News Express

Science News: Clinical and Genetic Characteristics in Young, Glucocorticoid-Naïve Boys With Duchenne Muscular Dystrophy

April 03, 2022

This article reports the genotype-phenotype characteristics of the largest international cohort of Duchenne muscular dystrophy (DMD) boys (participants in the Finding the Optimum Corticosteroid Regime for Duchenne Muscular Dystrophy (FOR-DMD)) pretreated with glucocorticoids. Out of 196 boys recruited, 193 were found to have a DMD mutation.

Science News: Ultrasound First for Pediatric Patients in an Electrodiagnostic Laboratory

March 20, 2022

Authors investigated the impact of a US-first approach, adopted in their EMG lab, for pediatric patients. They retrospectively identified pediatric patients who were examined via US prior to EDX tests and those undergoing EDX tests initially. Authors compared the number of nerves stimulated in NCS and the number of muscles sampled in EMG between groups. They also presented two cases to demonstrate the impact of using a US-first approach.

Science News: Is There an Association Between Ulnar Nerve Hypermobility and Neuropathy at the Elbow?

March 20, 2022

This is a review of literature regarding associations between ulnar nerve hypermobility (UNH) and ulnar neuropathy at the elbow (UNE). Case control, cohort, and RCTs were included. Studies diagnosing UNH both with physical exam (3) and US (17) were included. Diagnosis was made with both electrodiagnostic studies and ultrasonography. Studies looking at post op findings, hereditary neuropathy with liability to pressure palsy, polyneuropathy, trauma, and pediatric cases were included. Cadaveric or animal studies were excluded.

Science News: Nitrous Oxide-Induced Myeloneuropathy

March 06, 2022

Nitrous oxide (NO, also known as laughing gas, balloons, whippets) abuse is increasingly recognized as an issue worldwide. Prolonged NO misuse inactivates vitamin B12, causing combined subacute degeneration. The authors studied a cohort of 20 patients with NO misuse. The average patient age was 24 years and mean canister consumption was 148 per day for 9 months. Common presentation included sensory symptoms with paresthesias and gait unsteadiness. In severe cases, patients were bedbound.
 

Science News: Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center

March 06, 2022

This is a retrospective study of 12 patients with a diagnosis of hereditary transthyretin-mediated (hATTR) amyloidosis at a single center in Austin, Texas. All patients were initially diagnosed with either polyneuropathy (83%) or myopathy (25%). Eventually these patients were all diagnosed with haTTR amyloidosis. The median time to diagnosis for these patients was 5 years (up to 10 years) during which their mobility had declined significantly.

Remembering Jun Kimura

March 06, 2022

AANEM Past President and electrodiagnostic pioneer Jun Kimura, MD, passed away on Thursday, March 3, 2022, at the age of 87.

"Dr. Kimura is truly a legend in both neurology and electrodiagnostic medicine and his impact on our disciplines cannot be overstated. His selfless and tireless teaching improved the quality of medical care across the globe. He was both a great person and truly good person that touched so many lives. I know I speak for many when I say that we will deeply miss our dear friend and mentor," said Dr. Jeff Strakowski.

Science News: An Approach to Assessing Immunoglobulin Dependence in Chronic Inflammatory Demyelinating Inflammatory Polyneuropathy

March 06, 2022

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a peripheral nerve disease coursing with weakness and impaired sensation. The course tends to be relapsing-remitting or progressive if left untreated. While there is evidence to support treatment with IVIg, plasma exchange, or steroid therapy and consensus on how to identify and monitor patients needing a protracted treatment course, data on when and how to stop therapy and identify remission is lacking. The authors of this paper sought to elucidate IVIg treatment cessation strategies in CIDP.

Science News: Pure Motor Onset and IgM-Gammopathy Occurrence in Multifocal Acquired Demyelinating Sensory and Motor Neuropathy

February 20, 2022

This study investigates patients with multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy with and without monoclonal gammopathy of uncertain significance (MGUS). Of 76 patients with MADSAM, 53% had pure motor, 16% pure sensory, 30% sensory-motor and 1% cranial. Motor onset patients were initially diagnosed with multifocal motor neuropathy (MMN). MGUS occurred in 25% (89% IgM) associating with ganglioside autoantibodies. Median time to sensory involvement in motor onset patients was 18 months.

Patient Safety: Statins and Immune-Mediated Necrotizing Myopathy

February 20, 2022

A 66 year old man with hypothyroidism is referred for an evaluation of severe muscle pain and proximal leg weakness which started shortly after initiating simvastatin treatment. What is most helpful to differentiate a toxic necrotizing myopathy from an immune mediated necrotizing myopathy?

Science News: IgG1 Pan-Neurofascin Antibodies Identify a Severe Yet Treatable Neuropathy With a High Mortality

February 20, 2022

The authors in this study tested patients with suspected inflammatory neuropathies for IgG antibodies against nodal (NF186) and paranodal (NF155, CNTN1 and Caspr1) cell adhesion molecules using a live, cell-based assay (CBA) and found eight patients (1.2%) with IgG1 antibodies to both NF186/NF140 isoforms and NF155 isoforms, but no IgG3 or IgG4 subclass antibodies. Clinical and laboratory and histopathological features were assessed and compared with seronegative and patients with other nodal/paranodal antibodies.

