Raras
Buscar doenças, sintomas, genes...
Síndrome de leucoencefalopatia-distonia-neuropatia motora
ORPHA:163684CID-10 · E75.2OMIM 613724PCDT · SUSDOENÇA RARA

Doença neurodegenerativa peroxissomal caracterizada por torcicolo espasmódico, tremor distônico da cabeça, tremor intencional, nistagmo, hiposmia e hipogonadismo hipergonadotrófico com azoospermia. Sinais cerebelares leves (tremor intencional do lado esquerdo, equilíbrio e comprometimento da marcha) também são observados. A ressonância magnética (RM) mostra sinais hiperintensos bilaterais no tálamo, lesões semelhantes a borboletas na ponte e lesões na região occipital, enquanto estudos de condução nervosa das extremidades inferiores mostram uma neuropatia predominantemente motora e sensorial leve.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença neurodegenerativa peroxissomal caracterizada por torcicolo espasmódico, tremor distônico da cabeça, tremor intencional, nistagmo, hiposmia e hipogonadismo hipergonadotrófico com azoospermia. Sinais cerebelares leves (tremor intencional do lado esquerdo, equilíbrio e comprometimento da marcha) também são observados. A ressonância magnética (RM) mostra sinais hiperintensos bilaterais no tálamo, lesões semelhantes a borboletas na ponte e lesões na região occipital, enquanto estudos de condução nervosa das extremidades inferiores mostram uma neuropatia predominantemente motora e sensorial leve.

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
Childhood
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponívelCID-10: E75.2
🇧🇷Dados SUS / DATASUS2024
890
internações/ano
R$ 45.670
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPRJMGRSPR
PROCEDIMENTOS SIGTAP (8)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)enzyme_replacement
0202080013
Teste do pezinho (triagem neonatal)rehabilitation
0303050101
Infusão de imiglucerase (Gaucher)
+2 outros procedimentos
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
4 sintomas
👂
Ouvidos
1 sintomas
📏
Crescimento
1 sintomas
💪
Músculos
1 sintomas
👁️
Olhos
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Deficiência auditiva
Obrigatório (100%)
100%prev.
Hipogonadismo hipergonadotrófico
Obrigatório (100%)
100%prev.
Velocidade de condução nervosa motora diminuída
Obrigatório (100%)
100%prev.
Sensação vibratória prejudicada
Obrigatório (100%)
100%prev.
Tremor intencional
Obrigatório (100%)
100%prev.
Lesão focal hiperintensa em T2 no tálamo
Obrigatório (100%)
17sintomas
Muito frequente (16)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.

Deficiência auditivaHearing impairment
Obrigatório (100%)100%
Hipogonadismo hipergonadotróficoHypergonadotropic hypogonadism
Obrigatório (100%)100%
Velocidade de condução nervosa motora diminuídaDecreased motor nerve conduction velocity
Obrigatório (100%)100%
Sensação vibratória prejudicadaImpaired vibratory sensation
Obrigatório (100%)100%
Tremor intencionalIntention tremor
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026182 papers
Linha do tempo
2026Hoje · 2026🧪 2012Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

SCP2Synaptonemal complex protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (1)
Peroxisomal protein import
MECANISMO DE DOENÇA

Spermatogenic failure 1

An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
122.6 TPM
Ovário
42.2 TPM
Nervo tibial
42.0 TPM
Artéria coronária
41.9 TPM
Adipose Visceral Omentum
41.7 TPM
OUTRAS DOENÇAS (1)
sterol carrier protein 2 deficiency
HGNC:10606UniProt:Q9BX26

Variantes genéticas (ClinVar)

50 variantes patogênicas registradas no ClinVar.

🧬 SCP2: NM_002979.5(SCP2):c.1135_1136dup (p.Gln380fs) ()
🧬 SCP2: NM_002979.5(SCP2):c.1081+5109G>A ()
🧬 SCP2: NM_002979.5(SCP2):c.332-214A>T ()
🧬 SCP2: NM_002979.5(SCP2):c.70-12C>G ()
🧬 SCP2: NM_002979.5(SCP2):c.109G>A (p.Asp37Asn) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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 — Síndrome de leucoencefalopatia-distonia-neuropatia motora

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications2026 Mar 19

We identified a new progeroid syndrome with severe neuropathy and intellectual deficits but its underlying cellular and molecular mechanism is unknown. Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene, which encodes IVNS1ABP, an influenza virus non-structural protein-1 binding protein. To investigate disease mechanisms, we generated isogenic induced pluripotent stem cells (iPSCs) from patient fibroblasts and differentiated them into neural progenitor cells (NPCs). Mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited defective cytokinesis, increased DNA damage, and premature cellular senescence. Consistent with these findings, cerebral organoids showed early differentiation of NPCs into neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin / actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy.

