Raras
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Atrofia espinhal-oftalmoplegia-síndrome piramidal
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Introdução

O que você precisa saber de cara

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Esta é uma lista de doenças que começam com a letra "S".

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G12.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026189 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Atrofia espinhal-oftalmoplegia-síndrome piramidal

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.

#2

Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.

PloS one2026

Scoliosis is a progressive spinal deformity that often develops during childhood and adolescence. In Ethiopia, population-level prevalence data are scarce, and school-based screening, though practical, may overestimate cases without radiographic confirmation. Understanding its distribution and severity is critical for guiding clinical and public health strategies. To estimate the prevalence of scoliosis among Ethiopian schoolchildren, characterize its types and severity, and examine associations with clinical and anthropometric variables. A cross-sectional school-based screening was conducted from March 2024 to June 2025 across 42 public primary schools in six regions. Children aged 6-15 years were screened using the Adam's Forward Bend Test and scoliometer; suspected cases (ATR ≥ 7°) were referred for radiographic confirmation. Prevalence estimates and associations were analyzed using chi-square tests and t-tests. Data were analyzed in Python, with quality control ensured through standardized training, pilot testing, and double-entry verification. Of 32,000 children screened, 48 were suspected of scoliosis (0.15%; 95% CI: 0.11-0.20%), and 21 were radiographically confirmed (0.066%; 95% CI: 0.04-0.10%). Congenital scoliosis was most common (61.9%), with male predominance (69%), while idiopathic scoliosis (23.8%) was more frequent in females (60%). Neuromuscular and syndromic scoliosis were rare. Severity analysis showed male predominance in mild and very severe cases, with equal sex distribution in severe scoliosis. The mean Cobb angle was 47.4° (SD ± 28.9), most cases involved the thoracic spine (52.4%), and the rib hump was typically right-sided (61.9%). Cobb angle correlated positively with ATR (r = 0.61) and thoracic loss (r = 0.48), and negatively with age (r = -0.24) and thoracic height (r = -0.46). This study shows that scoliosis prevalence within the school population is low, with adolescent idiopathic cases markedly underrepresented compared to other school-based screening reports. These findings suggest that nationwide school screening programs are not recommended. Instead, efforts should prioritize strengthening diagnostic and referral pathways for clinically evident cases to ensure timely access to specialized care.

#3

Local Translation in Glial Cells of the Brain.

Annual review of cell and developmental biology2026 Mar 16

Local protein synthesis is a conserved mechanism that allows cells with intricate architectures to perform compartment-specific functions. By translating messenger RNAs (mRNAs) at distinct subcellular locations, cells can respond swiftly and precisely to localized stimuli. This strategy is crucial in neurons, whose long processes extend far from the cell body. Disruptions in neuronal local translation have been implicated in neurological disorders, including fragile X syndrome, amyotrophic lateral sclerosis, and spinal muscular atrophy. While much of the spotlight has been on neurons, glial cells-microglia, astrocytes, oligodendrocytes, and radial glia-are increasingly recognized for their own dynamic use of local translation. These support cells exhibit asymmetric mRNA localization, suggesting that local protein synthesis plays key roles in their diverse functions. This review explores the emerging landscape of local translation in glial cells and examines how this finely tuned process contributes to both normal brain function and the development of neurological disease.

#4

Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.

Turkish journal of medical sciences2026

Frailty is a clinical syndrome that affects individuals physically and psychosocially. However, the association between lumbar spinal stenosis (LSS) and frailty remains unclear. This study aimed to compare pain, balance, disability, fear of falling, and quality of life between patients with LSS with and without frailty. This cross-sectional study included 43 frail and 48 nonfrail patients with LSS according to the frailty criteria of Fried et al. Pain intensity (numeric rating scale [NRS]), static balance (single leg stance test [SLST]), dynamic balance (Timed Up and Go test [TUG]), disability (Oswestry Disability Index [ODI]), fear of falling (Falls Efficacy Scale-International [FES-I]), and quality of life (Short form-36 [SF-36]) were assessed. Frailty was observed in 47.3% of patients, and baseline characteristics were similar between the groups (p > 0.05). NRS scores for low back and leg pain, ODI and FES-I scores, and TUG test durations were significantly higher in frail patients with LSS than in nonfrail patients (p < 0.05). SLST durations and SF-36 subscale scores were significantly lower in frail patients with LSS (p < 0.05). TUG duration (p = 0.001, OR = 1.482), physical activity level (p = 0.007, OR = 0.999), and the SF-36 vitality subscale (p = 0.031, OR = 0.968) were significantly associated with frailty in the logistic regression model (p < 0.001). Frail patients with LSS experience greater pain intensity, balance disorders, disability, fear of falling, and poorer quality of life. Moreover, reduced mobility, lower physical activity levels, and decreased vitality are associated with a higher likelihood of frailty in patients with LSS. Therefore, early assessment of frailty in patients with LSS and the implementation of personalized rehabilitation approaches may help mitigate its negative impact.

