Read by QxMD icon Read

Journal of Clinical Neuromuscular Disease

Daniel Natera-de Benito, José Berciano, Antonio García, Enrique M de Lucas, Carlos Ortez, Andrés Nascimento
No abstract text is available yet for this article.
December 2018: Journal of Clinical Neuromuscular Disease
Alessio Cortellini, Luca Napoleoni, Nicola Cimini, Alessandro Parisi, Francesco Pavese, Carla DʼOrazio, Lucilla Verna, Giampiero Porzio, Corrado Ficorella
No abstract text is available yet for this article.
December 2018: Journal of Clinical Neuromuscular Disease
Yohei Harada, Tuhin Virmani, Murat Gokden, Vikki Stefans
Severe recurrent proximal muscle weakness without neuroleptic malignant syndrome secondary to antidopaminergic medication has rarely been reported. We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0.5 to 1 mg daily, he had developed proximal muscle weakness that spontaneously improved 2 months after discontinuation of risperidone...
December 2018: Journal of Clinical Neuromuscular Disease
Sabrina Poonja, Alyssa Power, Jean K Mah, Nowell M Fine, Steven C Greenway
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular condition caused by mutations in the dystrophin gene leading to skeletal muscle weakness and dilated cardiomyopathy. The prevalence of DMD-related cardiomyopathy increases with age and is almost universal by the third decade of life. Myocardial fibrosis and progressive left ventricular dysfunction lead to the development of heart failure and premature death. With modern advances in medical and surgical management for patients with DMD increasing their life expectancy, cardiac dysfunction represents an increasing cause of morbidity and mortality in these patients...
December 2018: Journal of Clinical Neuromuscular Disease
David Lacomis, Araya Puwanant
This update begins with myasthenia gravis and the roles of anti-agrin and cortactin antibodies. Regarding diagnosis, a report on repeated ice pack testing is highlighted as are several reports on the close correlation of electrodiagnostic testing with clinical features and the response to treatment. The incidence of head drop and associated clinical and ventilatory features are gleaned from a retrospective study. We also discuss a study that assessed the predominantly symmetric and conjugate ocular findings in MuSK-myasthenia gravis...
December 2018: Journal of Clinical Neuromuscular Disease
Joshua Weaver, Kyung-Wha Kim, Bridget T Carey, Jennifer A Langsdorf, Russell L Chin
OBJECTIVES: To determine whether there are gender differences in the clinical presentation or skin biopsy measures of nerve fiber density in patients with small fiber neuropathy (SFN). METHODS: Retrospective chart review of subjects with suspected SFN. RESULTS: Of 218 cases (137 women and 81 men) with suspected SFN, 96 (44%), including 63% of the men and 33% of the women (P < 0.05), had low epidermal nerve fiber density (ENFD) or sweat gland nerve fiber density (SGNFD)...
December 2018: Journal of Clinical Neuromuscular Disease
Montserrat Diaz-Abad, Jennifer R Buczyner, Brigit R Venza, Steven M Scharf, Justin Y Kwan, Brooke Lubinski, James W Russell
OBJECTIVES: Patients with amyotrophic lateral sclerosis (ALS) have poor sleep quality, but little is known about which factors affect sleep at time of diagnosis. METHODS: Patients with newly diagnosed ALS were administered the Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale, Beck Depression Inventory-Revised, and ALS Functional Rating Scale and were compared with controls. RESULTS: Forty-three patients, age 63.8 ± 11.5 years, ALS Functional Rating Scale 30...
December 2018: Journal of Clinical Neuromuscular Disease
Ahmad R Abuzinadah, Duaa Jabari, Omar Jawdat, Mamatha Pasnoor, Melanie Glenn, Laura Herbelin, April L McVey, Richard J Barohn, Mazen M Dimachkie
OBJECTIVES: To estimate the satisfactory response rate (SR%) with achieving maintenance, low-dose prednisone in acetylcholine receptor antibody-positive generalized myasthenia gravis. METHODS: In this retrospective study, we estimate the SR% as defined by (remission/minimal manifestations status for at least 6 months using 7.5 mg or less of prednisone daily, for maintenance treatment at 2, 4, and 6 years after symptoms onset) for patients who were not taking steroid-sparing immunosuppressant (SSI) as a primary outcome and for patients taking an SSI as a secondary outcome...
December 2018: Journal of Clinical Neuromuscular Disease
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
Waqar Waheed, Joshua Nickerson, Rup Tandan
No abstract text is available yet for this article.
September 2018: Journal of Clinical Neuromuscular Disease
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
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
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
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
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
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
Ananthanarayanan Kasinathan, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
June 2018: Journal of Clinical Neuromuscular Disease
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
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
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"