Articles published on Nerve root compression
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- Research Article
- 10.1016/j.jmir.2025.102131
- Jan 1, 2026
- Journal of medical imaging and radiation sciences
- Oliver Amadi + 3 more
Does a new MRI on-call service improve the timely imaging for suspected cauda equina syndrome?
- New
- Research Article
- 10.1177/10538127251371635
- Jan 1, 2026
- Journal of back and musculoskeletal rehabilitation
- Hamad S Al Amer + 2 more
PurposeThis study aimed to investigate the effects of different sitting postures and prolonged sitting on lumbosacral nerve root function by measuring the amplitude of the soleus (SOL) Hoffmann reflex (H-reflex).MethodsThis study included 30 healthy individuals who were selected through convenience sampling and divided according to daily sitting duration over the past year into a prolonged sitting group (≥6 h/day) and a control group (≤4 h/day). The SOL H-reflex amplitude was recorded in erect, slumped, slouched, and supine positions. Ischial pressure was evaluated in all sitting postures to assess spinal loading.ResultsSlouched sitting significantly lowered ischial pressure (p < 0.0005) and produced higher H-reflex amplitudes (p < 0.0005), which were not significantly different from those in the supine position (p = 0.362). In contrast, (p < 0.0005) erect and slumped (p < 0.0005) postures showed increased ischial pressure and significantly reduced H-reflex amplitudes (p < 0.0005 for both postures). Participants in the prolonged sitting group demonstrated significantly lower SOL H-reflex amplitudes than those in the control group (p = 0.008, ηp² = 0.23).ConclusionVarious sitting postures and durations exert different effects on the lumbosacral spine and nerve roots. Slouched sitting reduces spinal stress and lower nerve root compression compared to erect and slumped seated positions. Extended sitting duration may partially compress the lumbosacral nerve root, thereby potentially contributing to postural low back pain over time.
- Research Article
- 10.52338/tjoa.2025.5276
- Dec 19, 2025
- The Journal of Anatomy
- Claudia Alejandra Martinez Rodriguez Md + 2 more
Background: Lumbar disc herniation (LDH) is a common cause of low back pain (LBP) and disability in adults, often requiring advanced imaging for diagnosis. Although magnetic resonance imaging (MRI) is the gold standard for assessing intervertebral disc pathology, few epidemiological studies have described its prevalence in Mexican populations. Objective: To determine the prevalence and radiological characteristics of lumbar disc herniations in adult patients with LBP undergoing MRI at General Hospital 450, Durango, Mexico, during 2024. Methods: We conducted a retrospective, observational, cross-sectional study including electronic medical records and MRI reports of adult patients with LBP. Sociodemographic variables and imaging findings were analyzed. Descriptive statistics were applied to estimate prevalence and disc involvement patterns. Results: A total of 320 patients were included (63.4% women, mean age 51.2 years). Disc herniation was identified in 32.5% of cases, most frequently as protrusions (27.5%) and less commonly as extrusions (5.0%). Single-level involvement predominated (82.7%), with L4–L5 being the most affected segment (37.7%), followed by L5–S1 (27.0%). Disc bulging was present in 57.7% of cases, and advanced degeneration (Pfirrmann grade IV) was the most frequent degenerative change (61.5%). Foraminal stenosis was reported in 38.9%, and nerve root compression in 36.5%. Overweight and obesity were documented in 72.5% of patients. Conclusion: LDH prevalence among Mexican adults with LBP was 32.5%, with disc protrusion at L4–L5 being the most common presentation. The high frequency of overweight and obesity suggests potential modifiable risk factors. These findings provide epidemiological evidence to optimize diagnostic strategies and preventive measures in similar populations. Keywords: lumbar disc herniation, low back pain, magnetic resonance imaging, prevalence, degenerative disc disease.
