiber density...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827486/siblings-with-mutations-in-trappc11-presenting-with-limb-girdle-muscular-dystrophy-2s
#6
Dominic B Fee, Matthew Harmelink, Priya Monrad, Erika Pyzik
Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827485/characterization-of-strength-and-function-in-ambulatory-adults-with-gne-myopathy
#7
Zohar Argov, Faye Bronstein, Alicia Esposito, Yael Feinsod-Meiri, Julaine M Florence, Eileen Fowler, Marcia B Greenberg, Elizabeth C Malkus, Odelia Rebibo, Catherine S Siener, Yoseph Caraco, Edwin H Kolodny, Heather A Lau, Alan Pestronk, Perry Shieh, Alison M Skrinar, Jill E Mayhew
OBJECTIVE: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). RESULTS: Profound upper and lower muscle weakness was measured using hand-held dynamometry in a characteristic pattern, previously described...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827484/type-1-diabetes-celiac-disease-and-neuropathy-a-nationwide-cohort-study
#8
Sujata Thawani, Thomas H Brannagan, Benjamin Lebwohl, Kaziwe Mollazadegan, Peter H R Green, Jonas F Ludvigsson
OBJECTIVE: Both type 1 diabetes (T1D) and celiac disease (CD) have been linked to an increased risk of neuropathy. This study examined the risk of neuropathy in patients with T1D compared with patients with both T1D and CD. METHODS: In a nationwide population-based cohort, T1D was defined as having a diagnosis of diabetes between 1964 and 2009 recorded in the Swedish National Patient Register in individuals ≤30 years of age. CD was defined as having villous atrophy (Marsh histopathology stage III) on small intestinal biopsy...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827483/less-is-more-in-diabetic-neuropathy-diagnosis-comparison-of-quantitative-sudomotor-axon-reflex-and-skin-biopsy
#9
Ahmad R Abuzinadah, Patricia Kluding, Douglas Wright, Linda DʼSilva, Janelle Ryals, Bill Hendry, Omar Jawdat, Laura Herbelin, April L McVey, Richard J Barohn, Mazen M Dimachkie, Mamatha Pasnoor
OBJECTIVES: To compare the frequency of abnormalities in epidermal nerve fiber density (ENFD) and quantitative sudomotor axon reflex (QSART) in patients with diabetic distal symmetric polyneuropathy (DSPN). METHODS: Nerve conduction studies, ENFD, and QSART data were obtained pre- and postexercise, in patients enrolled in a prospective diabetic neuropathy study. McNemar's test was applied to compare the yield of ENFD and QSART. RESULTS: Eighteen patients (58 ± 4 years) were enrolled, with 36 data collection points...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827482/insulin-neuritis-and-effect-of-pregabalin
#10
Yasser Aladdin, Thomas Jeerakathil, Zaeem A Siddiqi
INTRODUCTION: Insulin neuritis (IN) is a rare condition that results in acute painful neuropathy. It occurs classically in patients with diabetes mellitus with uncontrolled sugar levels who are started on insulin therapy leading to a precipitous normalization of blood sugar levels. The condition is heralded by severe and generalized burning pain along with significant weight loss and mood issues. The diagnosis is mainly clinical and the etiology of IN remains obscure. METHODS AND RESULTS: We report on 2 cases who developed acute and excruciating neuropathic pain after institution of insulin therapy for poorly controlled diabetes mellitus...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538257/what-s-in-the-literature
#11
Mark Bromberg, Nicholas J Silvestri, David Lacomis
In this edition, we provide a detailed summary of an informative book, "GBS100: Celebrating a Century of Progress in Guillain-Barré Syndrome" developed by the Peripheral Nerve Society to honor the centenary of the original paper on Guillain-Barré Syndrome. We also review various studies in myasthenia gravis including: management with rituximab; the efficacy of early fast-acting treatment with corticosteroids; and various dosing strategies for tacrolimus. Finally, we review new studies including: the potential pathogenesis, risk factors, and functional decline of patients with inclusion body myositis; MxA immunoreactivity in dermatomyositis; diagnostic approaches for evaluating patients with myalgia, fatigue, and exercise intolerance; MRI patterns in genetic muscle disease; and MRI as an outcome measure in facioscapulohumeral muscular dystrophy...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538256/spinocerebellar-ataxia-type-2-with-onset-at-toddlerhood
#12
Ananthanarayanan Kasinathan, Arushi G Saini, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538255/a-man-with-distal-asymmetric-leg-weakness
#13
Rey Bello, Tulio Bertorini
EDUCATIONAL OBJECTIVES: To discuss a case of adult-onset asymmetric distal leg weakness in a patient who presented with weakness and atrophy of the posterior compartment of the left leg. KEY QUESTIONS: 1. What is the differential diagnosis of asymmetric distal leg weakness?2. How would a clinician approach diagnostic testing for such a patient?3. What is the final diagnosis for this patient?4. How to treat this patient?