#5

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Frontiers in molecular neuroscience2026

Peroxisomes are dynamic organelles that play a crucial role in cellular metabolism, particularly in fatty acid degradation, cholesterol homeostasis and reactive oxygen species metabolism. Their dysfunction is associated with severe neurological disorders, including Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD). In this study, we investigated the relationship between cholesterol homeostasis and myelination in postnatal peroxisome-deficient Pex2 knockout mice. We dissected the central nervous system (CNS) of 10-day-old (P10) control and Pex2 -/- mice into five regions: spinal cord, brainstem, cerebellum, diencephalon and cerebral cortex. Catalase activity, a marker enzyme of peroxisomes, was significantly increased in CNS regions of Pex2 -/- mice, indicating an oxidative imbalance. Proteomic analysis revealed significant alterations in peroxisomal proteins and pathways related to neurodegenerative diseases, cholesterol and fatty acid metabolism and mRNA processing. Cholesterol biosynthesis was particularly dysregulated: enzyme activities, mRNA, and protein levels were reduced in white matter regions but increased in the cerebral cortex. The elevated desmosterol levels in the brain of Pex2 -/- mice indicate impaired cholesterol synthesis. Sphingolipid metabolism was also altered in the peroxisome-deficient CNS, as the protein levels of enzymes dihydroceramide desaturase 1, ceramide synthase 2, fatty acid 2-hydroxylase, and UDP-glycosyltransferase 8 were significantly decreased. Myelination was significantly reduced throughout the CNS, as evidenced by decreased activities of the myelin marker 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) and decreased mRNA and protein levels of myelin-associated proteins. The consistent decrease in ribosomal protein S6 phosphorylation in the CNS of Pex2 -/- mice suggests that decreased mechanistic target of rapamycin complex 1 (mTORC1) activity contributes to hypomyelination. Gene expression analysis revealed an upregulation of pro-inflammatory cytokines and altered expression of some homeostatic and disease-associated microglial (DAM) genes. However, full DAM activation was not yet observed in Pex2 -/- mice at P10. In conclusion, this study shows that systemic peroxisome deficiency leads to severe hypomyelination and dysregulation of cholesterol and fatty acid metabolism in the CNS, providing new insights into the pathophysiology of peroxisomal disorders.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.

Pediatric nephrology (Berlin, Germany)
2026

[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
2026

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease
2026

Neuromelioidosis Causing Rapidly Progressing Neurological Syndromes Mimicking Stroke and Demyelination: Insights from a Case Series.

Travel medicine and infectious disease
2026

Improvement in spinopelvic parameters after laminectomy and complete factectomies above prior fusion facilitated by posterior arthroplasty: illustrative case.

Journal of neurosurgery. Case lessons
2026

Targeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.

Journal of neurosurgery. Case lessons
2026

Upadacitinib for the Treatment of Systemic Immune Co-Morbidity in One Case: Alopecia Areata, Vitiligo, Ankylosing Spondylitis, and Allergic Rhinitis-Asthma - Multifaceted Control.

Clinical, cosmetic and investigational dermatology
2026

Development of Carbon Dioxide Embolism During Partial Amniotic Carbon Dioxide Insufflation for Fetoscopic Laser Photocoagulation: A Case Report.

Cureus
2026

Ultrasound-Guided Atelocollagen Injection for Chronic Pain After Spinal Surgery: A Retrospective Cohort Study.

Journal of pain research
2026

Case Report: A rare but critical complication in patients with lumbar infection combined with cauda equina syndrome-sacrococcygeal pressure sores.

Frontiers in medicine
2026

Craniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.