- Research Article
- 10.1186/s12891-025-09395-0
- Dec 12, 2025
- BMC musculoskeletal disorders
- David Kocemba + 8 more
Lumbar radiculopathy, due to nerve root compression, leads to significant pain and functional impairment. Surgical decompression is a treatment option, but not all patients achieve good outcomes. This protocol for an ongoing randomized controlled trial aims to compare the outcomes of surgical planning with a diagnostic selective nerve root block and surgical planning without a diagnostic selective nerve root block (standard of care). The PLAN trial is a multicenter, block-randomized, controlled, non-inferiority trial that will enroll patients diagnosed with unilateral lumbar radiculopathy. Participants who have been deemed surgical candidates will be randomly assigned to one of two groups: Group A will receive standard surgical decompression, while Group B will undergo selective nerve root block to determine what nerve root is causing the patient's pain, followed by surgical decompression or conservative management. The primary outcome measure is the difference in the Numerical Rating Scale for Leg Pain from baseline to 3 months with a non-inferiority margin of 1.6 points. Secondary outcomes are the difference in proportions of patients reaching ≥ 1.6 points on the Numerical Rating Scale for Leg Pain, the difference in scores and time course on Numerical Rating Score for Leg Pain and Back Pain, Short-Form 36, EuroQol-5D-3L, and Oswestry Disability Index. Analysis will also be performed after 1 year. This trial seeks to provide high-quality evidence on the effectiveness of integrating selective nerve root blocks to guide surgical decompression or avoid surgery in treating lumbar radiculopathy. The findings aim to inform clinical decision-making and optimize patient outcomes. TRIAL REGISTRATION: Clinicaltrials.gov registration NCT06143813. Registration date November 9, 2023. Last update May 2, 2024, version 1.1.
- Research Article
- 10.1097/md.0000000000046519
- Dec 12, 2025
- Medicine
- Ruiqian Guan + 3 more
Cervical spondylotic radiculopathy is the most common type of cervical spondylosis. It is a disease caused by cervical nerve root compression due to various reasons. Clinically, neck muscle stiffness, pain and other activity disorders, or accompanied by dizziness, headache and other symptoms, bring great inconvenience to patients. Clinical studies have confirmed that the use of massage-based treatment, clinical achieved satisfactory clinical results. This article will take ' massage ' as the leading combination of acupuncture, traditional Chinese medicine fumigation, traction, oral administration of traditional Chinese medicine, fire therapy, acupotomy, exercise therapy and other therapies to treat cervical spondylosis of nerve root type, so as to guide clinical practice.
- Research Article
- 10.22159/ajpcr.2025v18i12.57175
- Dec 7, 2025
- Asian Journal of Pharmaceutical and Clinical Research
- Sriram K + 2 more
Cervical radiculopathy (CR) is a common neurological disorder arising from compression or irritation of cervical nerve roots. It typically presents with neck and radiating arm pain, sensory disturbances and motor deficits, and its peak incidence occurs between 40 and 50 years of age. The natural history is often self‑limiting, yet the associated pain and functional limitations prompt many patients to seek care. Conservative treatment—including physiotherapy, manual therapy, cervical traction and exercise—is the initial management approach because it aims to relieve symptoms without surgical risks. However, the evidence base for specific physiotherapy strategies remains heterogeneous and sometimes contradictory. This review synthesises current literature on physiotherapy‑based conservative management of CR, summarises outcomes of randomised controlled trials (RCTs) and recent systematic reviews, and highlights research gaps. We searched PubMed, Cochrane Library, PEDro and Google Scholar for studies up to October 2025. Eleven studies including randomized controlled trials, observational cohorts, a case series, and one systematic review were included. Manual therapy combined with exercise consistently reduced pain and disability; mechanical traction provided no additional benefit. In acute CR, semi‑hard collars or physiotherapy led to greater reductions in arm and neck pain than a wait‑and‑see approach. Cervical vertebral mobilisation improved mechanical pain hypersensitivity and disability in chronic CR. Structured postoperative physiotherapy showed only minor benefits compared with standard postoperative care. Despite promising results, evidence quality is low to moderate, and heterogeneity among interventions limits generalisability. Future well‑designed RCTs with long‑term follow‑up are required.
