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.

Charcot–Marie–Tooth Disease Type 4J and Multiple Sclerosis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Monozygotic Twins Discordant for Kennedy Disease: A Case Report
We report the unusual genetic and phenotypic expression in 2 monozygotic twins. Genetic analysis has shown abnormal expansion of CAG repeat in the first exon of the androgen receptor gene on chromosome X different between the twin brothers (44, respectively, 46) but with large phenotypical differences including onset age, evolution, and clinical features. Disease began at age 31 for the first brother, respectively, and at 56 years for the second one and consisted of muscle wasting and progressive impairment of walking. In addition, the second brother did not manifest bulbar involvement 3 years after clinical onset and has ...
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Short Report Source Type: research

Distal Cervical Spondylotic Amyotrophy: Case Reports Demonstrating Clinical/Imaging Segmental Discrepancy
We present a series of 3 very similar cases where unilateral pure distal lower motor neuron paresis and atrophy was limited to the C8-T1 myotomes, without long-tract signs. Electrodiagnostic studies were in keeping with a restricted anterior horn cell disorder. Neuroimaging showed very focal spinal cord compression at the C6-7 level. Two patients underwent surgical decompression. All 3 patients were improved or stable at follow-up. Distal spondylotic amyotrophy is characterized by equal involvement of thenar and hypothenar muscles, in contrast to amyotrophic lateral sclerosis or Hirayama disease. We discuss the striking 2-...
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Case Review Source Type: research

A Case of Triple-Negative Myasthenia Gravis Lambert-Eaton Overlap Syndrome With Negative Agrin and LRP-4 Antibodies
We present a patient with MLOS who tested negative for all 5 (AChR, MuSK, VGCC, Agrin, and LRP-4) serologic markers. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Case Review Source Type: research

Significance of Asymptomatic Hyper Creatine-Kinase Emia
Conclusions: Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Review Article Source Type: research

What Is in the Literature
This installment of what is in the literature is on amyotrophic lateral sclerosis (ALS). The pathophysiology of ALS remains open and the role of genes, a foothold into pathophysiology, but there are>22 genes identified, and the mechanisms are not known for any. Despite the lack of a firm understanding of pathophysiology, drug trials continue based on possible mechanisms, but no new drugs beyond riluzole and edaravone have been positive in phase 3 trials. There are a number of formal stem cell trials underway, and the results of a phase 2 trial are described. Major efforts to make trials more sensitive are being considered....
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Review Article Source Type: research

Evaluation of Quality of Life in Patients With Chronic Inflammatory Demyelinating Polyneuropathy in Iran
Conclusions: Our patients achieved low scores in both the physical and mental aspects of QoL compared with other studies. We found a significant correlation between the physical domain of the SF-36 score and muscle strength of the hand, hip, and foot muscle group and with total manual muscle testing, suggesting that physical disability is the most crucial factor affecting QoL. Also, there was a significant negative association between the duration of the disease and the physical domain. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Original Article Source Type: research

Intraepidermal Nerve Fiber Density in Postmortem Skin: A Novel Approach
Conclusions: IENFD measurement in postmortem skin is feasible and may be used to study the epidemiology of SFN. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Original Article Source Type: research

Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience
Conclusions: Even though a rare condition, the prevalence is disproportionally frequent in certain ethnic groups and in certain regions; thus, we report our experience of OPMD patients in Southern California. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Original Article Source Type: research

Respiratory System, Sleep Quality, Restless Leg Syndrome, and Depression–Anxiety Assessment in Charcot Marie Tooth Disease
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

King David and His Autonomic Neuropathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Venous Compression of the Sciatic Nerve
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Guillain–Barre Syndrome Triggered by West Nile Virus: A Rare Case Scenario
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Monosialosyl Antibody in a Case Mimicking CANOMAD Syndrome
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Anti-GQ1b Spectrum Disorders
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research