Science News: Prediagnostic Neurofilament Light Chain Levels in Amyotrophic Lateral Sclerosis

February 06, 2022

This study focused on pre-diagnostic biomarkers in amyotrophic lateral sclerosis (ALS). This matched case-control study included 84 individuals who developed ALS during follow-up and had available plasma samples prior to disease diagnosis. For each ALS case, a randomly matched control was selected. Neurofilament (NfL) in these pre-diagnostic plasma samples were measured and adjusted for body mass index, smoking physical activity, etc. Higher NfL levels were found to be associated with a high ALS risk within 5 years of ALS diagnosis. 

Science News: Ratio of Urinary N-terminal Titin Fragment to Urinary Creatinine is a Novel Biomarker for Amyotrophic Lateral Sclerosis

February 06, 2022

Sensitive and specific disease biomarkers for amyotrophic lateral sclerosis (ALS) are lacking. There has been ongoing research in the past several years looking for them. Titin is a giant myofibrillar protein in skeletal muscle. Elevated levels of urinary N-terminal fragment of titin has been reported in degenerative conditions, such as Duchene muscular dystrophy (DMD). This study looked at the validity and reliability of urinary N-terminal titin fragment as a biomarker in ALS.

Science News: Frequency of Neurologic Manifestations in COVID-19: A Systematic Review and Meta-Analysis

January 25, 2022

More than 1 year into the coronavirus disease 2019 (COVID-19) pandemic, severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) has caused more than 200 million cases and 4.28 million deaths across 220 countries as of August 9, 2021. This article is a systemic review and meta-analysis to obtain pooled prevalence estimates to understand the variation in reported frequencies of various neurologic manifestations in patients with COVID-19 across different groups in literature published from December 31, 2019, to December 15, 2020.

Science News: Association Between SARS-CoV-2 Infection and Immune-Mediated Myopathy in Patients Who Have Died

January 25, 2022

This is a case-control, postmortem (within 6 days) study in Germany focusing on the skeletal (either deltoid or quadriceps) and cardiac muscle pathology in SARS-CoV-2 patients. This study shows SARS-CoV-2 may be associated with a post-infectious, immune-mediated myopathy. 

Science News: Free-Living Physical Activity and Sedentary Behavior in Autoimmune Myasthenia Gravis: A Cross-Sectional Study

January 06, 2022

Physical activity in patients with myasthenia gravis (MG) can be limited due to fatigability and undertreated disease. This prospective cross-sectional study looked at physical activity patterns of women with MG.

Significant Pay Cuts Averted for 2022

December 29, 2021

In response to a large, concerted effort on the part of many physician groups, including AANEM, Congress took action at the very end of 2021 to avoid an impending nearly 10% cut to Medicare payments that would have gone into effect January 1, 2022.

On December 21, 2021, Congress passed the Protecting Medicare and American Farmers from Sequester Cuts Act which avoided a 4% statutory cut from the PAYGO (Pay-As-You-Go Act of 2010) provisions, extended the moratorium on the 2% Medicare payment sequester, and mitigated the significant 3.75% reduction in the Medicare conversion factor.

AANEM State Liaisons – Virtual Visits to Capitol Hill

December 29, 2021

AANEM returned to Washington, D.C. virtually for its 8th Annual Day on Capitol Hill in November. AANEM State Liaisons met with key legislative offices throughout the month of November to educate Senators and Representatives about electrodiagnostic (EDX) medicine and the current challenges facing the patient and professional community. 

The Liaisons’ primary “ask” of the offices was for support of AANEM’s continued efforts to advance quality standards for EDX medicine to both improve patient care and stop fraud and abuse in this area. Nearly every office was very supportive of this cause and seem poised to take actionable steps in support of the effort in the new year.

Science News: European Academy of Neurology/Peripheral Nerve Society Guideline on Diagnosis and Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Report of a Joint Task Force-Second Revision

December 28, 2021

CIDP diagnosis is based on clinical, electrophysiological and other laboratory investigations. The EFNS/PNS diagnostic criteria (2010) for CIDP has been found to have high sensitivity and specificity. The second revision has been recently published with goal in improving diagnostic accuracy and treatment outcome.

Science News: Critical Illness Polyneuropathy, Myopathy and Neuronal Biomarkers in COVID-19 Patients: A Prospective Study

December 14, 2021

This article determines the risk factors for developing critical illness neuropathy (CIN) and/or myopathy (CIM) in 111 COVID patients admitted to an ICU in Sweden, as well as differences between COVID and non-COVID patients with ICU weakness.

Science News: Clinical Features and Treatment Response in Immune-Mediated Small Fiber Neuropathy with Trisulfated Heparin Disaccharide or Fibroblast Growth Factor Receptor 3 Antibodies

December 14, 2021

The objective of the article was to describe clinical features and treatment responses in cryptogenic small fiber neuropathy (SFN) cases harboring novel antibodies to trisulfated heparin disaccharide (TS-HDS) and fibroblast growth factor receptor 3 (FGFR-3).