- Research Article
- 10.1186/s11658-025-00831-6
- Dec 3, 2025
- Cellular & molecular biology letters
- Xinyue Liao + 9 more
Trigeminal nerve root compression induced neuroinflammatory response promotes mechanical allodynia through the CGRP/SP-Piezo2 axis via Ca2+ signaling.
- Research Article
1
- 10.1016/j.phymed.2025.157511
- Dec 1, 2025
- Phytomedicine : international journal of phytotherapy and phytopharmacology
- Jiaguo Yuan + 13 more
Brazilian Mimosa targets CXCR3 to promote M2 polarization for treating limb numbness in cervical spondylosis.
- Research Article
- 10.1007/s40122-025-00776-w
- Dec 1, 2025
- Pain and therapy
- Hidenori Suzuki + 6 more
Lumbar disc herniation (LDH) is characterized by the displacement of intervertebral disc material with compression of adjacent nerve roots, leading to nociceptive and neuropathic pain in the lower limbs and lower back. The Miro-Hers study explored the efficacy and safety of mirogabalin add-on treatment in combination with nonsteroidal anti-inflammatory drugs (NSAIDs) compared with NSAIDs alone. We hypothesized that mirogabalin added on to NSAID therapy may reduce neuropathic pain due to LDH more than NSAIDs alone. This was a multicenter, 8-week, randomized (1:1), open-label, parallel-group study conducted in Japan between March 2023 and September 2024. The study included participants with LDH diagnosed by magnetic resonance imaging who had inadequately controlled lower limb pain [numerical rating scale (NRS) score≥4] despite NSAID treatment. The primary endpoint was the change in the NRS score for lower limb pain from baseline to Week 8. The secondary endpoints included quality of life, as assessed by the EuroQol 5 dimensions 5-level score (EQ-5D-5L), and NRS score for sleep disturbance. Safety endpoints included treatment-emergent adverse events (TEAEs) and adverse drug reactions (ADRs). Of the 182 participants screened and randomized, 90 in the mirogabalin add-on group and 89 in the NSAIDs alone group were included in the efficacy analysis. The reduction in NRS score for lower limb pain from baseline to Week 8 was significantly greater in the mirogabalin add-on group than in the NSAIDs alone group, with least squares mean changes of-3.8 [95% confidence interval (CI):-4.4,-3.3] and-2.2 (-2.8,-1.7), respectively [intergroup difference-1.6 (-2.4,-0.8); P<0.001]. EQ-5D-5L and NRS score for sleep disturbance both significantly improved over the study period with mirogabalin add-on treatment compared with NSAIDs alone [intergroup difference: 0.0653 (95% CI 0.0235, 0.1071); P=0.002 and-1.3 (-1.9,-0.7); P<0.001, respectively]. No severe or serious TEAEs were observed. In the mirogabalin add-on group, ADRs were observed in 48.9% of participants, with somnolence (31.1%) and dizziness (18.9%) being the most common. The addition of mirogabalin to NSAIDs treatment significantly improved pain, quality of life, and sleep disturbance in patients with LDH, with no previously undocumented safety concerns identified. Japan Registry of Clinical Trials (jRCTs061220102, registered 27/February/2023, https://jrct.mhlw.go.jp/en-latest-detail/jRCTs061220102 ).
