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AANEM News Express

Science News: Mitochondrial Disease in Adults: Recent Advances and Future Promise

This article provides an up-to-date review of the clinical and biochemical approach to mitochondrial disorders in adults. The clinical approach algorithm is especially useful. The NM neuro-imaging features will also help clinicians.

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

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: Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-Analysis

This is a systemic review of published literature on mortality in Duchenne muscular dystroph (DMD) up to July 2020 which focused on publications with Kaplan-Meier (KM) survival curves with age as a time scale. Of the 1,177 articles identified, 14 publications met the inclusion criteria providing data on 2,283 patients of whom 1,049 had died. Median life expectancy was 22 years. Analysis stratified by 3 time periods showed increased life expectancy in more recent patient populations born after 1990 had a median life expectancy of 28.1 years.

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

Authors reviewed literature regarding associations between UNH and UNE. Studies diagnosing UNH both with physical exam (3) and US (17) were included. Studies looking at post op findings, hereditary neuropathy with liability to pressure palsy, polyneuropathy, trauma, and pediatric cases were included.

Analysis revealed no association between UNH and UNE. However, post hoc analysis of cross-sectional areas (CSA) of the ulnar nerve in seven studies revealed that the difference in CSA between stable and UNH was doubled in the patients with UNE vs. those without.

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

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

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: Nitrous Oxide-Induced Myeloneuropathy

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

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.

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

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

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.