Ultra high-frequency ultrasound of fascicles in the ulnar and radial nerves.

INTRODUCTION/AIMS: Ultra high-frequency ultrasound (UHFUS) has been demonstrated to allow easy visualization and quantification of median and digital nerve fascicles; however, there is a lack of normative data for other upper limb nerves. The purpose of this study was to use UHFUS to establish normative reference values and ranges for fascicle count and density within selected upper extremity nerves. METHODS: Twenty-one healthy volunteers underwent sonographic examination of the ulnar, superficial branch of the radial, and radial nerves on one upper limb using UHFUS with a 48 MHz linear transducer. The number of fascicles in each peripheral nerve and fascicle density were assessed. RESULTS: The mean fascicle number and fascicle density for each of the measured nerves was ulnar nerve at the wrist 11.7 and 2.0, ulnar nerve at the elbow 9.2 and 1.1, superficial branch of the radial nerve 7.3 and 2.5, and radial nerve at the spiral groove 4.2 and 0.8. A single significant association was observed between CSA and fascicle number in the ulnar nerve at the wrist (p = .023, r = 0.66). Neither fascicle number nor density could be predicted by age, sex, height, weight, or body mass index. DISCUSSION: UHFUS may help to establish a baseline of normative data on upper limb nerves that are not frequently biopsied due to their mixed motor and sensory functions and has the potential for increased understanding of nerve fascicular anatomy to improve diagnostic accuracy of focal nerve lesions, particularly those with selective fascicular involvement.

Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center.

Background and Objectives: Most published studies on the clinical utility of genetic testing for neuromuscular diseases (NMDs) focus on disease-specific cohorts and/or involve multiple centers. The aim of this study was to examine the clinical utility and diagnostic yield of genetic testing at a single, large neuromuscular center. Unlike previous studies, this study is unique in that it includes a broad array of patients at a single, large neuromuscular center, providing real-world data that may assist both neuromuscular specialists as well as general neurologists in decision-making regarding the need for genetic testing in patients with suspected NMDs. Methods: Genetic testing results were reviewed for all patients who underwent testing through a single genetic testing company for NMDs in this single laboratory at a large neuromuscular center from 2015 to 2020. Retrospective chart reviews were performed to determine whether genetic testing results conferred a specific NMD diagnosis, including cases where a variant of uncertain significance (VUS) was identified. Results: Genetic testing was pursued for 192 patients. A positive result, defined as a pathogenic mutation, a VUS, or both, was found in 77.1%. A definitive diagnosis was conferred in 35.9%. The most common testing indication was suspected neuropathy (53.3%), and the indication with the highest diagnostic yield was suspected myopathy (48.7%). Discussion: This study provides further evidence of the clinical utility of genetic testing for NMDs in a real-world setting with over one-third of patients tested receiving a definitive diagnosis. Over time, genetic testing will continue to become increasingly accessible, cost-effective, and sensitive, which will lead to even more utilization.

Neuromuscular Ultrasound of the Median Nerve at the Carpal Tunnel.

The use of neuromuscular ultrasound greatly enhances the evaluation of carpal tunnel syndrome as an adjunct diagnostic tool as it provides dynamic and structural information about the median nerve and its surrounding anatomy. Neuromuscular ultrasound aids in diagnostic accuracy (when used with electrodiagnostic testing) and offers etiologic information as a non-invasive, painless, cost-effective, and radiation-free imaging technology that can be easily carried out at the bedside for immediate interpretation. Neuromuscular ultrasound has the limitation of subjectivity, and the need for training and experience will affect the interpretation of results. This article describes a basic practical guide to visualizing the median nerve using neuromuscular ultrasound in a step-by-step manner to aid in the evaluation of carpal tunnel syndrome. Even though the use of ultrasound in the assessment of median nerve entrapment has been long established, there has been no recognized standard protocol. The present protocol aims to provide clear and concise instructions to describe a standard technique to visualize the median nerve through diagnostic ultrasound.

Neuromuscular Ultrasound for Peripheral Neuropathies.

Neuromuscular ultrasound (NMUS) is a diagnostic technique that is now commonly used to complement electrodiagnostic studies when evaluating for suspected peripheral nerve pathology. The use of NMUS has been described in focal mononeuropathies, polyneuropathies, and motor neuron disease. This article provides a general overview of NMUS for the evaluation of peripheral neuropathies based on clinical practice guidelines, primary literature, and expert opinion. The characteristic changes detected by NMUS are described in focal mononeuropathies (including entrapment and other causes), polyneuropathies (including demyelinating and axonal processes), and motor neuron disease.