- Research Article
- 10.1101/2025.11.24.690061
- Nov 26, 2025
- bioRxiv : the preprint server for biology
- Mostafa W Abdulrahim + 14 more
Trigeminal neuralgia (TN) is a debilitating orofacial pain condition that adversely affects quality of life. Although heterogeneous, the most common form of TN is classical TN, characterized by paroxysmal bouts of pain in response to otherwise innocuous stimuli. It is believed that classical TN results from neurovascular compression of the trigeminal nerve. However, the underlying pathophysiology of TN is not well understood, thus limiting the development of targeted therapies. Current animal models lack translational relevance, particularly in their inability to replicate intradural nerve root compression, a core anatomic component of TN. We developed a TN mouse model that achieves intradural nerve root compression via a retro-orbital approach confirmed by anatomic dissection and magnetic resonance imaging. To assess behavioral outcomes, we measured orofacial pain through facial wiping and interaction with a reward stimulus. Pharmacological responsiveness was tested using carbamazepine administration. Mechanistic studies included calcium imaging of trigeminal ganglia (TG), electrophysiologic recordings to measure resting membrane potential and rheobase, and immunohistochemical analysis of the TG. The model elicited orofacial neuropathic pain, substantiated by increased facial wiping and reduced interaction with a reward stimulus, behaviors that suggest both spontaneous and evoked pain. Carbamazepine attenuated these behaviors, suggesting pharmacologic relevance to current TN treatment. Calcium imaging showed heightened spontaneous activity in the TG, and electrophysiologic recordings revealed an increased resting membrane potential and a reduced rheobase. Finally, immunohistochemical studies showed infiltration of CD45+ cells, demyelination and an increase in CGRP expression in the TG, supporting the presence of neuroinflammation after nerve root compression. These findings show that our approach replicates the anatomy and clinical presentation of classical TN in humans. This model may represent a new and robust platform for future mechanistic studies of TN and subsequent preclinical evaluation of therapies in mice.
- Research Article
- 10.12200/j.issn.1003-0034.20240715
- Nov 25, 2025
- Zhongguo gu shang = China journal of orthopaedics and traumatology
- Feng Yao + 3 more
The minimally invasive decompression technique represents a novel approach for the treatment of lumbar spinal stenosis(LSS). This method minimizes peripheral tissue damage, decreases the incidence of postoperative complications, optimizes the alleviation of nerve root compression, and expedites patient recovery. Therefore, there are various opinions on the minimally invasive decompression surgery technique for the spine both domestically and internationally today. To enable patients to select an appropriate surgical plan with optimal therapeutic outcomes, this article offers a comprehensive analysis of the advantages, disadvantages, and indications of prevalent minimally invasive spinal decompression techniques for the treatment of lumbar spinal stenosis. Additionally, it presents a comparative evaluation of the therapeutic effects associated with various minimally invasive techniques. This analysis aims to furnish a robust theoretical foundation for the clinical application of diverse minimally invasive decompression techniques in managing lumbar spinal stenosis and related conditions.
- Research Article
- 10.1136/emermed-2024-214775
- Nov 21, 2025
- Emergency medicine journal : EMJ
- Steven Crane + 2 more
Cauda equina syndrome (CES) is a neurosurgical emergency, and suspected cases require urgent magnetic resonance imaging (MRI) scanning of the lumbosacral spine. This pilot study explores whether serum levels of neuron-specific enolase (NSE) can predict the degree of nerve compression seen on MRI scanning. This was a prospective, diagnostic cohort pilot study of adult patients presenting to the emergency department (ED) in York between February 2024 and July 2024 with symptoms suggestive of CES in the opinion of the treating clinician (eg, back pain, sciatica, perianal paraesthesia, bladder or bowel dysfunction, sexual dysfunction). Patients either self-presented to the ED or had been referred by local primary care doctors or physiotherapists. All patients underwent MRI scanning (or fine-slice computed tomography scan if MRI contraindicated) of the lumbosacral spine and measurement of serum NSE. Imaging was classified as positive if the radiological report described cauda equina compression, nerve root compression or impingement and negative if none of these were described. We compared the serum levels of NSE in patients with positive imaging with those in patients with negative scans. 98 patients were included. 97 patients had urgent MRI of the lumbosacral spine and 1 patient had fine-slice CT. 52 patients had imaging classified as positive, and 46 patients had scans classified as negative. Patients with positive scans had a mean serum NSE level of 7.16 µg/L (SD 2.54) and those with negative imaging had a mean serum NSE level of 6.82 µg/L (SD 2.91). NSE did not demonstrate any ability to discriminate between patients with positive and negative imaging with an area under the receiver operating characteristic curve of 0.542. The study shows that serum NSE is not a useful biomarker in the management of patients presenting to an ED with symptoms of CES.