Croatian medical journal
2026

A simple bedside technique for managing a non-deflating Foley catheter balloon in a resource-limited setting - a case report.

International journal of emergency medicine
2026

Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.

PloS one
2026

Schwannosis with mature collagen in the spinal cord of a calf.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2026

Increased VH4+JH6+ antibody heavy chain use in plasmablasts from asymptomatic multiple sclerosis patients.

Genes and immunity
2026

Transvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients.

CVIR endovascular
2026

Intrathecal synthesis of Epstein-Barr virus antibodies 15 years before onset of multiple sclerosis.

Multiple sclerosis (Houndmills, Basingstoke, England)
2026

Physiotherapist's Management of Suspected Cauda Equina Syndrome in the United Kingdom: A National Survey.

Physiotherapy research international : the journal for researchers and clinicians in physical therapy
2026

Local Translation in Glial Cells of the Brain.

Annual review of cell and developmental biology
2026

A clinico-molecular classification scheme for ossification of ligamentum flavum: Based on 1034 cases.

Journal of orthopaedic translation
2026

Does magnetic resonance imaging morphology correlate with preoperative neurological status in operatively treated lumbar canal stenosis? A retrospective study.

Asian spine journal
2026

Prevalence and factors associated with muscle atrophy and frailty in Vietnamese elderly with knee osteoarthritis and chronic spinal pain.

Chinese journal of traumatology = Zhonghua chuang shang za zhi
2026

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Molecular genetics and metabolism
2026

Course and predictors of somatic symptom disorder in irritable bowel syndrome and ulcerative colitis: A longitudinal analysis from the SOMA.GUT-RCT.

General hospital psychiatry
2026

Non-tobacco nicotine dependence and incidence of pseudarthrosis and other postoperative complications in lumbar fusion surgery: a retrospective analysis.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2026

Symptomatic Spontaneous Intracranial Hypotension Caused by a Cerebrospinal Fluid Leak at the C1-C2 Level of the Spine Sealed With an Epidural Blood Patch-Case Series and Review of Literature.

Pain practice : the official journal of World Institute of Pain
2026

Ultrasound imaging of the spinal accessory nerve in the neck.

Ultrasound (Leeds, England)
2026

Application value of serum high mobility group protein B1 (HMGB1) and soluble triggering receptor-1 (sTREM-1) levels in the prognostic assessment of trauma.

Journal of medical biochemistry
2026

Elsberg Syndrome in Varicella Zoster Virus Infection.

The Journal of the Association of Physicians of India
2026

Analysis of 5317 Consecutive Pediatric Spinal Deformity Intraoperative Neuromonitoring (IONM) Alerts: Importance of Normotension at Correction and IONM Recovery.

Spine
2026

Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.

Turkish journal of medical sciences
2026

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Frontiers in molecular neuroscience
2026

Acute Cauda Equina Syndrome Due to Primary Lumbar Spinal Hydatid Cyst: A Rare Case.

Journal of orthopaedic case reports
2026

Silent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.

International medical case reports journal
2026

Ventral Spinal Cord Displacement as a Cause of Thoracic Myelopathy: A Case Series of Nine Patients with Special Consideration of Magnetic Resonance Imaging Findings.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.

Journal of spine surgery (Hong Kong)
2026

Adult spinal process impingement syndrome: progression and staging.

Scientific reports
2026

Ultrasound-guided selective nerve root blocks and caudal epidural injection in the management of lumbar radicular syndrome: a case series with one-year follow-up.

Journal of ultrasound
2026

Neuromodulation for Restless Legs Syndrome: A Systematic Review and Mechanistic Considerations for Spinal Cord Stimulation.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Foix-Alajouanine syndrome caused by MRI occult thoracic ventral perimedullary arteriovenous fistula: illustrative case.

Journal of neurosurgery. Case lessons
2026

Long-term relief of refractory trigeminal neuropathy using high-frequency spinal cord stimulation at the cervicomedullary junction: a 6-year follow-up case report.

Frontiers in neuroscience
2026

Traumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.

Cureus
2026

Pharmacologic Management of Neuropathic Pain After Lumbar Spine Surgery: A Case-Based Review.

Orthopedic reviews
2026

Effect of standardized reporting template on turnaround times of on-call radiology residents' preliminary interpretation of spinal cord or cauda equina compression.

