662 results match your criteria Journal of Clinical Neuromuscular Disease[Journal]


Muscle Hypertrophy in a Child With Progressive Weakness-Thinking Beyond Muscular Dystrophy.

J Clin Neuromuscul Dis 2019 03;20(3):140-141

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1097/CND.0000000000000227DOI Listing

Joint Hyperlaxity, Proximal Contractures, and Facial Weakness in Child With Spinal Muscular Atrophy.

J Clin Neuromuscul Dis 2019 03;20(3):138-140

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1097/CND.0000000000000224DOI Listing

Influence of Body Mass Index and Prealbumin Levels on Lung Function in Patients With Spinal Muscular Atrophy: A Pilot Study.

J Clin Neuromuscul Dis 2019 03;20(3):137-138

Acute Neurorespiratory Rehabilitation Unit, Neuromuscular Excellency Centre, Centre for Home Mechanical Ventilation, Inkendaal Rehabilitation Hospital, Vlezenbeek, Belgium.

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http://dx.doi.org/10.1097/CND.0000000000000225DOI Listing

Thenar Hypertrophy and Electrical Myotonia in Pompe Disease.

J Clin Neuromuscul Dis 2019 03;20(3):135-137

Department of Pediatrics, Chief Pediatric Neurology and Neurodevelopment, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1097/CND.0000000000000195DOI Listing
March 2019
1 Read

What Is in the Myopathy Literature?

J Clin Neuromuscul Dis 2019 Mar;20(3):129-134

Pediatrics (Child Neurology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular systolic dysfunction, and caregiver burden are also covered. A study of skeletal muscle magnetic resonance imaging in dysferlinopathies provides an extensive, detailed map of the involved muscles and consistency across phenotypes. Read More

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http://dx.doi.org/10.1097/CND.0000000000000226DOI Listing

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis.

J Clin Neuromuscul Dis 2019 Mar;20(3):120-128

Division of Neuropathology, Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY.

Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately proves fatal. In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Read More

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http://dx.doi.org/10.1097/CND.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392216PMC
March 2019
1 Read

Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS.

J Clin Neuromuscul Dis 2019 Mar;20(3):111-119

Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.

Objective: To assess tolerability and efficacy of amifampridine phosphate versus placebo for symptomatic treatment of Lambert-Eaton Myasthenic Syndrome (LEMS).

Methods: This phase 3 randomized, double-blind, placebo-controlled withdrawal trial in 26 adults with LEMS compared efficacy of amifampridine phosphate versus placebo over a 4-day period. The primary endpoints were quantitative myasthenia gravis score (QMG) and subject global impression, and the secondary endpoint was Clinical Global Impression-Improvement. Read More

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http://dx.doi.org/10.1097/CND.0000000000000239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392213PMC
March 2019
9 Reads

Prevalence of Axonal Sensory Neuropathy With IgM Binding to Trisulfated Heparin Disaccharide in Patients With Fibromyalgia.

J Clin Neuromuscul Dis 2019 Mar;20(3):103-110

Washington University in Saint Louis, Saint Louis, MO.

Objective: To assess the intraepidermal nerve fiber density in patients diagnosed with fibromyalgia (FM) and to evaluate the role of IgM binding to trisulfated heparin disaccharide (TS-HDS) in these patients.

Methods: FM is a poorly understood pain disorder with several proposed pathophysiologic mechanisms. It is characterized by widespread pain, fatigue, and sleep abnormalities. Read More

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http://dx.doi.org/10.1097/CND.0000000000000236DOI Listing
March 2019
10 Reads

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.

J Clin Neuromuscul Dis 2018 12;20(2):100-101

Neuromuscular Pathology Unit, Service of Neurology, Hospital "Sant Joan de Déu," Esplugues de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1097/CND.0000000000000217DOI Listing
December 2018
1 Read

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome.

J Clin Neuromuscul Dis 2018 Dec;20(2):94-98

Departments of Pediatrics and.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000233DOI Listing
December 2018
33 Reads

Current Cardiac Imaging Approaches in Duchenne Muscular Dystrophy.

J Clin Neuromuscul Dis 2018 Dec;20(2):85-93

Department of Paediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000204DOI Listing
December 2018
25 Reads

What is in the Neuromuscular Junction Literature?

J Clin Neuromuscul Dis 2018 Dec;20(2):76-84

Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000218DOI Listing
December 2018
3 Reads

Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review.

