Muscle & Nerve最新文献

Introduction/aims: In Guillain-Barré syndrome (GBS), patients with dysautonomia demonstrate sympathetic overactivity (SO). This study assessed the role of prazosin (α₁-blocker) in the management of SO.

Methods: This cohort study was conducted from January 2022 to September 2023. Thirty-two GBS patients with SO received prazosin (2.5-10 mg three times a day) (prazosin group). For comparison, we included historical controls that included 33 GBS patients having SO with similar baseline characteristics, including median age and disability, who did not receive prazosin, from a GBS registry of patients admitted during February 2018-December 2021. The primary endpoint was days to resolution of SO. Secondary endpoints were daily fluctuations in the systolic (SBP) and diastolic blood pressure (DBP), duration of hospital stay, in-hospital mortality, and disability at 3 months.

Results: The median ages of both the treatment and the control groups were 36 (IQR 25-49) years and 43 (66.2%) were males. The demographic and clinical parameters were comparable. Prazosin resulted in significantly earlier normalization of SO compared to the control group (median 15 vs. 20 days; p = .01). The mean fluctuations in the SBP and DBP at 15 days were significantly lower in the prazosin group. However, the duration of hospital stay and good recovery at 3 months were comparable. Three patients developed hypotension, while two patients died (ventilator-associated pneumonia) in the prazosin group.

Discussion: This study provides new evidence supporting the role of prazosin in SO, and needs randomized trials to confirm our findings.

Introduction/aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement. We therefore evaluated orofacial muscle involvement in a sizeable cohort of FSHD participants with muscle ultrasound.

Methods: Muscle ultrasound images of the following orofacial muscles were scored visually and quantitatively: depressor anguli oris (DAO), orbicularis oris (OO), buccinator, temporalis, masseter, digastric, zygomaticus major and minor bilaterally, and the geniohyoid. Reliability analyses of both visual and quantitative evaluations were performed. Ultrasound results were correlated with other measures: the FSHD clinical score, facial weakness score, and facial function scale.

Results: We included 107 FSHD participants (male 54%; age 52 ± 14 years), of whom 92% showed signs of facial weakness. The reliability of visual ultrasound analysis varied widely (κ 0.0-1.0). Quantitative ultrasound reliability was high (intraclass correlation analysis ≥ 0.96). The DAO, buccinator, OO, temporalis, and zygomaticus minor muscles were affected most often (15%-39%). The digastric, geniohyoid, zygomaticus major, and masseter muscles were least often affected (<5%). The ultrasound compound score correlated weakly to moderately with other outcome measures used (ρ = 0.3-0.7).

Discussion: This study adds to the understanding of orofacial weakness in FSHD, confirming the involvement of the muscles of facial expression in FSHD using ultrasound. We showed that orofacial muscle ultrasound is feasible and reliable when quantitatively assessed. Future studies should evaluate orofacial muscle ultrasound longitudinally, alongside clinical and patient-reported facial weakness outcome measures, to assess their potential as outcome measures.

Introduction/aims: Hourglass-like constriction (HGC) may occur in several peripheral nerves. However, data on the prognosis of motor weakness in patients with HGC of the suprascapular nerve (SSN) are limited compared with other nerves. Here, we aimed to describe the clinical and imaging features of HGC of the SSN.

Methods: We retrospectively reviewed patients diagnosed with suprascapular neuropathy using magnetic resonance imaging (MRI) or electrodiagnostic studies over 16 years. After excluding extrinsic causes, patients with HGC of the SSN detected using MRI were included.

Results: Fourteen patients with HGC of the SSN were identified. MRI revealed that all HGCs were located between the origin of the SSN from the upper trunk of the brachial plexus and the suprascapular notch. Seven patients exhibited HGC precisely at the origin of the SSN from the brachial plexus. Four patients showed T2 hyperintensity of the SSN extending to the upper trunk of the brachial plexus or the extraforaminal cervical root. The initial treatments included observation (n = 1), steroid therapy (n = 12), suprascapular notch release (n = 1). Of the 12 patients with a sufficient follow-up period, nine fully recovered from motor weakness of the SSN with non-operative treatments. Six of the nine patients who recovered fully experienced their first clinical improvement more than 6 months after onset.

Discussion: Treatment strategies for HGC differ depending on the affected nerve. For HGC of the SSN, due to the high spontaneous recovery rate observed in our study, conservative management for at least 6 months should be initially considered.

