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Sciatic and Femoral Neuropathies Due to Limb-Positioning Device
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Letters to the Editor Source Type: research

Impact of COVID- 19 Infection Among Hospitalized Amyotrophic Lateral Sclerosis Patients
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Letters to the Editor Source Type: research

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family
Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A> G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1–39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenot...
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Short Report Source Type: research

Long-standing Multifocal Motor Neuropathy Presenting With Delayed Clinical Features of Anti–Myelin-Associated Glycoprotein Neuropathy and Elevated Anti–Myelin-Associated Glycoprotein Antibody Titers
This report describes a patient with long-standing MMN who subsequently developed clinical features of anti-MAG neuropathy. This suggests that subtypes of chronic inflammatory neuropathies may not be sharply defined. In addition, a presentation of MMN with anti-MAG titers may be a prognostic indicator of poor response to standard MMN treatment. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Short Report Source Type: research

Lambert–Eaton Myasthenic Syndrome and Dermatomyositis With Anti–TIF1-gamma Autoantibody: A Unique Association of Autoimmune Neuromuscular Conditions Without Malignancy
We present the first reported case of a patient with antivoltage gated calcium channel antibody positive LEMS who subsequently developed DM with antitranscription intermediary factor 1-gamma (anti–TIF1-γ) antibodies. Interestingly, both conditions occurred without evidence of malignancy. This diagnosis of LEMS and DM with characteristic clinical, electrodiagnostic, and histopathological evidence led to a beneficial modification of the patient's therapeutic regimen. Due to the fact that overlapping concurrent neuromuscular conditions are rare, a high clinical suspicion is needed to identify, evaluate (including appropria...
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Case Review Source Type: research

Autoimmune Small Fiber Neuropathy Associated With Ehlers–Danlos Syndrome Treated With Intravenous Immunoglobulins
We report 2 cases of patients with EDS with presumed immune-mediated SFN, successfully treated with IV immunoglobulins. There is a stark need for further investigational studies into immunosuppressant treatments for immune-mediated SFN as well as the link between EDS and immune-mediated SFN. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Case Review Source Type: research

Acute Axonal Motor Neuropathy With Completely Reversible Conduction Failure—Is It Really Axonal?
We present the case of a 24-year-old man with a 3-day history of limb weakness and flaccid tetraparesis, hyporreflexia, and gait difficulties (Hughes grade 3) in the examination. Electromyography at presentation revealed severe amplitude reduction in distal compound muscle action potentials of several nerves without features of demyelination, fulfilling electrodiagnostic criteria for acute axonal motor neuropathy. The patient was treated with immunoglobulin and recovered completely 21 days after symptom onset. Electromyography at this timepoint showed normalization of compound muscle action potentials without increased tem...
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Case Review Source Type: research

What Is in the Neuromuscular Junction Literature?
This update covers recommendations for myasthenia gravis (MG) in patients with coronavirus 2019 disease as well as reports of the clinical features of patients with MG and coronavirus 2019. Updated advisory committee recommendations for the use of thymectomy in generalized MG are also provided. Other MG topics include lipoprotein receptor-4 and agrin antibody associations, factors influencing conversion of ocular to generalized MG, the use of rituximab for more recent onset disease, immunoglobulins for maintenance therapy, and fatigue and depression. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Review Article Source Type: research

Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients
Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder due to a (CCTG)n repeat expansion in intron 1 of the CNBP gene. In this article, we report the clinicopathologic findings in 50 patients seen at a single site over a 27 year period. DM2 was the fifth most common type of muscular dystrophy seen at our center with a 5-fold lower frequency as compared to DM1. Age of symptom onset ranged from 15 to 72 years, and the mean duration between symptom onset and diagnosis was 7.4 years. Weakness referable to the proximal lower extremities was the presenting symptom in 62% of patients. The degree of generalized weakness...
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Original Article Source Type: research

Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy
Conclusion: We conclude that placement of an Ommaya port is a viable option for patients who have challenges for access to intrathecal space. Practical innovations have the potential to control administration costs, achieve therapeutic value, and promote patient safety. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Original Article Source Type: research

Myasthenia Symptom Burden, Fatigue, and Sleep: Are They Related?
Conclusions: There is a moderate positive correlation between various MG-specific outcome measures and fatigue severity. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 25, 2021 Category: Neurology Tags: Original Article Source Type: research

Painless Diabetic Lumbosacral Radiculoplexus Neuropathy: A Manifestation of Treatment-Induced Neuropathy of Diabetes
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Acute Motor Axonal Neuropathy Related to COVID-19 Infection: A New Diagnostic Overview
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Spinal Muscular Atrophy With Exaggerated Deep Tendon Reflexes and Scapular Winging: An Atypical Presentation
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Relapsing Pattern of Acute Motor Axonal Neuropathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research