#2

Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.

Frontiers in rehabilitation sciences2026

Medial epicondylitis is an overuse syndrome characterized by degeneration of the flexor-pronator tendons in the elbow, resulting from repetitive forced wrist flexion and forearm pronation. Due to its anatomical location, medial epicondylitis patients may also feature ulnar nerve instability, which can exacerbate symptoms and negatively impact treatment outcomes. Although conservative treatments remain the cornerstone of care for managing medial epicondylitis, the optimal treatment method remains an open question. To evaluate the effects of a combined extracorporeal shockwave therapy (ESWT) protocol on pain, symptom severity, and functional outcomes in medial epicondylitis patients with concomitant ulnar nerve instability. Retrospective case series study with two-year post-treatment follow-up. Center for Rehabilitative Medicine "Sport and Anatomy", University of Pisa. Patients underwent a combined ESWT using the Duolith SD1 ultra device (Storz Medical AG., Switzerland), consisting of sequential focal (0.15-0.20 mJ/mm2, 5-6 Hz, 1,000 shocks) and radial (1.3-1.8 mJ/mm2, 14 Hz, 2,000 shocks) shockwave application per session. Each patient received three to five weekly sessions. Medial epicondylitis patients with concomitant ulnar nerve involvement who underwent a combined ESWT protocol between September 2019 and May 2023. Pain severity and upper limb disability were assessed with the numerical rating scale, the shortened Disabilities of the Arm, Shoulder and Hand questionnaire, and the Ulnar Neuropathy at the Elbow Questionnaire. Patient treatment satisfaction was evaluated with the Roles and Maudsley score. Of the reviewed 15 consecutive medical charts, only three subjects fulfilled the inclusion criteria. Two patients showed a marked decrease in pain and improved functionality scores at all time points; one patient remained unchanged throughout the study; no adverse effects were observed. This retrospective study suggests that ESWT may be efficacious and safe for treating medial epicondylitis patients with concurrent ulnar nerve instability. Prospective studies with a larger sample size are needed to warrant the present results.

#3

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Journal of neurology2026 Mar 16

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is caused by biallelic pathogenic repeat expansions in the RFC1 gene. Chronic cough can precede the neurological features of CANVAS by decades and, in some instances, may be the sole clinical manifestation. However, the prevalence of biallelic RFC1 repeat expansions among patients with unexplained chronic cough (UCC), as well as the diagnostic utility of targeted neurological screening in this setting, remains unclear. In this 6-month pilot study, 13 consecutive patients with UCC underwent a standardized neurological evaluation and screening nerve conduction studies (NCS) during a single clinical visit. All patients were subsequently tested for RFC1 repeat expansions. Those carrying biallelic pathogenic expansions (RFC1+) were further assessed with extended NCS, electrochemical skin conductance (ESC), and thermal quantitative sensory testing (QST). Three patients (23%) were RFC1+. Clinical and demographic features did not significantly differ between RFC1+ and RFC1- groups. All RFC1+ individuals exhibited marked bilateral reduction in radial and sural sensory nerve action potential (SNAP) amplitudes. In contrast, only two RFC1- patients showed reduced sural SNAPs. QST revealed impaired cold detection thresholds with preserved warm detection in all RFC1+ cases, while ESC results were normal. These findings suggest that standardized neurological and electrophysiological assessment can detect subclinical sensory neuropathy in UCC patients lacking overt neurological symptoms, thereby identifying those more likely to carry RFC1 expansions. The observed 23% prevalence supports incorporating RFC1 testing into the diagnostic approach for selected UCC patients, particularly when radial SNAP amplitudes are reduced.