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538254/acute-demyelinating-polyneuropathy-as-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-who-exercised-regularly-in-the-army
#14
Malathi Perugula, Gulshan Uppal, Miguel Chuquilin
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain-Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement...
June 2017: Journal of Clinical Neuromuscular Disease
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/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#16
Alissa E Romano, Zaid Al-Qudah, Henry J Kaminski, Bashar Katirji, Karim Salame
Paraspinous myopathy is a rare neuromuscular disorder characterized by selective involvement of the cervical, thoracic, or lumbar muscles. Leading clinical features include a bent spine or dropped head (antecollis). In myasthenia gravis (MG), patients may have camptocormia secondary to neuromuscular junction dysfunction of the paraspinal muscles, and this condition usually responds to acetylcholinesterase inhibitors or immunosuppressive treatments. However, concomitant MG and paraspinous myopathy with histologic and electrophysiologic evidence of myopathic changes of the paraspinal muscles has only been reported twice in the literature...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538251/hyponatremia-in-guillain-barr%C3%A3-syndrome
#17
Kavelin Rumalla, Adithi Y Reddy, Vijay Letchuman, Manoj K Mittal
OBJECTIVES: To evaluate incidence, risk factors, and in-hospital outcomes associated with hyponatremia in patients hospitalized for Guillain-Barré Syndrome (GBS). METHODS: We identified adult patients with GBS in the Nationwide Inpatient Sample (2002-2011). Univariate and multivariable analyses were used. RESULTS: Among 54,778 patients hospitalized for GBS, the incidence of hyponatremia was 11.8% (compared with 4.0% in non-GBS patients) and increased from 6...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538250/cardiac-abnormalities-in-type-1-facioscapulohumeral-muscular-dystrophy
#18
Fabien Labombarda, Maxime Maurice, Jean-Philippe Simon, Damien Legallois, Lucie Guyant-Maréchal, Anne-Laure Bedat-Millet, Philippe Merle, Eric Saloux, Françoise Chapon, Paul Milliez
OBJECTIVES: We conducted a retrospective study to characterize the cardiac complications in patients with genetically confirmed type 1 facioscapulohumeral dystrophy. METHODS: We reviewed baseline cardiac investigations, including electrocardiogram, Holter electrocardiogram and echocardiogram, as well as cardiac complications that occurred during follow-up in 56 adult patients (37 men, mean duration of disease: 20 years). RESULTS: Baseline evaluation revealed minor cardiac anomalies in 23 patients including incomplete right bundle branch block (iRBBB) in 13 patients (23%)...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#19
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221311/unusual-concurrence-of-htlv-i-infection-and-polyneuropathy-organomegaly-endocrinopathy-monoclonal-plasma-cell-disorder-and-skin-changes-syndrome
#20
LETTER
Reza Boostani, Nahid Olfati
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
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