- Research Article
- 10.1097/bsd.0000000000001998
- Nov 20, 2025
- Clinical spine surgery
- Marcus V B Marques + 5 more
Case report. To describe a rare case of lumbosciatalgia caused by a synovial facet joint cyst undetected on preoperative MRI, successfully diagnosed and treated with a minimally invasive endoscopic approach. Low back pain with sciatica (lumbosciatalgia) is a common and disabling condition. Facet joint cysts are uncommon but may cause nerve root compression and radiculopathy. Magnetic resonance imaging (MRI) is the diagnostic gold standard, but dynamic or small cysts may remain undetected, complicating diagnosis, and delaying appropriate treatment. A 46-year-old male presented with chronic lumbosciatalgia unresponsive to conservative management. MRI showed lumbar spondyloarthrosis, degenerative disc disease, and ligamentum flavum thickening, but no definitive cause of neural compression. Persistent symptoms and diagnostic uncertainty prompted minimally invasive endoscopic exploration. Intraoperatively, a synovial facet cyst measuring 1.1×1.0×0.2cm was found compressing the descending L5 nerve root. The cyst was excised completely, resulting in immediate pain relief. Functional status, assessed using the Oswestry Disability Index (ODI), improved from 26% preoperatively (moderate disability) to 8% at 30 days (minimal disability), and further to 2% at 60 days, with stability maintained at 90, 150, and 180 days. No recurrence or complications were observed. This case highlights the importance of considering facet joint cysts in the differential diagnosis of lumbosciatalgia, especially when imaging is inconclusive. Minimally invasive endoscopic surgery enables both definitive diagnosis and treatment, offering minimal tissue disruption, rapid recovery, and sustained symptom resolution. Early suspicion, personalized surgical planning, and structured follow-up are key to optimizing outcomes and monitoring for recurrence.
- Research Article
- 10.3389/fsurg.2025.1676460
- Nov 17, 2025
- Frontiers in Surgery
- Zhi-Da Chen + 6 more
Introduction and aimGrade II lumbar spondylolisthesis is frequently accompanied by segmental instability, intervertebral disc degeneration, and nerve root compression. When conservative management fails, surgery is generally warranted. Therefore, we conducted a retrospective study to evaluate the clinical and radiologic outcomes of single-position OLIF combined with percutaneous posterior fixation under O-arm navigation for the treatment of Grade II lumbar spondylolisthesis.Materials and methodsA retrospective analysis was conducted on 87 patients with Grade II lumbar spondylolisthesis who underwent single-position OLIF combined with percutaneous posterior fixation under O-arm navigation. The affected segments were as follows: 17 cases at L2, 26 cases at L3, and 44 cases at L4. Data were collected on operation duration, blood loss, hospital stay, radiological and clinical outcomes (VAS, ODI, SF-36, intervertebral disc height, slippage rate, lumbar lordosis angle, cross-sectional area, and sagittal diameter), Bridwell classification, and complications.ResultsThe mean operation duration was 118.7 ± 22.4 min, with an average blood loss of 83.6 ± 27.4 ml. All patients had regular follow up with an average duration of 29.5 ± 9.2 months. The VAS scores, ODI, and SF-36 at 3 months postoperatively and final follow-up showed significant improvement compared to preoperative scores (P < 0.05). The IDH, SR, and LLA were significantly improved at 3 days, 12 months, and at the final follow-up compared to preoperative values (All P < 0.01). Mean cross-sectional area improved significantly from 87.40 ± 29.59 mm2 preoperatively to 132.42 ± 33.53 mm2 at 12 months follow-up (P < 0.001). The mean sagittal diameter at 12 months follow-up 9.23 ± 2.87 mm showed statistically significant difference compared to preoperative measurements 5.25 ± 2.67 mm. 94.3% (82/87) of patients achieving Bridwell Grade I bone fusion. A total of 348 pedicle screws were implanted with an overall accuracy rate of approximately 98.9%. Complications were minimal, with 3 cases of psoas weakness that resolved to normal muscle strength within 2 weeks.ConclusionsIt offers significant minimal invasiveness, accuracy in screw placement, and sustained reconstruction of lumbar sagittal plane, with low complication rates and high fusion success.