Emergency radiology
2026

Risk Factors for Spinal Cord Stimulator Explant After Implantation for Neuropathic Pain: A Systematic Review.

Neuromodulation : journal of the International Neuromodulation Society
2026

To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

Journal of mother and child
2026

Cauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

The Association of Operative versus Nonoperative Treatment for Lumbar Spondylolisthesis and Stenosis with Future Metabolic Conditions and Allostatic Burden: An Emulated Target Trial.

The spine journal : official journal of the North American Spine Society
2026

Radiographic Sagittal Alignment and Neurological Changes Following Conservative Cervical Structural Rehabilitation After Motor Vehicle Collision in a Patient With Pre-existing Scoliosis: A Case Report.

Cureus
2026

Delayed cauda equina compression caused by BioGlue®-induced granulomatous reaction following spinal dural repair: A case report.

Surgical neurology international
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

Clinical Insights and Statistical Analysis of Failed Back Surgery Syndrome: A Multicentric Retrospective Review.

Asian journal of neurosurgery
2026

EXPRESS: miRNA-let7b5p Alleviates Visceral Hypersensitivity by Inhibiting the Activation of Spinal Microglial in Male IBS-like Rats.

Molecular pain
2026

Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study.

Auris, nasus, larynx
2026

Zorevunersen in Children and Adolescents with Dravet Syndrome.

The New England journal of medicine
2026

Simultaneous Closed-Loop Inceptiv Spinal Cord Stimulator and Bladder InterStim Implantation - A Case Report.

Pain medicine case reports
2026

Bilateral Upper Extremity Neuropathy and Paraplegia: A Case Report.

Pain medicine case reports
2026

Radiofrequency Ablation for the Treatment of Pain Related to Bertolotti's Syndrome: A Case Report.

Pain medicine case reports
2026

Externally Powered Peripheral Nerve Stimulator With a Separate Receiver at the Median Nerve for the Treatment of Postoperative Carpal Tunnel Release-Related Chronic Pain in the Upper Extremity: A Case Report.

Pain medicine case reports
2026

Diagnostic Challenge of a Tumor-mimicking Spinal Pseudogout Lesion: Case Report and Literature Review.

Cancer diagnosis &amp; prognosis
2026

Rare Case of Multifocal Spinal Hemangioblastomas With Holocord Syringo-Hydromyelia in an Adolescent Male.

Cureus
2026

[Spinal lncRNA_RT1-CE10 attenuates chronic visceral hypersensitivity in rats with irritable bowel syndrome via inhibiting microglial activation].

Sheng li xue bao : [Acta physiologica Sinica]
2026

Oxytocin relieves visceral hypersensitivity through GABAB1-TRPV1 in rats with irritable bowel syndrome.

Sheng li xue bao : [Acta physiologica Sinica]
2026

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Proceedings of the National Academy of Sciences of the United States of America
2026

Scoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.

Journal of pediatric orthopedics
2026

Blood biomarkers of inflammation and brain-derived neurotrophic factor can not be used to assess the effectiveness of collagen mesotherapy in chronic cervical myofascial pain syndrome. A pilot single-blind randomized study.

Rheumatology international
2026

Increased fibroblast growth factor 21 is associated with metabolic syndrome in chronic spinal cord injury: A cross-sectional study.

The journal of spinal cord medicine
2026

A case of Brown-Séquard syndrome due to spınal cord infarctıon following percutaneous coronary intervention.

The journal of spinal cord medicine
2026

Postural Orthostatic Tachycardia Syndrome Presenting With Recurrent Syncope After Cervical Spinal Cord Injury.

Clinical case reports
2026

Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.

Journal of clinical neuromuscular disease
2026

Spinal cord syndrome: uncovering the risks of nitrous oxide abuse.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

The Suspected Cauda Equina Syndrome Score (SuCESS) : development and validation of a clinical triage tool.

The bone &amp; joint journal
2026

Understanding Cutaneous Sensory Syndromes: Diagnostic challenges and therapeutic implications.

Clinical and experimental dermatology
2026

Pressing Intervention Alleviates Pain in Rats With Myofascial Trigger Points via the TRPV1 Channel in Unmyelinated C-Type Sensory Nerve Fibers.

Journal of integrative neuroscience
2026

Plaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.