#4

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 neuroscience2026

Chronic neuropathic pain profoundly impairs quality of life and often remains refractory to pharmacological or surgical management. Spinal cord stimulation (SCS) is considered a second-line therapy when conventional treatments fail. In this context, high-frequency spinal cord stimulation (HFSCS) targeting the cervicomedullary junction (CMJ) has emerged as a promising option for drug-refractory facial pain syndromes, including trigeminal neuropathy, though clinical evidence remains limited. We report the case of a 67-year-old woman who developed severe right-sided trigeminal neuropathic pain following petroclival meningioma surgery. After multiple unsuccessful interventions, she underwent implantation of a 10 kHz HFSCS system targeting the CMJ. An epidural lead was placed at the C1-C2 level and connected to an implantable pulse generator, delivering continuous stimulation. The procedure produced complete relief of paroxysmal electric shock-like pain and neurophysiological evidence of reduced trigeminal nociceptive activity. Analgesia was sustained for 6 years, with a transient relapse due to battery depletion, which resolved completely after generator replacement. These findings confirm the long-term efficacy and durability of CMJ-targeted HFSCS and highlight the importance of structured follow-up and device maintenance. HFSCS at the CMJ may represent a safe and durable therapeutic option for refractory trigeminal neuropathy, warranting validation through larger prospective studies.

#5

Long COVID neuropathy: The role of mast cells.

Journal of neuropathology and experimental neurology2026 Mar 06

Postacute sequelae of SARS-CoV-2 infection (PASC), or Long COVID, is estimated to affect over 60 million individuals globally, with almost half of COVID-19 survivors experiencing persistent symptoms such as neuropathic pain, fatigue, and autonomic dysfunction. Despite its prevalence, the pathophysiology of PASC remains poorly understood. This narrative review highlights activation of mast cells (MCs), the unique tissue immune cells as a central contributor to neuropathic manifestations in PASC. Mast cell locations near nerves and vessels allows them to regulate neuroimmune and neurovascular processes. Mast cell activation mirrors patterns seen in small-fiber neuropathy and myalgic encephalomyelitis/chronic fatigue syndrome, suggesting a shared immune-mediated etiology. The SARS-CoV-2 spike protein has been shown to activate MCs via angiotensin-converting enzyme 2 and toll-like receptor 4, triggering release of pro-inflammatory and neurotoxic mediators, including interleukin-1β, interleukin-6, tumor necrosis factor alpha, histamine, and tryptase. Such mediators sensitize peripheral nerves, disrupt the blood-brain barrier, and recruit microglia, ultimately contributing to small-fiber injury, neuroinflammation, and dysautonomia. Emerging reports suggest benefit from MC-directed treatments although responses remain variable. Understanding the role of MCs in PASC may offer a plausible mechanism of pathogenesis and guide targeted therapies. Future studies are needed to validate these findings and improve PASC patient outcomes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.

ERJ open research
2025

Unfolded proteins and aggregates: The role of proteostasis in pseudoexfoliation pathology.

Molecular vision
2026

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
2026

Atypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.

Cureus
2026

Design and Validation of a Hand Interossei Muscle Dynamometer (HIMDNA) for Finger Abduction and Adduction Strength Measurement.

Annals of biomedical engineering
2026

Ketogenic Diet and Exercise Improve Peripheral Neuropathy in a Mouse Model of Metabolic Syndrome.

Diabetes
2026

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications
2026

Impact of Cervical Radiculopathy on the Risk of Cubital Tunnel Syndrome Following Distal Humerus Fracture: A Retrospective Cohort Analysis of 165 Million Patients.

Hand (New York, N.Y.)
2026

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

Mitochondrion
2026

Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.

Frontiers in rehabilitation sciences
2026

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Journal of neurology
2026

Utility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.

Muscle &amp; nerve
2026

Development of a Foundational Neuromuscular Ultrasound Competency Assessment for Trainees.

Muscle &amp; nerve
2026

Case report: endolymphatic sac tumor masquerading as Meniere's disease.

International journal of surgery case reports
2026

Case Report: Anti-GT1a antibody-associated ocular flutter.

Frontiers in immunology
2026

Clinical, Metabolic, and Autoimmune Characteristics of Newly Diagnosed Young Filipino Adults with Diabetes Mellitus.

Acta medica Philippina
2026

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

Molecular genetics and metabolism
2026

Distinct cerebrospinal fluid profiles of astrocytic aquaporin-4 and GFAP in neuroinflammatory disorders.

Neurobiology of disease
2026

Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.

Diagnostics (Basel, Switzerland)
2026

The Correlation Between Smartphone Use and Compressive Ulnar Neuropathy at the Elbow: A Retrospective Study.

Journal of clinical medicine
2026

Nerve Ultrasound for the Diagnosis of Tarsal Tunnel Syndrome: Findings in 26 Clinically and Electrophysiologically Confirmed Feet.

Journal of clinical medicine
2026

Ultrasound imaging of the spinal accessory nerve in the neck.

Ultrasound (Leeds, England)
2026

Unveiling the hidden link: diabetes mellitus as a catalyst for orbital apex syndrome.