Introduction/aims: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims of this study are to evaluate the utility of SSEPs in monitoring patients with CIDP and to assess their association with clinical outcomes following immunomodulatory therapy.

Methods: This was a single-center retrospective observational study that included patients who met European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP between 2018 and 2023. SSEPs were performed at diagnosis and during follow-up after the start of immunomodulatory treatment. Fisher's exact test was employed to assess the association between clinical improvement and SSEP improvement.

Results: Eighteen patients were included in the study. Ten patients had a typical CIDP pattern and 11 were male. In 17, SSEPs were abnormal prior to the start of immunomodulatory treatment. In patients who showed clinical improvement with immunomodulatory therapy, we observed that 15/17 had partial or complete improvement in SSEPs. Patients who showed no clinical improvement with first-line treatment exhibited worsening SSEPs. There was a significant association between clinical and SSEPs improvement (p = 0.009).

Discussion: We observed a positive association between improvement in SSEPs and clinical improvement in patients with CIDP. Our data suggest that SSEPs may be useful for monitoring the clinical course of patients with CIDP, but additional, larger studies are needed.

Introduction/aims: Phrenic neuropathy (PhN) impairs diaphragm muscle function, causing a spectrum of breathing disability. PhN etiologies and their natural history are ill-defined. This knowledge gap hinders informed prognosis and management decisions. This study aims to help fill this knowledge gap on PhN etiologies, outcomes, and recovery patterns, especially in the context of nonsurgical clinical practice.

Methods: This was a retrospective study from two interdisciplinary clinics, physiatry and neurology based. Patients were included if PhN was identified, and other causes of hemi-diaphragm muscle dysfunction excluded. Patients were followed serially at the discretion of the neuromuscular-trained neurologist or physiatrist. Recovery was assessed using pulmonary function tests (PFTs), diaphragm muscle ultrasound (US) thickening ratio, and patient-reported outcomes in patients presenting within 2 years of PhN onset.

Results: We identified 151 patients with PhN. The most common etiologies were idiopathic (27%), associated with cardiothoracic procedure (24%), and intensive care unit (17%). Of these patients, 117 (77%) were evaluated within 2 years of PhN onset. Of patients included in outcome analyses, 64% saw improvement on serial US, 50% on serial PFTs and 79% reported symptomatic improvement at an average of 15, 16, and 17 months, respectively.

Discussion: A clear majority of PhN patients show improvement in diaphragm muscle function, but on average, improvements took 15-17 months depending on the assessment type. These insights are vital for developing tailored treatments and can guide physicians in prognosis and decision-making, especially if more invasive interventions are being considered.

Introduction/aims: Nerve enlargement has been described in autoimmune nodopathy and chronic inflammatory demyelinating polyneuropathy (CIDP). However, comparisons of the distribution of enlargement between autoimmune nodopathy and CIDP have not been well characterized. To fill this gap, we explored differences in the ultrasonographic and electrophysiological features between autoimmune nodopathy and CIDP.

Methods: Between March 2015 and June 2023, patients fulfilling diagnostic criteria for CIDP were enrolled; among them, those with positive antibodies against nodal-paranodal cell-adhesion molecules were distinguished as autoimmune nodopathy. Nerve ultrasound and nerve conduction studies (NCS) were performed.

Results: Overall, 114 CIDP patients and 13 patients with autoimmune nodopathy were recruited. Cross-sectional areas (CSA) at all sites were larger in patients with CIDP and autoimmune nodopathy than in healthy controls. CSAs at the roots and trunks of the brachial plexus were significantly larger in patients with anti-neurofascin-155 (NF155), anti-contactin-1 (CNTN1), and anti-contactin-associated protein 1 (CASPR1) antibodies than in CIDP patients. The patients with anti-NF186 antibody did not have enlargement in the brachial plexus. NCS showed more frequent probable conduction block at Erb's point in autoimmune nodopathy than in CIDP (61.9% vs. 36.6% for median nerve, 52.4% vs. 39.5% for ulnar nerve). Markedly prolonged distal motor latencies were also present in autoimmune nodopathy.

Discussion: Patients with autoimmune nodopathies had distinct distributions of peripheral nerve enlargement revealed by ultrasound, as well as distinct NCS patterns, which were different from CIDP. This suggests the potential utility of nerve ultrasound and NCS to supplement clinical characteristics for distinguishing nodopathies from CIDP.