Prion
2026

Aquaporin-4 (AQP4) antibody-positive neuromyelitis optica spectrum disorder (NMOSD) complicated with acute pancreatitis: A case report.

Medicine
2026

Increased cerebrospinal fluid YKL-40 concentration in hip fracture patients with delirium.

Brain communications
2026

A Prospective Clinical and Radiological Study of Symptomatic Upper Lumbar Disc Herniation in the Indian Population.

Cureus
2026

Neuropathic Pain in Neuromyelitis Optica Spectrum Disorders: Prevalence and Management Strategies-A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2026

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

International journal of molecular sciences
2026

A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.

Genes
2026

CLIPPERS mimicking multifocal brain metastases: a diagnostic challenge.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Transcutaneous Spinal Cord Stimulation Improves Upper and Lower Limbs' Motor and Sensory Function in a Subject with Central Cord Syndrome: A Case Report.

Neurology international
2025

Clopidogrel-induced drug-induced hypersensitivity syndrome following percutaneous coronary intervention: a case report of therapeutic dilemma and management strategy.

Frontiers in pharmacology
2026

Dosimetric optimization and clinical feasibility of the block technique in helical tomotherapy for bilateral breast cancer.

Medical dosimetry : official journal of the American Association of Medical Dosimetrists
2026

Multi-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2026

Association Between Occupational Physical Work Exposure and Wild-Type Transthyretin Cardiomyopathy.

JACC. Advances
2026

Anesthetic considerations in surgery for early onset scoliosis: Challenges and advancements.

Journal of clinical orthopaedics and trauma
2026

[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

[Comparison of effectiveness between endoscopic and microscopic anterior cervical discectomy and fusion].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

Two-level fusion for Bertolotti syndrome and concomitant adjacent segment disease: patient series.

Journal of neurosurgery. Case lessons
2026

Severe Post-spinal Bezold-Jarisch Reflex During Emergency Caesarean Delivery Unmasking Wolff-Parkinson-White Pattern.

Cureus
2026

Tethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.

Cureus
2026

A Modern Approach to Brown-Séquard Syndrome: A Case Report.

Cureus
2026

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.

Frontiers in immunology
2025

A pediatric case of idiopathic harlequin syndrome.

Dermatology online journal
2026

Arthroscopic-assisted uni-portal spinal surgery technology in the treatment of far-out syndrome: A case report and literature review.

The Journal of international medical research
2026

Clinical effectiveness of spinal cord stimulation in managing refractory upper-extremity pain.

Neurosurgical review
2026

Traumatic Spinal Cord Infarction Associated With Elevated Intracranial and Intraspinal Pressure in a Pediatric Patient: A Case Report and Review of the Literature.

Cureus
2026

Surgical Treatment of Idiopathic spinal cord herniation: A Case Report under Neuromonitoring and Meta-analysis of 211 reviewed Cases.

Brain &amp; spine
2026

Horner Syndrome Following an Upper Thoracic Vertebral Column Resection for Congenital Scoliosis: A Case Report.

JBJS case connector
2026

Pediatric Horner's syndrome following posterior spinal fusion: a case series.

Spine deformity
2026

Surgical options of left subclavian artery revascularization in the endovascular repair of the aortic arch.

The Journal of cardiovascular surgery
2026

Impact of Postoperative Chronic Back Pain Syndrome on the Incidence of Psychiatric and Brain Disorders, and All-Cause Mortality.

Journal of pain research
2026

Occipital shuntalgia: Rethinking post-shunt occipital headache etiology and care.

Acta neurochirurgica
2026

Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.

JACC. CardioOncology
2026

Case Report: Multi-sensory integration treatment for preschool children with intermittent exotropia and idiopathic scoliosis comorbidity.

Frontiers in medicine
2026

Long-term efficacy of neuromodulation in chronic pain management: a single-center retrospective study.

Frontiers in pain research (Lausanne, Switzerland)
2026

Mendelian randomization analysis of labor anesthesia and adverse neonatal outcomes.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2026

A Case of Posterior Reversible Encephalopathy Syndrome Complicating a Thoracic Spinal Subdural Hematoma.

Cureus
2026

Luton cauda equina syndrome pathway: a pragmatic approach to achieve a national target of time to scan in UK district general hospitals.