Frontiers in endocrinology
2026

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Journal of the peripheral nervous system : JPNS
2026

"The Cancer that Carried the Chalk"-NXP2+ Paraneoplastic Dermatomyositis Unleashing Calcinosis Cutis and Peripheral Neuropathy.

The Journal of the Association of Physicians of India
2026

Misdiagnosis of superior sulcus tumours: a scoping review.

Journal of thoracic disease
2026

Preoperative Electrophysiological Findings Predicting Surgical Outcomes in Tarsal Tunnel Syndrome.

Neurologia medico-chirurgica
2026

The development of inner ear gene therapy for DFNB9: From bench to bedside.

Hearing research
2026

Oxaliplatin-induced peripheral neuropathy: from pathogenesis to treatment.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
2026

An Unusual Musculoaponeurotic Slip of the Brachioradialis as a Potential Cause of Radial Nerve and Radial Recurrent Artery Compression.

Cureus
2026

The epidemiology of cubital tunnel syndrome: a UK Biobank case-control study.

The Journal of hand surgery, European volume
2026

Bannwarth Syndrome in a Patient With Early-Stage Breast Cancer: An Atypical Manifestation of Lyme Neuroborreliosis.

Cureus
2026

Clinical spectrum, predictive biomarkers, and prognostic implications of peripheral neuropathies in primary Sjögren's syndrome: a retrospective cohort study.

European journal of medical research
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

Incidence of Median and Ulnar Neuropathy Following Nonupper Extremity Surgery.

Journal of hand surgery global online
2026

Traumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.

Cureus
2026

Treatment of Glossopharyngeal Neuralgia: A Systematic Review.

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

Long COVID neuropathy: The role of mast cells.

Journal of neuropathology and experimental neurology
2026

Investigating Genetic Risk to Oxaliplatin-Induced Sinusoidal Obstruction Syndrome in Colorectal Cancer Through Routinely Available NGS Data.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2026

Safety and Efficacy of Low-Volume Plasma Exchange in the Management of COVID-19-Associated Guillain-Barré Syndrome: A Case Report.

Journal of clinical apheresis
2026

Frequency of Anti-Ganglioside Antibodies and Their Clinical Correlates in Guillain-Barré Syndrome: A Single-Centre Study in Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2026

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

Auris, nasus, larynx
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

Obesity and Metabolic Syndrome Predict Polyneuropathy Over 5 Years in Recent-Onset Type 2 Diabetes and Normal Glucose Tolerance.

Diabetes/metabolism research and reviews
2026

Darbepoetin therapy for anaemia and orthostatic presyncope and palpitations in a woman with beta-thalassemia minor and possible postural orthostatic tachycardia syndrome.

Obstetric medicine
2025

Comparison of surgical treatment for Carpal Tunnel Syndrome with corticosteroid injection and platelet-rich plasma injection.

Acta orthopaedica Belgica
2026

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

Journal of clinical neuromuscular disease
2026

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Mitochondrion
2026

Precise and efficient DNA base editing restores normal hearing in adult DFNB9 mouse model.

Med (New York, N.Y.)
2026

Ultrasound diagnosis of three different types of carpal tunnel syndrome associated with persistent median artery: A case report and literature review.

Medicine
2026

Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.

European journal of cancer (Oxford, England : 1990)
2026

A rare presentation of CASPR2-associated Morvan syndrome overlapping with GM1-positive AMSAN: a case report.

Frontiers in immunology
2026

Human Herpesvirus 6-Associated Miller-Fisher Syndrome in a 5-Year-Old Child: A Case-Based Narrative Review of Pediatric Cases with Infectious Triggers.

Viruses
2026

Unilateral and Reversible Hypoglossal Nerve Palsy in Infectious Mononucleosis Syndromes: Two Rare Cases from Our Clinic.

Viruses
2026

Ultrasound-Guided Percutaneous Needle Electrolysis Versus Surgery for Carpal Tunnel Syndrome: A Randomized Clinical Trial.

Healthcare (Basel, Switzerland)
2026

Ocular Symptoms as a Marker of Dysautonomia in Long-COVID Patients: A Cross-Sectional Analysis.

Brain sciences
2026

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.

Neurology international
2026

Burning Mouth Syndrome as a Central Pain Disorder: A Case Study Demonstrating Response to Occipital Nerve Block Treatment.

Dentistry journal
2026

Measurement properties of the Inflammatory Rasch-built Overall Disability Scale (I-RODS) in patients with Guillain-Barré syndrome.

Journal of neurology
2026

Overview of Best Practices and Complications in Hemodialysis Access.

