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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/30124561/clinical-variability-in-2-siblings-with-late-onset-pompe-disease
#1
Carolina da Cunha Correia, Pedro Nogueira Fontana, Gustavo Henrique Belarmino de Góes, Edmar Zanoteli
No abstract text is available yet for this article.
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124560/evolving-electrodiagnostic-and-radiologic-findings-in-a-case-of-ganglionopathy
#2
Waqar Waheed, Joshua Nickerson, Rup Tandan
No abstract text is available yet for this article.
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124559/case-of-early-amyotrophic-lateral-sclerosis-with-prominent-magnetic-resonance-imaging-plexus-abnormalities
#3
Adeel S Zubair, Rafid Mustafa, Kimberly K Amrami, Brian A Crum
Amyotrophic lateral sclerosis is a neurodegenerative disorder, which is characterized by progressive upper and lower motor neuron signs and symptoms, resulting in progressive muscle weakness. There are very rare reports of magnetic resonance imaging (MRI) abnormalities within the nerve roots or plexus reported in amyotrophic lateral sclerosis. Here, we report a patient who presented with progressive left arm weakness and was found to have bilateral MRI plexus abnormalities. This report illustrates that MRI plexus abnormalities can be seen in amyotrophic lateral sclerosis, possibly before symptoms, and may have clinical value in the diagnostic process...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124558/fgfr3-antibodies-in-neuropathy-what-to-do-with-them
#4
Verena Samara, Jacinda Sampson, Srikanth Muppidi
OBJECTIVES: To describe the variability of fibroblast growth factor receptor 3 (FGFR3) antibody titers in a small series of patients. METHODS: We performed a retrospective review of patients with neuropathy and positive FGFR3 antibodies. RESULTS: We report 7 patients (3 women) with an age range 44-81 years. Symptoms were acute onset in 3 and subacute onset in 4 patients. Five had neuropathic pain. Examination revealed normal large fiber function to mild/moderate predominantly sensory neuropathy and ataxia in one patient...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124557/autoimmune-neuromuscular-diseases-induced-by-immunomodulating-drugs
#5
Songkit Supakornnumporn, Bashar Katirji
Immunomodulating drugs are widely used in autoimmune, transplant, and cancer patients. However, these drugs are associated with various autoimmune neuromuscular diseases such as demyelinating polyneuropathy, myasthenia gravis, and myositis. Early recognition of these complications and immediately terminating these drugs are very essential since some are life-threatening conditions. This review provides a general overview of drug-induced autoimmunity and autoimmune neuromuscular diseases associated with tumor necrosis factor alpha (TNF-α) antagonists, immune checkpoint inhibitors, and interferon (IFN) type 1 (IFN-β and IFN-α)...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124556/congenital-myasthenic-syndrome-spectrum-of-mutations-in-an-indian-cohort
#6
Pavalan Selvam, Gautham Arunachal, Sumita Danda, Aaron Chapla, Ajith Sivadasan, Mathew Alexander, Maya Mary Thomas, Nihal J Thomas
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. METHODS: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients. RESULTS: We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A common pathogenic COLQ variant was also detected in 4 patients with isolated limb-girdle congenital myasthenia...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124555/inflammatory-diabetic-neuropathy-helpful-diagnostic-parameters
#7
Pariwat Thaisetthawatkul, J Americo Fernandes, Ezequiel Piccione, Laetitia Truong, P James B Dyck
OBJECTIVES: Mild inflammatory diabetic neuropathies (IDNs) overlap with diabetic sensorimotor neuropathy (DPN) in clinical presentation and electrophysiological and laboratory tests. This study is to determine whether IDN can be differentiated from DPN by clinical features, electrophysiological, pathological, or laboratory tests. METHODS: Suspected IDN cases were identified by a subacute onset and progressive sensory or motor neuropathy in patients with diabetes...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/30124554/low-sensitivity-of-skin-biopsy-in-diagnosing-small-fiber-neuropathy-in-chinese-americans
#8
Peter Jin, Ling Cheng, Ming Chen, Lan Zhou
OBJECTIVES: To compare skin biopsy sensitivity for diagnosing small fiber sensory neuropathy in Chinese American and non-Chinese American patients. METHODS: We screened our skin biopsy database and performed chart review to identify Chinese and non-Chinese American patients with a high clinical suspicion for a distal small fiber sensory neuropathy, and compared the skin biopsy sensitivity. RESULTS: Twenty-three Chinese American and 32 non-Chinese American patients with the presence of distal small fiber sensory symptoms and signs were studied...
