Can MR neurography of the common peroneal nerve predict a residual motor deficit in patients with foot drop?

OBJECTIVE: To determine if MR neurography of the common peroneal nerve (CPN) predicts a residual motor deficit at 12-month clinical follow-up in patients presenting with foot drop. MATERIALS AND METHODS: A retrospective search for MR neurography cases evaluating the CPN at the knee was performed. Patients were included if they had electrodiagnostic testing (EDX) within 3 months of imaging, ankle and/or forefoot dorsiflexion weakness at presentation, and at least 12-month follow-up. Two radiologists individually evaluated nerve size (enlarged/normal), nerve signal (T2 hyperintense/normal), muscle signal (T2 hyperintense/normal), muscle bulk (normal/Goutallier 1/Goutallier > 1), and nerve and muscle enhancement. Discrepancies were resolved via consensus review. Multivariable logistical regression was used to evaluate for association between each imaging finding and a residual motor deficit at 12-month follow-up. RESULTS: Twenty-three 3 T MRIs in 22 patients (1 bilateral, mean age 52 years, 16 male) met inclusion criteria. Eighteen cases demonstrated common peroneal neuropathy on EDX, and median duration of symptoms was 5 months. Six cases demonstrated a residual motor deficit at 12-month follow-up. Fourteen cases underwent CPN decompression (1 bilateral) within 1 year of presentation. Three cases demonstrated Goutallier > 1 anterior compartment muscle bulk. Multivariable logistical regression did not show a statistically significant association between any of the imaging findings and a residual motor deficit at 12-month follow-up. CONCLUSION: MR neurography did not predict a residual motor deficit at 12-month follow-up in patients presenting with foot drop, though few patients demonstrated muscle atrophy in this study.

Neuromuscular Ultrasound in Intensive Care Unit-Acquired Weakness: Current State and Future Directions.

Intensive care unit-acquired weakness (ICUAW) is one of the most common causes of muscle atrophy and functional disability in critically ill intensive care patients. Clinical examination, manual muscle strength testing and monitoring are frequently hampered by sedation, delirium and cognitive impairment. Many different attempts have been made to evaluate alternative compliance-independent methods, such as muscle biopsies, nerve conduction studies, electromyography and serum biomarkers. However, they are invasive, time-consuming and often require special expertise to perform, making them vastly impractical for daily intensive care medicine. Ultrasound is a broadly accepted, non-invasive, bedside-accessible diagnostic tool and well established in various clinical applications. Hereby, neuromuscular ultrasound (NMUS), in particular, has been proven to be of significant diagnostic value in many different neuromuscular diseases. In ICUAW, NMUS has been shown to detect and monitor alterations of muscles and nerves, and might help to predict patient outcome. This narrative review is focused on the recent scientific literature investigating NMUS in ICUAW and highlights the current state and future opportunities of this promising diagnostic tool.

MRI monitoring of macaque monkeys in neuroscience: Case studies, resource and normative data comparisons.

Information from Magnetic Resonance Imaging (MRI) is useful for diagnosis and treatment management of human neurological patients. MRI monitoring might also prove useful for non-human animals involved in neuroscience research provided that MRI is available and feasible and that there are no MRI contra-indications precluding scanning. However, MRI monitoring is not established in macaques and a resource is urgently needed that could grow with scientific community contributions. Here we show the utility and potential benefits of MRI-based monitoring in a few diverse cases with macaque monkeys. We also establish a PRIMatE MRI Monitoring (PRIME-MRM) resource within the PRIMatE Data Exchange (PRIME-DE) and quantitatively compare the cases to normative information drawn from MRI data from typical macaques in PRIME-DE. In the cases, the monkeys presented with no or mild/moderate clinical signs, were well otherwise and MRI scanning did not present a significant increase in welfare impact. Therefore, they were identified as suitable candidates for clinical investigation, MRI-based monitoring and treatment. For each case, we show MRI quantification of internal controls in relation to treatment steps and comparisons with normative data in typical monkeys drawn from PRIME-DE. We found that MRI assists in precise and early diagnosis of cerebral events and can be useful for visualising, treating and quantifying treatment response. The scientific community could now grow the PRIME-MRM resource with other cases and larger samples to further assess and increase the evidence base on the benefits of MRI monitoring of primates, complementing the animals' clinical monitoring and treatment regime.