- Research Article
- 10.1007/s11845-025-04157-2
- Nov 10, 2025
- Irish journal of medical science
- Aine Redmond + 7 more
A 74-year-old gentleman with a background of early stage melanoma presented with subacute onset of asymmetric sensorimotor symptoms, involving all four limbs. This had progressed over the preceding three-months - he had become severely debilitated and wheelchair-bound over this time. At presentation, there was leg weakness with profound bilateral foot drop, left worse than right, and milder proximal weakness of both hip flexors. There was also very severe weakness in both hands, and patchy upper and lower limb sensory loss. Initial symptom onset was approximately two-weeks after commencing adjuvant Pembrolizumab, a humanised monoclonal anti-programmed cell death 1 (PDR-1) antibody immune checkpoint inhibitor (ICI), for metastatic melanoma. MRI spine revealed degenerative changes, with compression of bilateral L5 nerve roots. Lumbar puncture and extensive laboratory work-up were not contributory. Neurophysiology demonstrated a non-length dependent, patchy, and severe sensorimotor axonal neuropathy. This was more confluent although remained asymmetric in both lower limbs, worse on the left, with very patchy sensorimotor axonal findings in the upper limbs. There were no demyelinating features. Sural nerve biopsy was in keeping with a vasculitic aetiology. The clinical impression was of an ICI-induced mononeuritis multiplex. He showed slow clinical improvement following treatment with IV methylprednisolone, followed by concurrent monthly IVIG infusions. Although neurological adverse events are not uncommon in association with Pembrolizumab, mononeuritis multiplex is a very rarely reported phenomenon. A high index of suspicion, and prompt treatment, is required to improve patient outcomes.
- Research Article
- 10.1097/md.0000000000045859
- Nov 7, 2025
- Medicine
- Nana Guo + 8 more
Rationale:The main treatment for lumbar ligamentum flavum cyst is surgery. The purpose of surgery is to remove the cyst and relieve nerve root compression. In recent years, microscope-assisted percutaneous microchannel therapy has become a minimally invasive and effective alternative to open surgery. However, the efficacy of this surgery for lumbar ligamentum flavum cysts has not yet been determined.Patient concerns:We report a case of a 61-year-old male patient who was admitted due to lower back pain, right lower limb pain, and numbness that had persisted for 6 months. Magnetic resonance imaging showed a ligament cyst compressing the nerve at the L4/5 intervertebral level.Diagnoses:Lumbar ligament cyst.Interventions:Cysts were resected percutaneously via microchannels with the aid of a microscope.Outcomes:The clinical effect was good after 2 year of follow-up. The patient’s clinical effect after surgery was significantly improved compared with that before surgery, and postoperative lumbar spine magnetic resonance imaging showed complete removal of the cyst.Lessons:Lumbar ligament cyst is a rare spinal disease with many case reports. At present, its pathogenesis is not clear, and the current consensus is that it is mostly related to spinal degenerative diseases. The main treatment for lumbar ligamentum flavum cyst is surgery. Microscope-assisted percutaneous microchannel surgical resection of lumbar ligamentum flavum cyst is a safe and effective method that can protect the normal anatomical structure of the lumbar spine to the maximum extent, without destroying the stability of the spine, while reducing surgical trauma.