J Clin Neuromuscul Dis 2018 Dec;20(2):69-75

Department of Neurology, Weill Cornell Medical College, New York, NY.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000228DOI Listing
December 2018
2 Reads

Poor Sleep Quality in Patients With Amyotrophic Lateral Sclerosis at the Time of Diagnosis.

J Clin Neuromuscul Dis 2018 Dec;20(2):60-68

Departments of Neurology and.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000234DOI Listing
December 2018
2 Reads

Satisfactory Response With Achieving Maintenance Low-Dose Prednisone in Generalized Myasthenia Gravis.

J Clin Neuromuscul Dis 2018 Dec;20(2):49-59

Neurology Department, The University of Kansas Medical Center, Kansas City, KS.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241299PMC
December 2018
25 Reads

Clinical Variability in 2 Siblings With Late-Onset Pompe Disease.

J Clin Neuromuscul Dis 2018 09;20(1):47-48

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1097/CND.0000000000000216DOI Listing
September 2018
13 Reads

Evolving Electrodiagnostic and Radiologic Findings in a Case of Ganglionopathy.

J Clin Neuromuscul Dis 2018 Sep;20(1):45-46

Departments of Neurology and.

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http://dx.doi.org/10.1097/CND.0000000000000215DOI Listing
September 2018
1 Read

Case of Early Amyotrophic Lateral Sclerosis With Prominent Magnetic Resonance Imaging Plexus Abnormalities.

J Clin Neuromuscul Dis 2018 Sep;20(1):41-44

Department of Neurology, Mayo Clinic College of Medicine & Science, Rochester, MN.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000206DOI Listing
September 2018
3 Reads

FGFR3 Antibodies in Neuropathy: What to Do With Them?

J Clin Neuromuscul Dis 2018 Sep;20(1):35-40

Department of Neurology and Neurosciences, Stanford Medical Center, Palo Alto, CA.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000221DOI Listing
September 2018
38 Reads

Autoimmune Neuromuscular Diseases Induced by Immunomodulating Drugs.

J Clin Neuromuscul Dis 2018 Sep;20(1):28-34

Department of Neurology, Neuromuscular Center, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000214DOI Listing
September 2018
7 Reads

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.

J Clin Neuromuscul Dis 2018 Sep;20(1):14-27

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000222DOI Listing
September 2018
22 Reads

Inflammatory Diabetic Neuropathy: Helpful Diagnostic Parameters.

J Clin Neuromuscul Dis 2018 Sep;20(1):7-13

Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000207DOI Listing
September 2018
3 Reads

Low Sensitivity of Skin Biopsy in Diagnosing Small Fiber Neuropathy in Chinese Americans.

J Clin Neuromuscul Dis 2018 Sep;20(1):1-6

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY. Mr. M. Chen and Dr. L. Zhou is now with the Departments of Neurology & Neurotherapeutics and Pathology, University of Texas Southwestern Medical Center, Dallas, TX.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133210PMC
September 2018
2 Reads

Novel TTN Mutation Causing Congenital Myopathy.

J Clin Neuromuscul Dis 2018 06;19(4):232

Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1097/CND.0000000000000167DOI Listing
June 2018
2 Reads

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.

J Clin Neuromuscul Dis 2018 Jun;19(4):228-231

Neuroscience Institute, Saint Francis Medical Center, Trenton, NJ.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000202DOI Listing
June 2018
8 Reads

Fisher-Pharyngeal-Cervical-Brachial Overlap Syndrome With Novel Ganglioside Antibodies.

J Clin Neuromuscul Dis 2018 Jun;19(4):224-227

Department of Neurology and Rehabilitation, University of Illinois at Chicago, Chicago, IL.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000205DOI Listing
June 2018
1 Read

What is in the Myopathy Literature?

Authors:
David Lacomis

J Clin Neuromuscul Dis 2018 Jun;19(4):217-223

Departments of Neurology and Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000203DOI Listing
June 2018
2 Reads

Case of Anti-Single Recognition Particle-Mediated Necrotizing Myopathy After Influenza Vaccination.

J Clin Neuromuscul Dis 2018 Jun;19(4):211-216

Department of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000208DOI Listing
June 2018
13 Reads

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

J Clin Neuromuscul Dis 2018 Jun;19(4):203-210

Iranian Center of Neurological Research, Neuroscience Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000212DOI Listing
June 2018
8 Reads

Lumbosacral Radiculoplexopathy as the Initial Presentation of Lymphoma: A Report of 4 Cases.