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two-thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late-onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone-based or antisense oligonucleotide strategies for this particular type of myopathy.

Assisted mechanical ventilation promotes recovery of diaphragmatic thickness in critically ill patients: a prospective observational study.

BACKGROUND: Diaphragm atrophy and dysfunction are consequences of mechanical ventilation and are determinants of clinical outcomes. We hypothesize that partial preservation of diaphragm function, such as during assisted modes of ventilation, will restore diaphragm thickness. We also aim to correlate the changes in diaphragm thickness and function to outcomes and clinical factors. METHODS: This is a prospective, multicentre, observational study. Patients mechanically ventilated for more than 48 h in controlled mode and eventually switched to assisted ventilation were enrolled. Diaphragm ultrasound and clinical data collection were performed every 48 h until discharge or death. A threshold of 10% was used to define thinning during controlled and recovery of thickness during assisted ventilation. Patients were also classified based on the level of diaphragm activity during assisted ventilation. We evaluated the association between changes in diaphragm thickness and activity and clinical outcomes and data, such as ventilation parameters. RESULTS: Sixty-two patients ventilated in controlled mode and then switched to the assisted mode of ventilation were enrolled. Diaphragm thickness significantly decreased during controlled ventilation (1.84 ± 0.44 to 1.49 ± 0.37 mm, p < 0.001) and was partially restored during assisted ventilation (1.49 ± 0.37 to 1.75 ± 0.43 mm, p < 0.001). A diaphragm thinning of more than 10% was associated with longer duration of controlled ventilation (10 [5, 15] versus 5 [4, 8.5] days, p = 0.004) and higher PEEP levels (12.6 ± 4 versus 10.4 ± 4 cmH2O, p = 0.034). An increase in diaphragm thickness of more than 10% during assisted ventilation was not associated with any clinical outcome but with lower respiratory rate (16.7 ± 3.2 versus 19.2 ± 4 bpm, p = 0.019) and Rapid Shallow Breathing Index (37 ± 11 versus 44 ± 13, p = 0.029) and with higher Pressure Muscle Index (2 [0.5, 3] versus 0.4 [0, 1.9], p = 0.024). Change in diaphragm thickness was not related to diaphragm function expressed as diaphragm thickening fraction. CONCLUSION: Mode of ventilation affects diaphragm thickness, and preservation of diaphragmatic contraction, as during assisted modes, can partially reverse the muscle atrophy process. Avoiding a strenuous inspiratory work, as measured by Rapid Shallow Breathing Index and Pressure Muscle Index, may help diaphragm thickness restoration.

Is there cervical spine muscle weakness in patients with Hirayama disease? A morphological study about cross-sectional areas of muscles on MRI.

PURPOSE: Patients with Hirayama disease (HD) present with a larger range of neck flexion and show signs of cervical spine instability. Cervical spine stability largely relies on cervical spine muscles. The purpose of this study was to compare the cross-sectional areas (CSAs) of cervical spine muscles between patients with HD and healthy controls, providing some insights into whether there is cervical spine muscle weakness and incongruence in HD patients. METHODS: In this retrospective study, cervical spine muscles CSAs of 44 HD patients, as well as that of 44 age- and sex-matched healthy counterparts, were measured on the T2-weighted axial MR images. The ratios of cervical spine muscles CSA to the corresponding vertebral body areas, defined as R-CSAs, and the flexor/extensor CSA ratios were computed and compared between two groups. RESULTS: Compared with healthy counterparts, R-CSAs of total cervical spine muscles, total extensors, superficial extensors, and deep flexors were significantly lower in HD patients. HD patients also demonstrated a significantly greater superficial flexor/superficial extensor CSA ratio than the healthy counterparts, indicating a mismatch between superficial flexors CSA and superficial extensors CSA in HD patients. CONCLUSIONS: In this pioneering study, HD patients had decreased size in most cervical spine muscles and a mismatch between CSAs of superficial flexor and that of superficial extensors. These results indicate generalized weakness and incongruence of cervical spine muscles, which may predispose cervical spine of HD patients to a less stable situation. These slides can be retrieved under Electronic Supplementary Material.