- Research Article
- 10.1016/j.wneu.2025.124442
- Nov 1, 2025
- World neurosurgery
- Jerzy Gregorczyk + 7 more
Incidence of Spinal Epidural Hematoma After Anterior Cervical Decompression and Fusion: Systematic Review, Meta-Analysis, and Case Report.
- Research Article
- 10.1161/svi270000_023
- Nov 1, 2025
- Stroke: Vascular and Interventional Neurology
- H A Pande + 2 more
Background Spinal Meningiomas account for 38% of primary central nervous system tumors and 25% of intradural extramedullary spinal neoplasms. As a subcategory, spinal meningiomas themselves account for 3% of all central nervous system meningiomas. These slow‐growing, benign lesions appear most commonly present in women and remain asymptomatic. On occasion, however, cervical meningiomas may become symptomatic due to nerve root or spinal cord compression. Here we present a case of a 61‐year‐old male who experienced an ischemic stroke due to external compression of the vertebral artery due to the spinal meningioma. Methods A 61‐year‐old man presented to the Emergency Department with acute onset dizziness, nausea, vomiting, chest pain, gait imbalance, and confusion. His examination showed facial droop, dysarthria and dysphagia. MRI of the brain and CTA of the head revealed an acute right vertebral artery thrombosis and ischemic changes involving the right cerebellar hemisphere and right medulla. An intradural, extramedullary mass consistent with a meningioma was identified compressing the right vertebral artery at the spinal C1‐C2 level. This neoplasm, which also caused asymptomatic spinal cord compression without MR parenchymal signal changes was felt to have been responsible for arterial thrombosis and subsequent thromboembolic ischemic stroke. Results Patient management included 4000 units of intravenous heparin load followed by heparin infusion with goal PTT 50‐70, along with 300 mg of rectal aspirin. The patient opted to forego tumor resection until he recovered from the stroke. More than a month post‐stroke, the patient's neurologic examination revealed mild dysarthria and dysphagia. Conclusions This case describes the rare instance of a cervical, intradural, extramedullary tumor (presumed to be a meningioma) presenting as a vertebral artery distribution thromboembolic cerebellar stroke secondary to external vascular compression and arterial occlusion. Key Words Spinal meningioma, ischemic stroke, vertebral artery thrombosis
- Research Article
- 10.1093/rap/rkaf111.115
- Nov 1, 2025
- Rheumatology Advances in Practice
- Aqsam Shahbaz + 2 more
Abstract Introduction Progressive proximal muscle weakness with elevated creatine kinase poses a diagnostic challenge, often requiring exclusion of inflammatory, neurogenic, and metabolic myopathies. We present a 58-year-old woman with insidious onset of leg heaviness progressing to severe mobility impairment, bulbar symptoms, and elevated CK. Initial workup including autoantibodies, MRI spine, and EMG was inconclusive. Muscle biopsy ultimately revealed a lipid storage abnormality, highlighting a rare metabolic myopathy. This case underscores the importance of comprehensive neuromuscular evaluation in atypical presentations of muscle weakness. Case description A 58-year-old woman presented with a progressive history of lower limb heaviness and weakness starting in August 2024. Initially attributed to a possible lumbar spine pathology, she experienced gradual deterioration over several months, culminating in a fall and significant impairment of her mobility. Despite physiotherapy and analgesic treatment for a broad-based L4/5 disc bulge, her symptoms worsened, involving proximal muscle weakness, difficulty climbing stairs, and reliance on a wheelchair for ambulation. A few months later she developed bilateral shoulder pain and was commenced on corticosteroids for presumed polymyalgia rheumatica in primary care, but the treatment had no impact on symptoms. Around this time she commenced tirzepatide for weight loss and her symptoms progressed more rapidly. She noticed some bulbar symptoms including tongue numbness and her weakness worsened. She was referred to a general rheumatology clinic and initial assessment revealed no evidence of an inflammatory arthritis or connective tissue disease features. Family history included a sister who died due to cardiomyopathy. Baseline investigations revealed a raised creatine kinase of 