Journal of Clinical Neuromuscular Disease This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

What is in the Neuromuscular Junction Literature?
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. Other topics that are covered include quality of life and preoperative risk. We then summa...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Review Article Source Type: research

Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review
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 (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Poor Sleep Quality in Patients With Amyotrophic Lateral Sclerosis at the Time of Diagnosis
Conclusions: Patients with newly diagnosed ALS have poor sleep quality, which is associated with depression and difficulty turning in bed. Longitudinal studies to examine the evolution of sleep quality and the effectiveness of individualized interventions are needed in patients with ALS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Satisfactory Response With Achieving Maintenance Low-Dose Prednisone in Generalized Myasthenia Gravis
Conclusions: Nearly half of the generalized myasthenia gravis patients who were not taking an SSI achieved an SR. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Clinical Variability in 2 Siblings With Late-Onset Pompe Disease
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Evolving Electrodiagnostic and Radiologic Findings in a Case of Ganglionopathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Image Source Type: research

Case of Early Amyotrophic Lateral Sclerosis With Prominent Magnetic Resonance Imaging 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. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Case Review Source Type: research

FGFR3 Antibodies in Neuropathy: What to Do With Them?
Conclusions: Our case series highlights the variability and inconsistency in FGFR3 antibody titers through enzyme-linked immunosorbent assay testing. These antibody titers should always be interpreted with caution in clinical context. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Short Report Source Type: research

Autoimmune Neuromuscular Diseases Induced by Immunomodulating Drugs
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 IF...
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Review Article Source Type: research

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Conclusions: Targeted screening of 5 genes is an effective alternate test for CMS, and an affordable one even in a developing country such as India. In addition, we recommend that patients with isolated limb-girdle congenital myasthenia be screened initially for the common COLQ pathogenic variant. This study throws the first light on the genetic landscape of CMSs in India. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Inflammatory Diabetic Neuropathy: Helpful Diagnostic Parameters
Conclusions: Features that favor IDN over DPN are limb weakness, more severe nerve conduction abnormalities, inflammatory infiltrates on nerve biopsy, and a favorable response to immunotherapy. A nerve biopsy can help establish an inflammatory cause. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Low Sensitivity of Skin Biopsy in Diagnosing Small Fiber Neuropathy in Chinese Americans
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. Intraepidermal nerve fiber density (IENFD) (fibers/mm) at the distal leg...
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Novel TTN Mutation Causing Congenital Myopathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L
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. In addition, he inherited a novel mutation, c.1063C>T (p.L355F) in exon 11 of ANO5 gene from his unaff...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Short Report Source Type: research

Fisher–Pharyngeal–Cervical–Brachial Overlap Syndrome With Novel Ganglioside Antibodies
We present a case of overlap FS–PCB syndrome with a novel ganglioside antibody profile of GM1 and GD1b antibodies, which typically are associated with other variant syndromes. This case suggests the need for all ganglioside antibodies to be tested in suspected variant Guillain–Barré syndromes. The antibodies may prove especially useful in cases in which the clinical diagnosis is ambiguous. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Short Report Source Type: research