Impact of Spinopelvic sagittal alignment on the surgical outcomes of dropped head syndrome: a multi-center study.

BACKGROUND: Most of the previous studies about the surgical treatment of dropped head syndrome (DHS) are small case series, and their primary outcome measures were cervical alignment parameters. Therefore, little is known about the associations between pre- and postoperative global sagittal alignment in the whole spine and the clinical outcomes of the surgical treatment of DHS. In this study, we investigated the surgical outcomes of DHS, including correction of cervical and global spinal sagittal alignment. METHODS: This study was a retrospective observational study. Fifteen patients with DHS who had undergone correction surgery were enrolled. Surgical outcomes, including complications and implant failures, were investigated. We assessed cervical alignment parameters as well as spinopelvic global alignment parameters, including pelvic incidence (PI), lumbar lordosis (LL), and C7-sacral sagittal vertical axis (SVA). We examined the changes in these parameters using pre- and posoperative whole spine lateral radiographs. The parameters were compared between the failure and nonfailure groups. RESULTS: Recurrence of sagittal imbalance and horizontal gaze difficulty was observed in 6 cases (40%). In all, 3 cases (20%) exhibited a distal junctional failure and required multiple surgeries with extension of fusion. Of all the radiographic parameters compared between the failure and nonfailure groups, significant differences were only observed in pre and postoperative SVA and PI-LL. CONCLUSIONS: Our results suggest that the global sagittal alignment parameters, including PI-LL and SVA, were different between the patients with failure and non failure, and these parameters might have notable impacts on surgical outcomes. Surgeons should consider PI-LL and SVA while determining the surgical course for patients with DHS.

Clinical Application of Ultrasound in Intensive Care Unit-Acquired Weakness.

Intensive care unit-acquired weakness (ICUAW) is common and prolongs the duration of mechanical ventilation and ICU length of stay and is also a leading cause of physical restriction up to five years later. Developing diagnostic tools that allow early identification and risk stratification in all critically ill patients is vital. Ultrasound is a cheap, reproducible and noninvasive imaging modality that can be used to assess multiple muscle groups. It has advantages over other imaging techniques that entail risks of radiation as well as the logistical concerns of moving critically ill patients. Ultrasound muscle indices can be monitored over time and may serve as predictors for ventilatory weaning and long-term outcomes. The diaphragm is frequently perturbed during critical illness, specifically when mechanical ventilation is initiated. Diaphragm thickness and excursion have been shown to support extubation strategy with the former serving as a marker of inspiratory effort in the absence of more specialist tests. The techniques are reproducible with appropriate training and practice and have been applied in clinical trials. Peripheral skeletal muscle ultrasound has been the subject of intense research in ICU-acquired muscle weakness. The technique has also been found to be reproducible and can serve as a surrogate marker to current volitional and non-volitional tests in the assessment of muscle ICUAW. This article outlines the application of musculoskeletal ultrasound and its role in the early recognition of ICUAW in three distinct muscle groups: (1) diaphragm (2) rectus femoris and introduces the potential of (3) parasternal muscles.

Elderly woman with subacute lower limb weakness and rapid systemic decline.

A 74-year-old woman developed bilateral leg weakness, with fluctuating cognitive and systemic symptoms that progressed despite treatment. Her diagnosis was confirmed at autopsy. Her case was discussed at the Edinburgh Clinical Neurology Course 2019 Clinicopathological Conference.

Muscle stiffness in rheumatoid arthritis is not altered or associated with muscle weakness: A shear wave elastography study.