1000 IU/L with negative autoantibody screen including myositis line blot, and MRI thigh showing mild STIR changes in adductor muscles. Electromyography suggested possible myopathic changes without definitive myositis. Muscle biopsy from the thigh revealed a lipid storage abnormality. The patient is undergoing further genetic testing under the care of the neuromuscular team. Discussion This case illustrates a diagnostic challenge in a middle-aged woman presenting with progressive proximal muscle weakness, bulbar symptoms, and elevated creatine kinase (CK), ultimately diagnosed with a lipid storage myopathy. The initial presentation with leg heaviness and gradual functional decline was initially attributed to lumbar spine pathology, supported by MRI findings of an L4/5 disc bulge. However, the lack of clinical improvement and progression to severe weakness, dysarthria, and impaired mobility suggested a primary neuromuscular disorder rather than purely mechanical nerve root compression. The differential diagnosis included inflammatory myopathies, motor neuron disease, metabolic myopathies, and neuropathies. Lack of connective tissue disease features, normal autoantibody screening and absence of myositis features on EMG reduced the likelihood of an inflammatory myopathy, while preserved reflexes and normal sensation argued against a large fibre neuropathy. The EMG showed mild myopathic features, but was non-specific. Importantly, muscle biopsy identified lipid storage abnormality, confirming a metabolic myopathy as the underlying cause. Lipid storage myopathies represent a heterogeneous group of inherited or acquired disorders characterised by abnormal lipid accumulation in muscle fibres, leading to muscle weakness and dysfunction. Presentation can be variable, often mimicking inflammatory or neurodegenerative conditions, which complicates early diagnosis. Bulbar symptoms and cranial nerve involvement, as seen in this patient, are less commonly described but may occur in advanced disease. Management of lipid storage myopathies is challenging and often requires multidisciplinary input. Early diagnosis is essential to guide specific therapy, such as dietary modification, supplementation, or targeted metabolic treatments where available. The patient’s poor response to corticosteroids reinforces the importance of accurate diagnosis before immunosuppressive therapy is initiated. This case emphasises the importance of considering metabolic myopathies in patients with unexplained progressive muscle weakness, especially when standard inflammatory and neurogenic workups are inconclusive. Comprehensive neuromuscular evaluation, including muscle biopsy, remains crucial for definitive diagnosis. Key learning points Atypical presentation of proximal muscle weakness: This case highlights the importance of considering a broad differential diagnosis when patients present with progressive proximal muscle weakness. Initial attribution to common causes such as lumbar spine pathology or polymyalgia rheumatica may delay accurate diagnosis and appropriate management. A detailed history and comprehensive clinical assessment is vital in these cases. Role of muscle biopsy in diagnosis: Muscle biopsy remains a critical diagnostic tool when non-invasive investigations are inconclusive. In this case, biopsy revealed a lipid storage abnormality, confirming a metabolic myopathy that would not be detected through standard inflammatory markers or imaging alone. Lipid storage myopathy as a rare but important cause of muscle weakness: Lipid storage myopathies can mimic inflammatory myopathies and neurodegenerative disorders. Recognition of this rare condition is essential, as management strategies differ significantly from those of inflammatory or mechanical causes. GLP-1 inhibitors like tirzepatide stimulate insulin secretion and reduce blood glucose. It is recognised that periods of fasting can lead to worsening metabolic abnormalities in those with an underlying lipid storage disorder. In this case, there is a likely association between tirzepatide usage and deterioration of her symptoms.
- Research Article
- 10.1016/j.clineuro.2025.109174
- Nov 1, 2025
- Clinical neurology and neurosurgery
- Ryo Takahashi + 6 more
Alterations in brain functional connectivity associated with pain relief following intradiscal injection of condoliase: A prospective observational study.