News Express

Science News: Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis

July 07, 2023

In this study, the authors conducted a population-based study on inclusion body myositis (IBM) with the primary aims to define the disease prevalence, survival rate, and incidence, and to investigate the symptom profiles associated with disease duration and sex over a 33-year period. A total of 128 patients fulfilled the clinicopathological definition of IBM.

Science News: Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec

June 26, 2023

The article summarizes the development, safety, and efficacy of intravenously administered drugs using the Adeno-associated virus vector for SMA type 1 and intrathecal administration for SMA type 2.

Science News: Diagnostic Performance of Preoperative Ultrasound for Traumatic Brachial Plexus Root Injury: A Comparison Study With an Electrophysiology Study

June 09, 2023

This retrospective study aimed to investigate the diagnostic performance of preoperative ultrasound (US) compared with electrophysiology study (EPS) in the assessment of traumatic brachial plexus (BP) root injury. Patients with suspected traumatic BP root injury who underwent preoperative US and EPS examination were included in the analysis. Each BP root was assessed via US and EPS as either completely or incompletely injured.

Science News: Physical Activity in People With Motor Neuron Disease: Validity of the Physical Activity Scale for the Elderly as a Measuring Tool

June 02, 2023

This prospective, observational study investigated the physical activity scale for the elderly (PASE) as a tool to measure physical activity in patients with motor neuron disease (MND). The PASE is a brief questionnaire that assesses the type, frequency, duration, and intensity of the physical activities chosen by the patient over the previous week to assign a score ranging from 0-793, with higher scores indicating greater physical activity.

Science News: Systemic Inflammatory Markers in Neuropathic Pain, Nerve Injury, and Recovery

May 15, 2022

Findings of this article highlight the potential role of systemic immune dysregulation and the role of cytokines in focal nerve injury and chronic neuropathic pain. The study provides important information relevant to neuropathic pain and possible biomarkers for future studies. Findings of this article highlight the potential role of systemic immune dysregulation and the role of cytokines in focal nerve injury and chronic neuropathic pain. The study provides important information relevant to neuropathic pain and possible biomarkers for future studies. 

Science News: Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

May 15, 2022

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies, presenting as slowly progressive, often asymmetric muscle weakness. Although a gain-of-toxic function secondary to aberrant DUX4 expression is the known etiology, exact pathomechanism is not known. Inflammatory reactions are sometimes seen in muscle biopsies, leading to speculation of the role of inflammatory pathway activation in disease pathogenesis. This retrospective study analyzed serum cytokines in 100 FSHD1 patients to identify potential biomarkers. 

Science News: Effects of Transcranial Direct Current Stimulation Combined with Neuromuscular Electrical Stimulation on Upper Extremity Motor Function in Patients with Stroke

April 28, 2022

This study determines the treatment effects of transcranial direct current stimulation (tDCS) combined with neuromuscular electrical stimulation (NMES) on the motor function of upper extremity (UE) in persons with stroke. The study allows for additive tools physicians can utilize to optimize and improve upon conventional rehabilitation.

Science News: Home-Based Exercise in Autoimmune Myasthenia Gravis: A Randomized Controlled Trial

April 28, 2022

Currently, no evidence-based guideline exists on the amount and type of exercise in the patient with generalized MG and effects on the quality of life. In this study, the authors tried to analyze home-based exercise over a home rowing program over 3 months. Although the exercise was well tolerated, the intention to treat analysis revealed no evidence of improved health-related quality of life.

Science News: Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-Up

April 18, 2022

This is a small 2-year follow-up study of genetically confirmed facioscapulohumeral dystrophy (FSHD) cases from the Netherlands. On clinical examination, facial weakness was observed as a sign of disease progression. FSHD clinical score 0-15 and muscle ultrasound Z score appeared to be most promising outcome measures of progression. Despite disease progression, children may still notice improvement in functional capacity, including the 6-minute walk test. Pain, fatigue, and decreased quality of life were common symptoms during follow-up. 

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

April 18, 2022

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

April 03, 2022

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: 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.

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.

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.