Objectives: To investigate muscle stiffness and strength in rheumatoid arthritis patients compared to healthy controls.Methods: A sample of 80 RA patients from three discrete groups: 1 - newly diagnosed treatment-naïve RA (n = 29), 2 - active RA for at least 1 year (n = 18) and 3 - in remission RA for at least 1 year (n = 33), was compared to 40 healthy controls. Shear wave velocity (SWV) was measured using shear wave elastography as a surrogate for tissue stiffness in multiple muscles. All participants performed isometric grip strength, timed get-up-and-go test, 30-s chair stand test and isokinetic knee extension/flexion (60°/s). The difference in SWV amongst the groups was tested using one-way ANOVA, and the correlation between SWV and muscle strength results were calculated using Pearson's coefficients.Results: The mean age ± SD was 61.2 ± 12.8 for RA patients and 61.5 ± 10.5 years for controls. SWV was not significantly different amongst the groups on all muscles (p > .05). In comparison to controls, the new and active RA groups showed a significantly lower isokinetic strength by -29% (p = .013) and -28% (p = .040), fewer chair stands by -28% (p = .001) and -44% (p < .001), longer walking times by -25% (p = .025) and -30% (p = .001), respectively, and weaker grip strength by -45% for both (p < .001). The muscle strength in the remission RA groups was not significantly lower, except in the isokinetic knee strength (-21%; p = .027). The correlations between SWE and the muscle assessment results were weak and insignificant (r < 0.30; p > .05).Conclusion: Significant muscle weakness was demonstrated in patients with RA disease. However, muscle stiffness was normal and not associated with muscle strength.

[Ultrasonographic assessment of diaphragm function in long-term mechanical ventilation patients].

Objective: To evaluate the condition of the diaphragm in patients with long-term mechanical ventilation using ultrasound technology and to analyze its relationship with ventilation time and muscle atrophy in order to clarify the reasons for diaphragm dysfunction in long-term mechanical ventilation patients. Methods: Patients admitted to the respiratory department at the Chinese PLA General Hospital between June 2018 and April 2019 with mechanical ventilation were included in this study. The enrolled patients were divided into a short-term mechanical ventilation group (7 days ≤ ventilation time<1 month) and a long-term mechanical ventilation group (mechanical ventilation time ≥ 1 month). The diaphragmatic excursion, inspiratory time, contraction rate, E-T index, diaphragm thickness, diaphragm thickness fraction (DTF), and tibialis anterior thickness were compared between the two groups. The correlation between ventilation time and diaphragm thickness was analyzed in all patients. Results: The mean diaphragm thickness and DTF were significantly lower in the long-term mechanical ventilation group than in the short-term mechanical ventilation group [(0.13±0.036) vs (0.17±0.05) cm and (0.22±0.045) vs (0.27±0.075)](all P<0.05). However, there was no significant difference in diaphragmatic excursion, inspiratory time, contraction rate, E-T index or tibialis anterior thickness between the two groups (all P>0.05). There was a significant linear correlation between ventilation time and diaphragm thickness (P<0.01). Tibialis anterior thickness was not significantly correlated with ventilation time (P>0.05). Conclusion: Diaphragm thickness and function were significantly reduced in patients with long-term mechanical ventilation, which was correlated with the duration of ventilation. Nutritional status was not the main factor affecting diaphragm thickness.

Angiotensin 1-7 alleviates aging-associated muscle weakness and bone loss, but is not associated with accelerated aging in ACE2-knockout mice.

