Muscle & Nerve

INTRODUCTION/AIMS: Promoting regeneration after segmental nerve injury repair is a challenge, but improving angiogenesis could be beneficial. Macrophages facilitate regeneration after injury by promoting angiogenesis. Our aim in this study was to evaluate the feasibility and effects of transplanting exogenous macrophages to a segmental nerve injury. METHODS: Bone marrow-derived cells were harvested from donor mice and differentiated to macrophages (BMDM), then suspended within fibrin hydrogels to facilitate BMDM transplantation...

INTRODUCTION/AIMS: Individuals with dysferlinopathies, a group of genetic muscle diseases, experience delay in the onset of muscle weakness. The cause of this delay and subsequent muscle wasting are unknown, and there are currently no clinical interventions to limit or prevent muscle weakness. To better understand molecular drivers of dysferlinopathies, age-dependent changes in the proteomic profile of skeletal muscle (SM) in wild-type (WT) and dysferlin-deficient mice were identified...

No abstract text is available yet for this article.

INTRODUCTION/AIMS: Myasthenia gravis (MG) is an autoimmune disease affecting the neuromuscular junction (NMJ) of skeletal muscle. Complement activation is one of the mechanisms by which anti-acetylcholine receptor (anti-AChR) autoantibodies reduce synaptic transmission at the NMJ. In this study, we aimed to examine the activation of the complement pathways, including the classical pathway, as potential contributors to the pathogenesis of MG with anti-AChR antibodies. METHODS: In this single-center, observational study of 45 patients with anti-AChR-antibody-positive generalized MG, serum concentrations of major components of the complement pathways, including C1q, C5, C5a, soluble C5b-9 (sC5b-9), Ba, and complement factor H, were measured using an enzyme-linked immunosorbent assay...

INTRODUCTION/AIMS: Brachial plexus injury can seriously affect distal target muscle function, and long-term denervation leads to irreversible structural damage. In the present study, we examined the effect of hemin, a heme oxygenase-1 (HO-1) inducer, on intrinsic forepaw muscle atrophy induced by pan-plexus injury in juvenile rats, as well as its underlying mechanism. METHODS: A global brachial plexus avulsion (GBPA) model of rat was established, and thirty 6-wk-old male rats were randomly divided into five groups: control, GBPA plus scramble small intering RNA (siRNA), GBPA plus scramble siRNA plus hemin, GBPA plus HO-1 siRNA, and GBPA plus HO-1 siRNA plus hemin...

INTRODUCTION/AIMS: Multiple novel therapies have been approved for patients with myasthenia gravis. Our aim is to describe the early experience of efgartigimod use in acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR+ve gMG). METHODS: This multicenter retrospective study included AChR+ve gMG patients from five major neuromuscular centers who were treated with efgartigimod and had both pre- and post-efgartigimod myasthenia gravis activities of daily living (MG-ADL) scores...

INTRODUCTION: In this review we sought to characterize the lived experience of people living with FSHD (pwFSHD) to help clinicians to orient their services to the needs of these individuals. METHODS: Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. ENhancing Transparency in REporting the Synthesis of Qualitative research and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines informed the methodology...

INTRODUCTION/AIMS: Nutritional management of adults with Duchenne muscular dystrophy (DMD) is an important clinical issue. However, it is not clear which dysphagia-related factors should prompt introduction of alternative nutrition (AN). We aimed to determine which patients with DMD were introduced to AN. METHODS: This retrospective study included 56 patients with DMD (median age, 23.5 years). They were divided into patients able to continue oral feeding (OF) and those introduced to AN...

INTRODUCTION/AIMS: ADSSL1 myopathy (OMIM 617030) is a recently discovered, congenital myopathic disease caused by a pathogenic variant in ADSSL1. ADSSL1 is an enzyme involved in the purine nucleotide process and facilitates the conversion of inosine monophosphate to adenosine monophosphate within myocytes. Electrical impedance myography (EIM) is a portable, non-invasive, and cost-effective method for characterizing muscle integrity. Three ADSSL1 patients are presented in whom characterization of muscle integrity using EIM was performed...

INTRODUCTION/AIMS: We developed a patient- and physician-weighted consensus unit called the adverse event unit (AEU) that quantifies and compares adverse event (AE) burden among any group of medications in neurological patients. In this study we evaluated preliminary validity and feasibility of measuring AE burden with the AEU in myasthenia gravis (MG). METHODS: This is a single-center, prospective, 1-year, observational study of adult MG patients presenting for routine care between April 1, 2021 and March 31, 2022...

