Muscle & Nerve最新文献

Magnetic resonance neurography (MRN) is increasingly used in clinical practice for the evaluation of patients with a wide spectrum of peripheral nerve disorders. This review article discusses the technical aspects of MRN highlighting the core sequences performed for clinical care. A robust, high-resolution, heavily T2-weighted fluid-sensitive sequence performed on a 3.0 Tesla magnet system remains the main workhorse MRN sequence. In specific clinical scenarios, adjunct techniques such as diffusion-weighted imaging can be added to a protocol for disease characterization. In addition, gadolinium-based contrast material can also be administered for the purposes of image optimization (suppress adjacent vascular signal) and disease characterization. Technical modifications to field of view and planes of imaging can be made based on the clinical question and discussion with the radiologist(s). On fluid-sensitive MRN sequences, a normal peripheral nerve exhibits iso- to minimally hyperintense signal relative to skeletal muscle with a predictable trajectory, preserved "fascicular" architecture, and tapered caliber from proximal to distal. Peripheral nerve abnormalities on MRN include alterations in signal, caliber, architecture, diffusion characteristics as well as enhancement and provide information regarding the underlying etiology. Although some MRN findings including nerve hyperintensity and long-segmental enlargement are nonspecific, there are certain diagnoses that can be made with high certainty based on imaging including benign peripheral nerve tumors, high-grade peripheral nerve injury, and intraneural ganglia. The purpose of this article is to familiarize a neuromuscular clinician with fundamentals of MRN acquisition and interpretation to facilitate communication with the neuromuscular radiologist and optimize patient care.

Introduction/aims: Ultrahigh-frequency ultrasound (UHFUS) allows improved visualization and higher resolution images of nerve fascicles than standard high-frequency ultrasound. Dynamic UHFUS may detect the presence of fascicular entwinement, the recently described sonographic phenomenon of pathologic fascicular rotation seen in neuralgic amyotrophy. This pilot study aims to establish normative reference values and degrees of fascicular rotation for the proximal portions of commonly involved upper limb nerves in healthy controls using UHFUS.

Methods: Twenty healthy participants underwent sonographic examination of the median, musculocutaneous, and radial nerves on both upper limbs using UHFUS with a 48 MHz linear transducer. A single rater assessed the degree of fascicular rotation in each peripheral nerve.

Results: Fascicular rotation appears to occur in the proximal portion of each of these nerves. The mean degree of fascicular rotation for each of the measured nerves was median 94.5°, musculocutaneous 97.9°, and radial 50.9°. The maximum observed fascicular rotation in each nerve was 180°. Age, sex, height, weight, body mass index, and race did not predict degree of fascicular rotation (all p > .103). A single-factor ANOVA test showed the degree of fascicular rotation differed in median, musculocutaneous, and radial nerves (F = 4.748, p = .011).

Discussion: UHFUS allows quantification of fascicular rotation in healthy controls in the median, musculocutaneous, and radial nerves, and provides normative data. The data from this pilot study may serve as control data for future comparative studies in conditions where fascicular rotation occurs, such as neuralgic amyotrophy.

Limb-girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious. This review aims to provide an overview of the currently available motor rehabilitation strategies for the most common subtypes of LGMD. To identify relevant articles, we performed a systematic search in PubMed, Embase, Cochrane Library, and Web of Science, focusing on muscular and respiratory interventions. The search resulted in 560 potentially relevant articles, of which 16 were included in the review. Eight studies concentrated on neuromuscular functional rehabilitation therapy programs, seven combined both neuromuscular rehabilitation and interventions to maintain or enhance respiratory functionality and one focused on respiratory intervention only. Altogether, the papers examined offered a comprehensive view on the rehabilitative strategies available and provided an indication of the most valuable practices to deal with patients' health and needs. Upon analysis, we conclude that, when tailored to individual needs, muscle training can enhance strength and functional abilities, positively impacting psychological well-being. However, generic protocols may lead to limited benefits, fatigue, pain, and compliance issues. Moreover, early management of respiratory symptoms and personalized respiratory physiotherapy can enhance patients' well-being and their capability to participate in muscle training exercises. Future studies should not only refine rehabilitation approaches but also assess their impact on patients' quality of life, including psychological factors like depression and self-esteem.

Introduction/aims: Fluctuating symptoms and fatigue are common issues in myasthenia gravis (MG), but it is unclear if these symptoms are related to physical activity or sleep patterns. This study sought to determine the day-to-day relationship between patient-reported symptoms and physical activity and sleep over 12 weeks.

Methods: Sixteen participants with generalized MG wore a wrist-mounted accelerometer continuously for the study duration and reported their symptoms and fatigue each evening. Cumulative link mixed models were used to analyze whether clinical and demographic characteristics, physical activity, and sleep were related to symptom severity and fatigue over the study period. Three types of models were constructed: a cohort model, a model in which data was scaled to each participant, and individual models.

Results: The cohort model indicated that higher disease severity, female sex, more comorbidities, less physical activity, more inactive time, and lower quantity of sleep were significantly associated with increased symptom severity and fatigue (p < .05). However, in the within-participant scaled model, there were almost no significant associations with physical activity or sleep. In the individual models, some participants showed similar results to the cohort model, but others showed no associations or the opposite response in some variables.