The angiotensin-converting enzyme 2 (ACE2)-angiotensin 1-7 (A1-7)-A1-7 receptor (Mas) axis plays a protective role in the renin-angiotensin system (RAS). We recently found that ACE2 knockout (ACE2KO) mice exhibit earlier aging-associated muscle weakness, and that A1-7 alleviates muscle weakness in aging mice. In the present study, we investigated the role of the A1-7-Mas pathway in the effect of ACE2 on physiological aging. Male wild-type, ACE2KO, and Mas knockout (MasKO) mice were subjected to periodical grip strength measurement, followed by administration of A1-7 or vehicle for 4 weeks at 24 months of age. ACE2KO mice exhibited decreased grip strength after 6 months of age, while grip strength of MasKO mice was similar to that of wild-type mice. A1-7 improved grip strength in ACE2KO and wild-type mice, but not in MasKO mice. Muscle fibre size was smaller in ACE2KO mice than that in wild-type and MasKO mice, and increased with A1-7 in ACE2KO and WT mice, but not in MasKO mice. Centrally nucleated fibres (CNFs) and expression of the senescence-associated gene p16INK4a in skeletal muscles were enhanced only in ACE2KO mice and were not altered by A1-7. ACE2KO mice, but not MasKO mice, exhibited thinning of peripheral fat along with increased adipose expression of p16INK4a A1-7 significantly increased bone volume in wild-type and ACE2KO mice, but not in MasKO mice. Our findings suggest that the impact of ACE2 on physiological aging does not depend on the endogenous production of A1-7 by ACE2, while overactivation of the A1-7-Mas pathway could alleviate sarcopenia and osteoporosis in aged mice.

Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease.

INTRODUCTION: Biomarkers of disease severity in Charcot-Marie-Tooth disease (CMT) are required to evaluate early responses to treatment. In this study we used magnetic resonance imaging (MRI) to evaluate the relationship between muscle volume and intramuscular fat accumulation with weakness, disability, and impaired gait in affected children and adolescents. METHODS: Fifty-five participants underwent MRI of the anterior compartment of the lower leg. Muscle and fat volumes were calculated. Strength was measured using hand-held dynamometry, disability using the CMT Pediatric Scale, and 3-dimensional gait analysis using an 8-camera Vicon Nexus motion capture system. RESULTS: Lower muscle volume was significantly associated with reduced dorsiflexion strength, increased disability, impaired gait profile score, and foot drop. Intramuscular fat accumulation was associated with reduced dorsiflexion strength and impaired gait profile score. DISCUSSION: The MRI protocol described was feasible, reliable, and sensitive to the magnitude of weakness, disability, and walking difficulties in children with CMT. Muscle Nerve 59:213-217, 2019.

Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A.

Diaphragm weakness in Charcot-Marie-Tooth disease 1A (CMT1A) is usually associated with severe disease manifestation. This study comprehensively investigated phrenic nerve conductivity, inspiratory and expiratory muscle function in ambulatory CMT1A patients. Nineteen adults with CMT1A (13 females, 47 ± 12 years) underwent spiromanometry, diaphragm ultrasound, and magnetic stimulation of the phrenic nerves and the lower thoracic nerve roots, with recording of diaphragm compound muscle action potentials (dCMAP, n = 15), transdiaphragmatic and gastric pressures (twPdi and twPgas, n = 12). Diaphragm motor evoked potentials (dMEP, n = 15) were recorded following cortical magnetic stimulation. Patients had not been selected for respiratory complaints. Disease severity was assessed using the CMT Neuropathy Scale version 2 (CMT-NSv2). Healthy control subjects were matched for age, sex, and body mass index. The following parameters were significantly lower in CMT1A patients than in controls (all P < .05): forced vital capacity (91 ± 16 vs 110 ± 15% predicted), maximum inspiratory pressure (68 ± 22 vs 88 ± 29 cmH2 O), maximum expiratory pressure (91 ± 23 vs 123 ± 24 cmH2 O), and peak cough flow (377 ± 135 vs 492 ± 130 L/min). In CMT1A patients, dMEP and dCMAP were delayed. Patients vs controls showed lower diaphragm excursion (5 ± 2 vs 8 ± 2 cm), diaphragm thickening ratio (DTR, 1.9 [1.6-2.2] vs 2.5 [2.1-3.1]), and twPdi (8 ± 6 vs 19 ± 7 cmH2 O; all P < .05). DTR inversely correlated with the CMT-NSv2 score (r = -.59, P = .02). There was no group difference in twPgas following abdominal muscle stimulation. Ambulatory CMT1A patients may show phrenic nerve involvement and reduced respiratory muscle strength. Respiratory muscle weakness can be attributed to diaphragm dysfunction alone. It relates to neurological impairment and likely reflects a disease continuum.