Bone &amp; joint open
2026

Prevalence of Low Back Pain and its Association with Spinal Alignment Measured by Spinal Mouse in School-Age Children: KID Locomo Study.

Spine surgery and related research
2026

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Cureus
2026

Neuraxial Anesthesia in a Parturient With Newly Diagnosed Klippel-Trenaunay Syndrome: A Case Report.

Cureus
2026

Case Report: Absent F-Waves in a Case of Spinal Ischemia - A Potential Source of Diagnostic Error.

Case reports in neurology
2026

Association Between Lumbosacral Transitional Vertebrae and Spondylolisthesis: A Systematic Review and Meta-Analysis.

Clinical anatomy (New York, N.Y.)
2026

A case of myelin oligodendrocyte glycoprotein antibody-associated disease presenting with radiculopathies.

Rinsho shinkeigaku = Clinical neurology
2026

Centrally Mediated Disorders of Gastrointestinal Pain.

Gastroenterology
2026

Purpose-Adaptable Reinforced 3D Hyaluronic-Acid Based Platform to Study Pathomechanisms of the Central Nervous System.

Advanced healthcare materials
2026

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal of translational medicine
2026

Genetic Syndromes Associated With Congenital Upper Limb Differences.

The Journal of hand surgery
2026

Impact of chronic thrombocytopenia on clinical outcomes after single-level anterior cervical discectomy and fusion: an analysis of the nationwide inpatient sample of the US.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Performance of the 2024 McDonald Criteria in Patients Under Evaluation for Suspected Multiple Sclerosis.

Neurology
2026

Motor Recovery After a Hemispherectomy: Review of Mechanisms and the Potential of Neuromodulation to Enhance Motor Outcomes.

Journal of child neurology
2026

Melatonin Mitigates Central Sensitization and Nociplastic Pain in Spinal Cord and Dorsal Root Ganglia of FM Rat Model: Modulation of SIRT1/PGC-1α/MAPK/NF-κB Signaling.

Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology
2026

A Translational Roadmap for Neurological Nonsense Mutation Disorders.

International journal of molecular sciences
2026

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

American journal of medical genetics. Part A
2026

Fatal Spinal Cord Edema Following Cervical Decompression Surgery Possibly Associated with Dialysis Disequilibrium Syndrome: A Case Report.

JMA journal
2026

Neuromyelitis optica spectrum disorder in an 11-year-old: a case report in a pediatric patient from Nepal.

Annals of medicine and surgery (2012)
2026

A comparison of reverse shoulder arthroplasty and glenohumeral arthrodesis for end-stage shoulder instability.

JSES international
2026

Impact of Surgical Timing on Neurological Outcomes in Acute Lumbar Disc Herniation: Ultra-Early Versus Delayed Microdiscectomy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2026

High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.

Journal of neuro-oncology
2026

Combined ultrasound-guided C2 DRG pulsed radiofrequency and suboccipital myofascial plane block for cervicogenic headache: a retrospective study.

Frontiers in pain research (Lausanne, Switzerland)
2026

Addressing Bilateral Post-traumatic Distal Radius Growth Arrest with Positive Ulnar Variance with Acute Ulnar Shortening Osteotomy and Distal Radioulnar Joint Fixation in a 13-Year-Old Child: A Case Report.

Journal of orthopaedic case reports
2026

[Principles of systematization and formation of surgical strategies for craniovertebral region lesions].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2026

Nocturnal emissions or wet dreams: modern evidence from a systematic scoping review.

Sexual medicine reviews
2026

Comparison of dexmedetomidine and morphine versus plain ropivacaine 0.2% for myofascial infiltration in thoracolumbar spinal fusion: a double-blind randomized trial.

Asian spine journal
2025

Complications Associated With Removal of Paddle and Cylindrical Spinal Cord Stimulator Electrodes.

Clinical spine surgery
2026

Tourette syndrome with cervical instability and expeditious instrumentation failure: A case report and review of the literature.

Surgical neurology international
2026

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Journal of clinical orthopaedics and trauma
2026

Spinal Cord Stimulation in Complex Regional Pain Syndrome: A Narrative Review.

Cureus
2026

Tumor-induced osteomalacia caused by phosphaturic mesenchymal tumor in the thoracic spine: an uncommon site.

Journal of diabetes and metabolic disorders
2026

Ketamine for acute and chronic pain: beyond anaesthesia.