J Clin Neuromuscul Dis 2018 Jun;19(4):196-202

Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic Cleveland, OH.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000213DOI Listing
June 2018
5 Reads

A Retrospective Analysis of the Safety Profile of Intravenous Immunoglobulin in 1176 Patients Receiving Home Infusion Therapy.

J Clin Neuromuscul Dis 2018 Jun;19(4):181-195

Department of Neurology, New York University School of Medicine, New York, NY.

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. Read More

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http://dx.doi.org/10.1097/CND.0000000000000201DOI Listing
June 2018
4 Reads

Coexistence of Ankylosing Spondylitis and Myotonic Dystrophy: Camptocormia or Thoracic Ankylosis.

J Clin Neuromuscul Dis 2018 03;19(3):147-148

Department of Physical Medicine & Rehabilitation, Diskapi Yildirim Beyazit Educational and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1097/CND.0000000000000185DOI Listing
March 2018
8 Reads

Miller-Fisher Syndrome With Botulism Toxin Ingestion: The Ultimate Descending Paralysis.

J Clin Neuromuscul Dis 2018 03;19(3):146

Department of Neurocritical Care, Novant Health Forsyth Medical Center, Winston-Salem NC.

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http://dx.doi.org/10.1097/CND.0000000000000186DOI Listing
March 2018
3 Reads

Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction.

J Clin Neuromuscul Dis 2018 03;19(3):144-146

Department of Clinical Neurological Sciences, University Hospital, London Health Sciences Centre, London, ON, Canada.

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http://dx.doi.org/10.1097/CND.0000000000000187DOI Listing
March 2018
11 Reads

Hypoglycemia in a Patient With Facioscapulohumeral Muscular Dystrophy.

J Clin Neuromuscul Dis 2018 03;19(3):143-144

Hospital Pablo Tobón Uribe, Medellín, Colombia.

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http://dx.doi.org/10.1097/CND.0000000000000199DOI Listing
March 2018
3 Reads

Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy.

J Clin Neuromuscul Dis 2018 03;19(3):142-143

Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1097/CND.0000000000000177DOI Listing
March 2018
8 Reads

Peripheral Vasculitic Neuropathy Associated With Minocycline Use.

J Clin Neuromuscul Dis 2018 Mar;19(3):138-141

Department of Neurology, Lahey Hospital and Medical Center, Burlington, MA.

We describe 2 patients presenting with multiplex mononeuritis, associated with skin manifestation, secondary to minocycline-induced vasculitis. One of the cases is associated neither with lupus nor polyarteritis nodosa. An extensive laboratory workup ruled out any possible underlying immunologic disorder. Read More

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http://dx.doi.org/10.1097/CND.0000000000000197DOI Listing
March 2018
6 Reads

Radiation-Induced Painful Neurogenic Hypertrophy Treated With Botulinum Toxin A.

J Clin Neuromuscul Dis 2018 Mar;19(3):135-137

Neuromuscular Medicine, St. Luke's Rehabilitation Institute, Spokane, WA.

Painful neurogenic hypertrophy is a rare complication of radiation therapy. We report a 27-year-old woman with a history of adenoid cystic carcinoma of the submandibular gland presented with painful twitching of her left shoulder. Electrodiagnostic studies were consistent with a diagnosis of radiation-induced spinal accessory nerve hyperactivity. Read More

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http://dx.doi.org/10.1097/CND.0000000000000191DOI Listing
March 2018
21 Reads

What is in the Myopathy Literature?

Authors:
David Lacomis

J Clin Neuromuscul Dis 2018 Mar;19(3):131-134

Departments of Neurology and Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

This review is focused on recent reports of sporadic inclusion body myositis (sIBM), myopathy in patients with human immunodeficiency virus type 1 (HIV) infection, and necrotizing autoimmune myopathy with antibodies to signal recognition particle. The sIBM articles cover associations with certain genetic polymorphisms, the possible pathogenic role of anti-cytosolic 5'-nucleotidase 1A antibody, and disease-related burden and health care costs. Another article addressed the possible pathogenic role of signal recognition particle antibody in necrotizing myopathy. Read More

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http://dx.doi.org/10.1097/CND.0000000000000194DOI Listing
March 2018
12 Reads

Patient With 2 Hematologic Malignancies Presenting as Neurolymphomatosis.