September 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794580/novel-ttn-mutation-causing-congenital-myopathy
#9
Ananthanarayanan Kasinathan, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794579/novel-mutation-in-anoctamin-5-gene-causing-limb-girdle-muscular-dystrophy-2l
#10
Leema Reddy Peddareddygari, Kinsi Oberoi, Ada Baisre-De Leon, Raji P Grewal
We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation. Genetic testing of more than 50 genes known to cause myopathy was performed and demonstrates the presence of the common founder mutation in ANO5 gene c.191dupA, which he inherited from his unaffected father...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794578/fisher-pharyngeal-cervical-brachial-overlap-syndrome-with-novel-ganglioside-antibodies
#11
Swetha Pedavally, Zulma M Hernández, Lawrence A Zeidman
Several variants of Guillain-Barré syndrome have been described. The Fisher syndrome (FS) presents with ataxia, areflexia, and ophthalmoparesis. The pharyngeal-cervical-brachial (PCB) variant presents with bulbar weakness, along with arm and neck weakness. The 2 variant syndromes can overlap. Both the isolated and overlap syndromes respond to immunomodulatory treatment, thus are important to recognize clinically. Ganglioside antibodies are detectable in the variant syndromes and may aid in their diagnosis...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794577/what-is-in-the-myopathy-literature
#12
REVIEW
David Lacomis
This update covers the results of a randomized, placebo-controlled study that provides evidence that lamotrigine is effective in treating nondystrophic myotonias. Next, an overview of adverse effects of immune checkpoint inhibitors is provided, and the association of autoimmune myopathy and these monoclonal antibody therapies is discussed in light of recent reports. Last, the utility of electrodiagnostic testing in patients with intensive care unit weakness is addressed with emphasis on the high sensitivity and specificity of prolonged compound muscle action potential amplitudes in diagnosing critical illness myopathy...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794576/case-of-anti-single-recognition-particle-mediated-necrotizing-myopathy-after-influenza-vaccination
#13
Mansoureh Mamarabadi, Ada Baisre, Megan Leitch, Vivien Hsu, Jaya S Kanduri, Shan Chen
Immune-mediated necrotizing myopathy is a very rare inflammatory disease affecting skeletal muscles. Immune-mediated necrotizing myopathy may be associated with myositis-specific autoantibodies including anti-single recognition particle and anti-3-hydroxy-3- methylglutaryl-coenzyme A reductase, infectious agents (HIV or hepatitis C), other connective tissue disorders (such as scleroderma), and malignancy. We reported a 28-year-old healthy woman presented with subacute onset ascending muscle weakness 2 weeks after an annual influenza vaccination...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794575/distinct-clinical-and-genetic-findings-in-iranian-patients-with-glycogen-storage-disease-type-3
#14
Ferdos Nazari, Farnaz Sinaei, Yalda Nilipour, François Petit, Shahram Oveisgharan, Mohsen Nassiri-Toosi, Maryam Razzaghy-Azar, Mahdi Mahmoudi, Shahriar Nafissi
OBJECTIVES: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. METHODS: Clinical and laboratory data of 5 patients with GSD-III were recorded. Genetic investigation was performed to identify the causative mutations...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794574/lumbosacral-radiculoplexopathy-as-the-initial-presentation-of-lymphoma-a-report-of-4-cases
#15
Robert J Marquardt, Yuebing Li
OBJECTIVES: To evaluate the clinical, laboratory, and radiological features of 4 cases of biopsy-proven lymphomatous lumbosacral radiculoplexopathy. METHODS: Retrospective chart review. RESULTS: All patients suffered from diffuse large B-cell lymphoma. A mean diagnostic delay of 10 months was encountered. Presenting symptoms in all 4 patients included back pain, radicular leg pain, and leg weakness, similar to spondylotic radiculopathy. Electrodiagnostic study showed axon loss radiculoplexopathy and magnetic resonance imaging of the lumbar spine or pelvis demonstrated nerve or nerve root enhancement...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794573/a-retrospective-analysis-of-the-safety-profile-of-intravenous-immunoglobulin-in-1176-patients-receiving-home-infusion-therapy
#16
Nizar Souayah, Ankit Pahwa, Lauren Burawski, Tamara Opila, Howard W Sander
OBJECTIVES: This analysis assessed the safety of intravenous immunoglobulin (IVIg) in the treatment of patients with neuroimmunological and immunological disorders in a home-based setting. METHODS: Adverse reactions (ARs) were assessed in a retrospective review of 1176 patients receiving 28,677 home-based IVIg infusions between 1996 and 2013. RESULTS: Of 1176 patients, 648 (55.1%) experienced IVIg-related ARs; 536 (45.6%) were mild, 78 (6...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465620/coexistence-of-ankylosing-spondylitis-and-myotonic-dystrophy-camptocormia-or-thoracic-ankylosis
#17
Ozgur Z Karaahmet, Fatma Balli, Ajda Bal, Eda Gurcay, Aytul Cakci
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465619/miller-fisher-syndrome-with-botulism-toxin-ingestion-the-ultimate-descending-paralysis
#18
Mitch J Hargis, Melissa Howdeshell
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465618/case-of-charcot-marie-tooth-type-2c-due-to-a-trpv4-gene-mutation-with-isolated-sudomotor-autonomic-dysfunction
#19
Jacquie Baker, Kurt Kimpinski
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465617/hypoglycemia-in-a-patient-with-facioscapulohumeral-muscular-dystrophy
#20
Carlos Esteban Builes-Montaño, Manuel Alejandro Nieto Gonzalez, Dora Lilia Hernandez
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
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