Pain management
2026

The Rising Use of Navigation in Pediatric Spine Procedures: Trends and Factors.

Journal of pediatric orthopedics
2026

Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.

Annals of vascular surgery
2026

Flocoumafen exposure induces skeletal developmental toxicity and neurotoxicity in zebrafish (Danio rerio).

Toxicology letters
2026

Comparative Outcomes of Single-Level Lumbar Laminectomy versus Hemilaminectomy: A Retrospective TriNetX Analysis.

Global spine journal
2026

The role of genetics and molecular mechanisms in early onset scoliosis.

Journal of clinical orthopaedics and trauma
2026

Differential diagnosis of degenerative cervical myelopathy considered in patients spine surgeons referred to neurologists: a retrospective cohort study.

BMC musculoskeletal disorders
2026

[A case of cryptogenic stroke with platypnea-orthodeoxia syndrome and paroxysmal atrial fibrillation].

Rinsho shinkeigaku = Clinical neurology
2026

Feasibility of modified halo-pelvic distraction technique in the management of severe spinal deformities in low- and middle-income countries: a pilot study in East Africa.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2025

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.

The Turkish journal of pediatrics
2025

White cord syndrome: A rare complication of adequate spinal cord decompression. A case report and review of current literature.

Brain &amp; spine
2026

Concurrent Presentation of Idiopathic Intracranial Hypertension and Bilateral Optic Perineuritis in a Young Boy: A Rare Clinical Entity.

Cureus
2025

Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review.

Frontiers in oncology
2026

Neuromuscular Scoliosis as a Rare Manifestation of Guillain-Barré Syndrome in a Child.

Cureus
2026

Caudal Duplication Syndrome: A Case Report Emphasizing Functional Assessment in Surgical Management.

Cureus
2026

Sexuality and sexual health in primary tic disorders.

Handbook of clinical neurology
2026

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Zhonghua nei ke za zhi
2026

Clinical Features and Outcomes of Posterior Spinal Artery Infarctions - A Review.

Neurology India
2026

Neurologic Complications of Cancer and Its Treatment.

Continuum (Minneapolis, Minn.)
2026

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion.

Journal of medical cases
2025

Sacral Tarlov cysts and spontaneous persistent genital arousal: 2 unrecognized and underappreciated health conditions with an uncertain relationship.

AJOG global reports
2026

MRI as a key tool in presumptive antemortem diagnosis of rabies: A case report.

Radiology case reports
2026

A different perspective on cervical X-ray parameters in nTOS: could it play a role in pathophysiology?

Journal of orthopaedic surgery and research
2026

Selecting Neuromodulation Devices For Chronic Pain Conditions: A Narrative Review.

Pain physician
2026

Inhibition of bladder sensory afferents via intrabladder injection of adenoassociated viruses-retro-mediated Gi-DREADDs alleviates bladder overactivity and pain in mice.

Pain
2025

Mechanisms and clinical progress of spinal cord stimulation in refractory chronic pain: an overview.

Frontiers in neurology
2025

Analgesic effects of bulleyaconitine A: new advances in research from ion channel targets to clinical translation.

Frontiers in pharmacology
2026

Clinical characterization and management of persistent genital arousal disorder/genito-pelvic dysesthesia (PGAD/GPD): a registry study.

Sexual medicine
2025

Ruptured spinal dural arteriovenous fistula with subdural hematoma: A case report.

Surgical neurology international
2026

The Effects of Lumbar Spinal Fusion on Spinopelvic Biomechanics Years After Primary Total Hip Arthroplasty: A Case Report.

Cureus
2026

Persistent fever: Anti-KS syndrome overlaps with multidrug-resistant infections (MDRO) in a cervical spinal cord injury (CSCI) patient.

Respiratory medicine case reports
2026

[Development of a novel clinical prediction model for musculoskeletal chest pain in the emergency department].

Orvosi hetilap
2026

Iatrogenic botulism: a risk for botulinum toxin's medical use?

Journal of neural transmission (Vienna, Austria : 1996)
2026

Constructing Neurology: Jean-Martin Charcot (1825-1893): A Bicentenary Tribute.

Movement disorders clinical practice
2026

Successful treatment of pre-extensively drug-resistant tuberculous meningoencephalomyelitis in pregnancy with a bedaquiline and delamanid-based regimen: a case report.