Introduction/aims: Type 1 myotonic dystrophy (DM1) is a neuromuscular disorder of multiple organ systems with important electrophysiologic (EP) manifestations, leading to a cumulative incidence of sudden death of 6.6%. Due to genetic anticipation, there is a pediatric subset of this patient population. However, most EP research on DM1 patients has been in adults, making cardiac care for pediatric patients difficult and directed by adult guidelines which often leads to cardiovascular implantable electronic device (CIED) implants. We sought to investigate the prevalence of CIEDs in the pediatric DM1 population.

Methods: The Vizient® Clinical Data Base was queried from October 2019 to October 2023 for admissions with and without ICD-10 code for myotonic dystrophy (G71.11), with and without codes for presence of a pacemaker or ICD (Z95.0, Z95.810). Patients who were identified were stratified by age: Pediatric (0-21 years) and Adult (22-50 years).

Results: Prevalence of CIED in pediatric DM1 was 2.1% and in adult DM1 was 15.8%. When comparing to pediatric and adult patients with CIED and without DM1, the odds ratio for CIED in pediatric DM1 was 48.8, compared to 23.3 for CIED in adult DM1.

Discussion: There are pediatric DM1 patients who have received CIED despite a lack of data to inform this decision-making. Further research will be important to ensure appropriate use of CIED in this population and to develop appropriate guidelines to direct management.

Introduction/aims: Accurately diagnosing Guillain-Barré syndrome (GBS) in its early stages and distinguishing it from mimics poses challenges. This study aimed to evaluate the utility of an existing electrodiagnostic criterion in very early GBS (VEGBS) for discerning mimics. Additionally, we explored specific electrophysiological abnormalities in VEGBS to design a new diagnostic criterion for more accurate VEGBS diagnosis.

Methods: We retrospectively identified all patients with flaccid quadriparesis initially suspected of GBS who underwent nerve conduction studies (NCS) ≤4 days from symptom onset. We then retrieved their NCS data and applied an existing electrodiagnostic criterion for sensitivity and specificity analyses based on the final discharge diagnosis. Furthermore, we designed a new criterion based on the observed electrophysiological abnormalities that have maximum specificity and at least 50% sensitivity.

Results: Among 70 patients suspected of VEGBS, 44 (63%) received a final diagnosis of GBS, while in 26 (37%), the GBS diagnosis was later refuted. Umapathi's definite criterion exhibited a sensitivity of 61.36% and a specificity of 92.31%. The probable and possible groups showed very high sensitivity (90.91% and 100%, respectively); however, specificity was low (57.69% and 30.77%, respectively) in the very early stage. Our proposed criterion demonstrated a sensitivity of 88.64% (CI: 75.44%-96.21%) and a specificity of 96.15% (CI: 80.36%-99.90%).

Discussion: The criterion based on presumed electrophysiological correlates of specific early GBS pathophysiology proved more effective than the existing electrodiagnostic criterion in differentiating VEGBS from mimics.

Introduction/aims: Multidisciplinary care for patients with amyotrophic lateral sclerosis (ALS) is recommended in international guidelines, but reaches its limits when immobility increases. This pilot project addresses this gap by delivering home-based, specialized, multiprofessional support to ALS patients who are not able to attend outpatient care. The study assessed the feasibility of this model of care and the satisfaction of both patients and caregivers.

Methods: This was a longitudinal cohort study of patients with ALS and their caregivers in the surroundings of Munich, Germany. Patients were regularly visited at home by a multiprofessional team (neurologists/palliative care physicians, nurse, social worker, chaplain).

Results: A total of 94 patients with ALS were included in the homecare project and 88 patients and 74 caregivers were enrolled in the accompanying study. The mean care duration was 221 days, enabling 61% of the 49 deceased patients to die at home. Notably, 20% of patients chose a way to hasten death. Patient satisfaction (ICECAP Supportive Care Measure [SCM]: 23.7/28, CollaboRATE: 10.6/12) and caregiver perception of the end-of-life phase (Caregiver Evaluation of the Quality of End-Of-Life Care [CEQUEL]: 24.9/26) were high.

Discussion: This pilot project successfully implemented specialized, home-based multidisciplinary care for ALS patients and caregivers, demonstrating both feasibility and high satisfaction. The program enabled a large proportion of patients to remain in their homes, reducing the need for hospital care. The multiprofessional approach, including neuropalliative, psychosocial and spiritual support provided comprehensive care that addressed needs of patients and caregivers. Further research is warranted to explore cost-effectiveness.