Muscular Ultrasound, Syndecan-1 and Procalcitonin Serum Levels to Assess Intensive Care Unit-Acquired Weakness.

BACKGROUND: Intensive care unit-acquired weakness (ICU-AW) is associated with poorer outcome of critically ill patients. Microcirculatory changes and altered vascular permeability of skeletal muscles might contribute to the pathogenesis of ICU-AW. Muscular ultrasound (MUS) displays increased muscle echogenicity, although its pathogenesis is uncertain. OBJECTIVE: We investigated the combined measurement of serum and ultrasound markers to assess ICU-AW and clinical patient outcome. METHODS: Fifteen patients and five healthy controls were longitudinally assessed for signs of ICU-AW at study days 3 and 10 using a muscle strength sum score. The definition of ICU-AW was based on decreased muscle strength assessed by the muscular research council-sum score. Ultrasound echogenicity of extremity muscles was assessed using a standardized protocol. Serum markers of inflammation and endothelial damage were measured. The 3-month outcome was assessed on the modified Rankin scale. RESULTS: ICU-AW was present in eight patients, and seven patients and the control subjects did not develop ICU-AW. The global muscle echogenicity score (GME) differed significantly between controls and patients (mean GME, 1.1 ± 0.06 vs. 2.3 ± 0.41; p = 0.001). Mean GME values significantly decreased in patients without ICU-AW from assessment 1 (2.30 ± 0.48) to assessment 2 (2.06 ± 0.45; p = 0.027), which was not observed in patients with ICU-AW. Serum levels of syndecan-1 at day 3 significantly correlated with higher GME values at day 10 (r = 0.63, p = 0.012). Furthermore, the patients' GME significantly correlated with mRS at day 100 (r = 0.67, p = 0.013). CONCLUSION: The combined use of muscular ultrasound and inflammatory biomarkers might be helpful to diagnose ICU-AW and to predict long-term outcome in critical illness.

Body composition analysis in patients with myotonic dystrophy types 1 and 2.

INTRODUCTION: To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with socio-demographic and clinical features of the diseases. METHODS: There were no statistical differences in sociodemographic features between 20 DM1 patients and 12 DM2 patients. Body composition was assessed by DEXA (dual-energy x-ray absorptiometry). A three-compartment model was used: bone mineral content (BMC), fat mass (FM), and lean tissue mass (LTM). RESULTS: Patients with DM1 and DM2 had similar total body mass (TBM), BMC, FM, and LTM. Patients with DM1 had higher trunk-limb fat index (TLFI) in comparison to DM2 patients which indicates visceral fat deposition in DM1 (1.16 ± 0.32 for DM1 vs. 0.87 ± 0.23 for DM2, p < 0.05). Right ribs bone mineral density was lower in DM2 group (0.68 ± 0.07 g/cm2 vs. 0.61 ± 0.09 g/cm2, p < 0.05). Higher percentage of FM in legs showed correlation with lower strength of the upper leg muscles in DM1 (ρ = - 0.47, p < 0.05). Higher muscle strength in DM2 patients was in correlation with higher bone mineral density (ρ = + 0.62, p < 0.05 for upper arm muscles, ρ = + 0.87, p < 0.01 for lower arm muscles, ρ = + 0.72, p < 0.05 for lower leg muscles). CONCLUSION: DM1 patients had visceral obesity, and percentage of FM correlated with a degree of muscle weakness in upper legs. In DM2 patients, degree of muscle weakness was in correlation with higher FM index and lower bone mineral density.

Can postoperative deltoid weakness after cervical laminoplasty be prevented by using intraoperative neurophysiological monitoring?