J Clin Neuromuscul Dis 2018 Mar;19(3):124-130

Department of Neuro-Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX.

Peripheral nervous system damage from hematologic malignancies is related to neoplastic cells infiltration of peripheral nerves or to monoclonal antibody production cross-reacting with peripheral nerves' antigens. Neurolymphomatosis (NL), a rare manifestation of hematologic malignancies, occurs when malignant cells invade the peripheral nerves leading to various manifestations. Here, we report a case of NL with 2 hematologic malignancies in a 79-year-old woman presenting with lower extremity pain/weakness. Read More

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http://dx.doi.org/10.1097/CND.0000000000000183DOI Listing
March 2018
5 Reads

Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

J Clin Neuromuscul Dis 2018 Mar;19(3):117-123

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

We report the cases of 2 patients who presented to our Myositis Center with myalgias and elevated creatine kinase levels. Muscle biopsy showed pathological features consistent with mitochondrial myopathy. In both cases, a single large deletion in mitochondrial DNA at low-level heteroplasmy was identified by next-generation sequencing in muscle tissue. Read More

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http://dx.doi.org/10.1097/CND.0000000000000200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824425PMC
March 2018
6 Reads

COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.

J Clin Neuromuscul Dis 2018 Mar;19(3):108-116

Department of Neurology, Medical College of Wisconsin, Milwaukee, WI.

Objectives: COL6A and LAMA2 are subtypes of congenital muscular dystrophy.

Methods: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects.

Results: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1. Read More

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http://dx.doi.org/10.1097/CND.0000000000000198DOI Listing
March 2018
12 Reads

Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot-Marie-Tooth Disease.

J Clin Neuromuscul Dis 2018 Mar;19(3):101-107

Department of Neurological Sciences, University of Vermont, Burlington, VT.

Objectives: We report the clinical phenotype in 3 consecutive generations with demyelinating Charcot-Marie-Tooth disease that possess a novel sequence variant of myelin protein zero (MPZ).

Methods: Family members from 3 consecutive generations were interviewed, examined, and studied with electrodiagnostic testing. Commercially available next-generation sequencing was performed for the proband. Read More

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http://dx.doi.org/10.1097/CND.0000000000000188DOI Listing
March 2018
6 Reads

Weakness, Hypokalemia, and Dengue.

Authors:
Viroj Wiwanitkit

J Clin Neuromuscul Dis 2017 12;19(2):99

Hainan Medical University, China.

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http://dx.doi.org/10.1097/CND.0000000000000170DOI Listing
December 2017
5 Reads

Paraneoplastic Necrotizing Myopathy Associated With Neuroendocrine Carcinoma.

J Clin Neuromuscul Dis 2017 12;19(2):98-99

Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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http://dx.doi.org/10.1097/CND.0000000000000169DOI Listing
December 2017
3 Reads

Unusual Case of Facioscapulohumeral Dystrophy.

J Clin Neuromuscul Dis 2017 12;19(2):97

Department of Neurology, Harbor- UCLA Medical Center, Torrance, CA.

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http://dx.doi.org/10.1097/CND.0000000000000182DOI Listing
December 2017
5 Reads

Atypical Asymmetric Guillain-Barré Syndrome With Acute Rhabdomyolysis.

Authors:
Mitch J Hargis

J Clin Neuromuscul Dis 2017 12;19(2):96

Novant Health Forsyth Medical Center, Winston-Salem, NC.

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http://dx.doi.org/10.1097/CND.0000000000000175DOI Listing
December 2017
9 Reads

What is in the Literature?

Authors:
Mark B Bromberg

J Clin Neuromuscul Dis 2017 Dec;19(2):89-95

Department of Neurology, University of Utah, Salt Lake City, UT.

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)]. Read More

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http://dx.doi.org/10.1097/CND.0000000000000196DOI Listing
December 2017
4 Reads

Paraneoplastic Lambert-Eaton Myasthenic Syndrome With Limbic Encephalitis: Clinical Correlation With the Coexistence of Anti-VGCC and Anti-GABAB Receptor Antibodies.

J Clin Neuromuscul Dis 2017 Dec;19(2):84-88

Department of Neurology, McKnight Brain Institute, University of Florida College of Medicine, Gainesville, FL.

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. Read More

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http://Insights.ovid.com/crossref?an=00131402-201712000-0000
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http://dx.doi.org/10.1097/CND.0000000000000192DOI Listing
December 2017
13 Reads