Discussion: While physical activity and sleep were associated with self-reported symptoms and fatigue within this population, this was not necessarily applicable to individuals. This demonstrates the importance of an individualized analysis for determining how physical activity and sleep may impact outcomes in MG, with implications for clinical and self-management.

The landscape of care for children and adults with neuromuscular disorders (NMDs) is rapidly changing as more disease-modifying treatments (DMTs) become available. These DMTs provide hope and opportunity for evolving phenotypes, though none (yet) are curative. Rehabilitation has been the standard of care for patients with NMDs and should remain so, even with the advent of novel DMTs. An interdisciplinary rehabilitation approach is holistic and comprehensive, addressing functional needs, musculoskeletal complications, pain, durable medical equipment, and bracing needs. This care will continue to be essential for patients who experience impairments and disability, despite receiving DMTs. Additionally, we must consider how to care for a new rapidly expanding cohort of patients aging with NMDs. Children with NMDs are expected to live longer into adulthood; a population that we may not have the workforce to support at this time. At this point, we have the perfect opportunity to reemphasize the importance of rehabilitation in the care of persons with NMDs, while we reexamine historical rehabilitation practices and innovatively deliver services to optimize the effects of these high-cost DMTs.

Neuralgic amyotrophy (NA) is an underrecognized peripheral nerve disorder distinguished by severe pain followed by weakness in the distribution of one or more nerves, most commonly in the upper extremity. While classically felt to carry a favorable prognosis, updates in research have demonstrated that patients frequently endure delay in diagnosis and continue to experience long term pain, paresis, and fatigue even years after the diagnosis is made. A transition in therapeutic approach is recommended and described by this review, which emphasizes the necessity to target compensatory abnormal motor control and fatigue by focusing on motor coordination, energy conservation strategies, and behavioral change, rather than strength training which may worsen the symptoms. The development of structural hourglass-like constrictions (HGCs) on imaging can help confirm the suspected clinical diagnosis, and in association with persistent weakness and limited recovery on electrodiagnostic testing may be considered for surgical consultation. Given the complex nature of management, a multidisciplinary approach is described, which can provide an optimal level of care and support for patients with persistent symptoms from NA and allow more unified guidance of rehabilitation and surgical referrals.

Rippling muscle disease (RMD) is a rare disorder of muscle hyperexcitability. It is characterized by rippling wave-like muscle contractions induced by mechanical stretch or voluntary contraction followed by sudden stretch, painful muscle stiffness, percussion-induced rapid muscle contraction (PIRC), and percussion-induced muscle mounding (PIMM). RMD can be hereditary (hRMD) or immune-mediated (iRMD). hRMD is caused by pathogenic variants in caveolin-3 (CAV3) or caveolae-associated protein 1/ polymerase I and transcript release factor (CAVIN1/PTRF). CAV3 pathogenic variants are autosomal dominant or less frequently recessive while CAVIN1/PTRF pathogenic variants are autosomal recessive. CAV3-RMD manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic creatine kinase elevation to severe muscle weakness. Overlapping phenotypes are common. Muscle caveolin-3 immunoreactivity is often absent or diffusely reduced in CAV3-RMD. CAVIN1/PTRF-RMD is characterized by congenital generalized lipodystrophy (CGL, type 4) and often accompanied by several extra-skeletal muscle manifestations. Muscle cavin-1/PTRF immunoreactivity is absent or reduced while caveolin-3 immunoreactivity is reduced, often in a patchy way, in CAVIN1/PTRF-RMD. iRMD is often accompanied by other autoimmune disorders, including myasthenia gravis. Anti-cavin-4 antibodies are the serological marker while the mosaic expression of caveolin-3 and cavin-4 is the pathological feature of iRMD. Most patients with iRMD respond to immunotherapy. Rippling, PIRC, and PIMM are usually electrically silent. Different pathogenic mechanisms have been postulated to explain the disease mechanisms. In this article, we review the spectrum of hRMD and iRMD, including clinical phenotypes, electrophysiological characteristics, myopathological findings, and pathogenesis.

Introduction/aims: Amyotrophic lateral sclerosis (ALS) exhibits selective muscle weakness. The weak shoulder and arm sparing signs, assessed by a single experienced neurologist, have been reported to be superior to previous signs in sensitivity and specificity. However, it is unknown whether the same results are observed when assessed by multiple neurologists.

Methods: Subjects were retrospectively identified from our department's inpatient database from 2014 to 2023. Medical Research Council (MRC) scores of the deltoid (Del), biceps brachii (BB), triceps brachii (TB), and first dorsal interosseous (FDI) muscles were evaluated. The weak shoulder sign was defined as positive when Del was weaker than BB and TB. The arm sparing sign was defined as positive when both Del and FDI were weaker than BB and TB. Sensitivity was analyzed in all ALS patients and in subgroups based on the region of symptom onset, presence or absence of upper motor neuron (UMN) signs, and the Japanese ALS Severity Classification.

Results: Seventy-one patients with ALS were identified. Eight neurologists and three neurology residents evaluated each patient's MRC scores. The weak shoulder and arm sparing signs were observed in 72% and 48% of patients, respectively, with no significant difference in sensitivity across patient subgroups.

Discussion: The weak shoulder and arm sparing signs showed high and moderate sensitivity, respectively, consistent with a previous report, even when evaluated by multiple examiners. This expands the clinical utility and increases the reliability of these signs, potentially contributing to accurate ALS diagnosis when combined with other clinical features and objective assessments.