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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/29189559/weakness-hypokalemia-and-dengue
#1
Viroj Wiwanitkit
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189558/paraneoplastic-necrotizing-myopathy-associated-with-neuroendocrine-carcinoma
#2
Kongkiat Kulkantrakorn, Tumtip Sangruchi
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189557/unusual-case-of-facioscapulohumeral-dystrophy
#3
Bhavesh Trikamji, Margaret Adler
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189556/atypical-asymmetric-guillain-barr%C3%A3-syndrome-with-acute-rhabdomyolysis
#4
Mitch J Hargis
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189555/what-is-in-the-literature
#5
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189554/paraneoplastic-lambert-eaton-myasthenic-syndrome-with-limbic-encephalitis-clinical-correlation-with-the-coexistence-of-anti-vgcc-and-anti-gabab-receptor-antibodies
#6
Jonathan J Cho, James P Wymer
OBJECTIVE: To characterize Lambert-Eaton myasthenic syndrome and limbic encephalitis with coexistent voltage-gated calcium channel (VGCC) antibody and γ-aminobutyric acid (GABA) B receptor antibody. METHODS: Case study. RESULTS: A 57-year-old man presented with 6 months of weakness, unsteadiness, and vision difficulties. Examination revealed proximal weakness and diminished reflexes. Electrodiagnostic study revealed low-amplitude motor potentials and facilitation on high-frequency stimulation...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189553/guillain-barr%C3%A3-syndrome-triggered-by-immune-checkpoint-inhibitors-a-case-report-and-literature-review
#7
Songkit Supakornnumporn, Bashar Katirji
Immune checkpoint inhibitors, used as immunotherapy in the treatment of melanoma and refractory cancer, may trigger autoimmune disorders. We describe a case of Guillain-Barré syndrome (GBS) after the treatment with ipilimumab and nivolumab and review 4 other reported cases. We confirmed the diagnosis of GBS by electrodiagnostic and cerebrospinal fluid studies. Electrodiagnostic results showed findings consistent with acquired demyelinating polyneuropathy and cerebrospinal fluid showed albuminocytologic dissociation...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189552/autonomic-reflex-screen-test-abnormalities-in-cold-induced-sweating-syndrome-type-1
#8
Ahmed M El-Dokla, Jannatul Ferdous, Sara T Ali, Khondoker Alam
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189551/distinguishing-features-of-the-repetitive-nerve-stimulation-test-between-lambert-eaton-myasthenic-syndrome-and-myasthenia-gravis-50-year-reappraisal
#9
Shin J Oh
OBJECTIVE: To reappraise the distinguishing features of the repetitive nerve stimulation (RNS) tests in the abductor digiti quinti muscle between myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) 50 years after the 1965's Lambert seminal paper. METHODS: The various parameters of the RNS test were compared between 34 patients with LEMS and 140 patients with MG to assess their diagnostic sensitivity. RESULTS: RNS test was abnormal in all (100%) patients with LEMS and 76 (54%) patients with MG...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189550/pediatric-cidp-clinical-features-and-response-to-treatment
#10
Yohei Harada, David N Herrmann, Eric L Logigian
OBJECTIVES: Childhood chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) responds favorably to immunomodulatory treatment. However, the optimal sequencing and selection of immunotherapy is uncertain. METHODS: Using accepted diagnostic criteria, pediatric patients with CIDP seen at our center from 1999 to 2015 were identified retrospectively through medical record review. Clinical details and treatment responses were tabulated. RESULTS: Ten patients (age 4-16, 6 women) with definite (N = 8) or possible (N = 2) CIDP met criteria...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189549/outcome-of-guillain-barr%C3%A3-syndrome-in-tertiary-care-centers-in-thailand
#11
Kongkiat Kulkantrakorn, Puchit Sukphulloprat
BACKGROUND: Guillain-Barré syndrome (GBS), a common acute polyneuropathy, is seen worldwide with significant morbidity and mortality. GBS consists of a number of subtypes. OBJECTIVE: The aim of this study is to identify clinical characteristics, electrophysiologic changes, clinical course, treatment, and outcome of GBS in Thailand. MATERIAL AND METHODS: Retrospective study of GBS patients aged 15 years or older, admitted to Thammasat University Hospital and Bangkok Hospital Medical Center between January 1, 2009 and November 30, 2014...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827491/pyridostigmine-induced-bradycardia-in-patient-with-musk-ab-positive-myasthenia-gravis-and-alopecia-universalis
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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