INTRODUCTION/AIMS: Research has proven that epidermal and transcutaneous stimulation can identify the function of Aβ and Aδ fibers (i.e., in diabetes) individually using different electrodes. In this study we aimed to determine the stability of perception thresholds when using such electrodes. METHODS: Twenty healthy volunteers participated in this study. The perception threshold of Aβ fibers (patch electrode) and Aδ fibers (pin electrode) was estimated 30 times during a period of 60 minutes...

INTRODUCTION/AIMS: Needle impedance-electromyography (iEMG) assesses the active and passive electrical properties of muscles concurrently by using a novel needle with six electrodes, two for EMG and four for electrical impedance myography (EIM). Here, we assessed an approach for combining multifrequency EMG and EIM data via machine learning (ML) to discriminate D2-mdx muscular dystrophy and wild-type (WT) mouse skeletal muscle. METHODS: iEMG data were obtained from quadriceps of D2-mdx mice, a muscular dystrophy model, and WT animals...

INTRODUCTION/AIMS: Some patients with Hirayama disease (HD) may have generalized joint hypermobility (GJH), which may excessively increase cervical range of motion (ROM) and then worsen the HD. The purpose of this study was to identify the frequency of GJH in HD patients and to analyze the effect of GJH on cervical ROM and the severity of HD. METHODS: The Beighton scoring system (≥4) was used to diagnose GJH in 84 HD patients. All patients underwent assessments of cervical-flexion/extension ROM; motor unit number estimation in bilateral abductor pollicis brevis (APB) muscles; handgrip strength; and the disabilities of the arm, shoulder, and hand assessments...

INTRODUCTION/AIMS: In our experience, patients with late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this report is to document this clinical experience including the presenting symptoms and misdiagnoses and to discuss the challenges in diagnosing patients with late-onset FSHD1. METHODS: We performed a retrospective medical record review and recorded clinical data on patients with a genetically confirmed diagnosis of FSHD1, who began to have symptoms at 50 years of age or older, and either had no family history of FSHD1 or had a history of an undiagnosed weakness in a family member...

Postural orthostatic tachycardia syndrome (POTS) is a diagnosis with a wide spectrum of symptomatology and a variety of clinicopathological associations, including hereditary, autoimmune, and infectious associations. There is little consensus regarding the appropriate diagnostic approach to the condition. The aim of this work was to provide guidance on the initial diagnosis and when and how to expand diagnostic testing. We define the "typical" POTS patient as younger, female, and with a normal examination apart from joint hyperextensibility...

INTRODUCTION/AIMS: To date, there is minimal literature in following resolution of partial conduction block (PCB) in compression neuropathy. We investigated a case of cyclist's palsy with PCB from compression using serial nerve conduction studies to monitor recovery. METHODS: Clinical recovery was monitored concomitant with compound muscle action potential (CMAP) amplitudes that were recorded from 3 ulnar-innervated muscles (first dorsal interosseous [FDI] 6 days post-onset, palmar interosseus [PI] 16 days post-onset, and abductor digiti minimi [ADM]) in both limbs...

No abstract text is available yet for this article.

INTRODUCTION/AIMS: As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for clinical monitoring. Our aim was to develop and validate the Facioscapulohumeral Muscular Dystrophy-Health Index (FSHD-HI) as a multifaceted patient-reported outcome measure (PRO) designed to measure disease burden in adults with FSHD...

INTRODUCTION/AIMS: Hourglass-like constrictions (HGCs) of involved nerves in neuralgic amyotrophy (NA) (Parsonage-Turner syndrome) have been increasingly recognized with magnetic resonance neurography (MRN). This study sought to determine the sensitivity of HGCs, detected by MRN, among electromyography (EMG)-confirmed NA cases. METHODS: This study retrospectively reviewed records of patients with the clinical diagnosis of NA, and with EMG confirmation, who underwent 3-Tesla MRN within 90 days of EMG at a single tertiary referral center between 2011 and 2021...

INTRODUCTION/AIMS: Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) is an autosomal recessive disease chiefly caused by variants of ETFDH affecting fatty acid metabolism. In our cohort, hyperhomocysteinemia (HHcy) was common. In this study we aimed to identify the association between RR-MADD and HHcy. METHODS: We performed a retrospective review of 13 patients with RR-MADD. Thirty-three healthy controls were recruited, and logistic regression was used to investigate the association between RR-MADD and HHcy...