BMC infectious diseases
2026

Zinc chelation therapy mitigates muscle fibrosis and improves functional outcomes in a murine model of crush syndrome.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2026

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Research in developmental disabilities
2026

Modulation of spinal and cortical neuronal excitability by transcutaneous spinal direct current stimulation in restless legs syndrome.

Sleep medicine
2026

Inhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.

Science advances
2026

Spinal cord perfusion pressure protocol for acute spinal cord injury: Pragmatic implementation and early results at two sites.

PloS one
2026

The Effects of Tonic and Burst Spinal Cord Stimulation on Cortical Pain Processing and Their Interaction With Conditioned Pain Modulation.

Neuromodulation : journal of the International Neuromodulation Society
2026

Frozen elephant trunk for acute type A aortic dissection: long-term outcomes over two decades.

European heart journal
2026

Pathophysiology of Chronic Pain.

The Clinical journal of pain
2025

Diagnostic biomarkers for differentiating AQP4-IgG- negative NMOSD from other nervous system autoimmune disorders: a retrospective study.

Frontiers in immunology
2026

Ethanol-precipitated Saccharides: Essential for Danggui Sini decoction against oxaliplatin-induced neurotoxicity.

Journal of ethnopharmacology
2026

[XVII Post-ECTRIMS Meeting: Review of the New Developments Presented at the 2024 ECTRIMS Congress (I)].

Revista de neurologia
2026

Gender-Based Analysis of Perioperative and Early Postoperative Complications in Tubular Microdiscectomy for Lumbar Disc Prolapse: A Retrospective Comparative Study.

Health science reports
2026

Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.

Hereditary cancer in clinical practice
2026

Neurophysiological insights into iNPH: ABR and CAEP responses to lumbar puncture and shunt surgery.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2026

Peripheral Immune Remodeling After Spinal Cord Injury: Marked by Expansion of CD38+, CTLA-4+, and PD-1+ T and NK Cells.

Neurology(R) neuroimmunology &amp; neuroinflammation
2026

Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.

Orthopedic nursing
2026

The characteristics and surgical outcomes of atlantoaxial instability in pediatric patients with Down syndrome: a case-match study.

Journal of pediatric orthopedics. Part B
2026

The Relationship Between Emotion Processing and Flexor Afferent Responses in Upper Limbs.

Sensors (Basel, Switzerland)
2026

Gastrointestinal Diagnostic Coding After Spinal Cord Injury: Health Behavior Correlates and Implications for Neurogenic Bowel Management in a Nationwide Claim-Based Cohort.

Journal of clinical medicine
2026

Pain Hypersensitivity in a Mouse Model of Marfan Syndrome.

Antioxidants (Basel, Switzerland)
2026

Advances in the Pathophysiology and Management of Cancer Pain: A Scoping Review.

Cancers
2026

Imaging persistent spinal pain syndrome and spine surgery complications: an interpretation guide for radiologists.

Insights into imaging

Associações

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Doenças relacionadas

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Ainda não achamos doenças com sintomas parecidos o suficiente.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  2. Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
    PloS one· 2026· PMID 41860820mais citado
  3. Local Translation in Glial Cells of the Brain.
    Annual review of cell and developmental biology· 2026· PMID 41838432mais citado
  4. Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.
    Turkish journal of medical sciences· 2026· PMID 41816753mais citado
  5. Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.
    Frontiers in molecular neuroscience· 2026· PMID 41815956mais citado
  6. Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
    Orphanet J Rare Dis· 2025· PMID 39856766recente
  7. Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
    Orphanet J Rare Dis· 2024· PMID 39272200recente
  8. The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.
    Orphanet J Rare Dis· 2024· PMID 38831282recente
  9. The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
    Orphanet J Rare Dis· 2024· PMID 38515144recente
  10. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
    Orphanet J Rare Dis· 2022· PMID 36517856recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1217(Orphanet)
  2. MONDO:0015250(MONDO)
  3. GARD:4942(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785356(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Atrofia espinhal-oftalmoplegia-síndrome piramidal
Compêndio · Raras BR

Atrofia espinhal-oftalmoplegia-síndrome piramidal

ORPHA:1217 · MONDO:0015250
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
G12.2 · Doença do neurônio motor
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2930956
Wikidata
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