Laminoplasty, frequently performed in patients with cervical myelopathy, is safe and provides relatively good results. However, motor palsy of the upper extremities, which occurs after decompression surgery for cervical myelopathy, often reduces muscle strength of the deltoid muscle, mainly in the C5 myotome. The aim of this study was to investigate prospectively whether postoperative deltoid weakness (DW) can be predicted by performing intraoperative neurophysiological monitoring (IONM) during cervical laminoplasty and to clarify whether it is possible to prevent palsy using IONM. We evaluated the 278 consecutive patients (175 males and 103 females) who underwent French-door cervical laminoplasty for cervical myelopathy under IONM between November 2008 and December 2016 at our hospital. IONM was performed using muscle evoked potential after electrical stimulation to the brain [Br(E)-MsEP] from the deltoid muscle. Seven patients (2.5%) developed DW after surgery (2 with acute and 5 with delayed onset). In all patients, deltoid muscle strength recovered to ≥ 4 on manual muscle testing 3-6 months after surgery. Persistent IONM alerts occurred in 2 patients with acute-onset DW. To predict the acute onset of DW, Br(E)-MsEP alerts in the deltoid muscle had both a sensitivity and specificity of 100%. The PPV of persistent Br(E)-MsEP alerts had both a sensitivity and specificity of 100% for acute-onset DW. There was no change in Br(E)-MsEP in patients with delayed-onset palsy. The incidence of deltoid palsy was relatively low. Persistent Br(E)-MsEP alerts of the deltoid muscle had a 100% sensitivity and specificity for predicting a postoperative acute deficit. IONM was unable to predict delayed-onset DW. In only 1 patient were we able to prevent postoperative DW by performing a foraminotomy.

Acute Proximal Myopathy in a Young Male-A Case of Infectious Myositis.

Background and objectives: Acute proximal muscle weakness has a broad differential. Infectious myositis is difficult to differentiate clinically from inflammatory myopathy, often causing a delayed diagnosis. Infectious myositis should be thought of as a differential for proximal muscle pain and weakness in the right context. Case Presentation: A 40-year-old male with diabetes presented with exquisite pain and weakness of proximal extremities. He denied trauma, recent travel, new medications, or substance use. He denied prior rheumatologic, thyroid, or musculoskeletal disorders. The urine culture revealed staphylococcal infection with negative blood cultures. Rheumatologic and endocrine workups were negative. Random muscle biopsy was negative for inflammatory infiltrate. MRI of thighs and arms showed innumerable foci of nodular and ring enhancement in the proximal muscle groups. The patient noted improvement after about 10 days of antibiotics with complete resolution at 2 months. Discussion and Conclusion: Bacterial myositis is most often due to Staphylococcus aureus (70%) and affects a single muscle. Multifocal abscesses are rare and strongly suggest transient bacteremia. Our patient most likely had transient initiating staphylococcal bacteremia leading to diffuse myositis and hematogenous urinary tract infection (UTI). A delay in treatment can be life-threatening.

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

We present 3 children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T (p.Arg697*). A 2-year-old boy had profound developmental delay, weakness and hypotonia, recurrent chest infections and respiratory distress, undescended testes, rotatory nystagmus, hyporeflexia, and a homozygous nonsense variant c.427C>T (p.Arg143*). An 11-year-old girl with profound developmental delay, weakness and hypotonia, stereotypic movements, growth failure, hyporeflexia, and a homozygous frameshift variant c.87_88delAG (p.Gly30Cysfs*4). In addition, these children shared common facial features (thick eyebrows, hypertelorism, broad nasal bridge, short nose with upturned nasal tip and broad low-hanging columella, thick lips, low-set ears, and coarse facies with excessive facial hair), and brain abnormalities (cerebellar vermis hypoplasia, ventricular dilatation, and reduced white matter volume). Although PPP1R21 has not yet been linked to human disease, the consistency in the phenotype of individuals from unrelated families, the nature of the variants which result in truncated proteins, and the expected vital role for PPP1R21 in cellular function, all support that PPP1R21 is a novel disease-associated gene responsible for the phenotype observed in these individuals.