Cardiology in review
2026

Analysis of the incidence status and risk factors for immune-mediated neuropathies: a single-center case-control study.

Frontiers in neurology
2026

Association of Inflammatory Proteins with Neuropathic Pain: A Two-Sample Bidirectional Mendelian Randomization.

Journal of pain research
2026

A transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.

Experimental &amp; molecular medicine
2026

Climatic and Geographic Variations of Antecedent Infections in Guillain-Barré Syndrome: A Long-Term Longitudinal Analysis From Bangladesh.

Journal of the peripheral nervous system : JPNS
2026

Structural and vascular retinal changes and visual outcomes after treatment of compressive anterior visual pathway lesions: A prospective longitudinal study.

Medicine
2026

A case of MEWDS like retinopathy associated with peripheral exudative haemorrhagic chorioretinopathy: Un caso de síndrome de múltiples puntos blancos evanescentes (SMPBE) secundario a coriorretinopatía hemorrágica exudativa periférica.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Among Patients Seeking Care for Carpal Tunnel Syndrome, Variation in Symptom Intensity Is Associated More With Variation in Mindsets Than Variation in Compressive Median Neuropathy Severity.

Hand (New York, N.Y.)
2026

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.

Frontiers in pediatrics
2026

Immunoglobulin Light Chain Amyloidosis: 2026 Update on Diagnosis, Prognosis, and Treatment.

American journal of hematology
2026

Ultra High-Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross-Sectional Study.

Muscle &amp; nerve
2026

Peripheral Nerve Ultrasound-guided Intervention: From the Basics to Sonosurgery.

Seminars in musculoskeletal radiology
2026

Prevalence and Risk of Carpal Tunnel Syndrome in Parkinson's Disease: A Systematic Review and Meta-Analysis.

Journal of functional morphology and kinesiology
2026

Rehabilitation challenges and progress in a patient with sensory ataxic Guillain-Barré syndrome: a case report.

Physiotherapy theory and practice
2026

A case report of arsenic-induced peripheral neuropathy misdiagnosed as Guillain-Barré syndrome.

Frontiers in toxicology
2025

The journey to diagnosis for patients with CIDP: results from a real-world international survey.

Frontiers in neurology
2026

A case report of neurosarcoidosis mimicking Guillain-Barré syndrome: the diagnostic utility of skin biopsy in neurosarcoidosis.

BMC neurology
2026

Charting Variant Vascular Pathways in Musculoskeletal Imaging: Clinical and Surgical Implications.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Long-Term Outcomes Associated With Posterior Fossa Syndrome in Survivors of Childhood Medulloblastoma.

JAMA network open
2026

Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.

Case reports in neurology
2026

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

JACC. CardioOncology
2026

Pediatric Conditions for Which Skin Biopsies of Clinically Normal Skin Have Diagnostic Yield: A Review for the Pediatric Dermatologist.

Pediatric dermatology
2026

Acute coronary syndrome and coronary artery disease in wild-type transthyretin amyloid cardiomyopathy: a DIAMOND sub-study.

Journal of cardiovascular medicine (Hagerstown, Md.)
2026

Evaluating nerve dysfunction in Behçet's disease: a study using corneal confocal microscopy and electromyography.

International ophthalmology
2026

Not So Normal Skin: A Review of the "Random" Skin Biopsy.

The American Journal of dermatopathology
2026

Disseminated Herpes Zoster Leading to Orbital Apex Syndrome: A Case of MRI-Negative Cranial Neuropathy.

Cureus
2026

Hidden overlap between heart failure with preserved ejection fraction and transthyretin amyloid cardiomyopathy: Why it matters and how to avoid missing it.

International journal of cardiology
2026

Iatrogenic suprascapular neuropathy secondary to drilling for superior labrum anterior-posterior repair: a case report.

Journal of ISAKOS : joint disorders &amp; orthopaedic sports medicine
2026

Pregabalin and atypical NSTEMI presentation in a diabetic woman (masked myocardial ischemia): A case report.

Medicine international
2026

Efgartigimod for Guillain-Barré syndrome: a retrospective analysis of efficacy and safety.

Therapeutic advances in neurological disorders
2026

Corneal neuropathy: An overlooked biomarker for dry eye in type 2 diabetes.

World journal of diabetes
2026

Double Crush Syndrome in Surgically-Treated Lumbosacral Radiculopathy: Prevalence, Risk Factors, and Clinical Implications.

Spine surgery and related research
2026

Patient- and disease-specific factors associated with atrophy of the intrinsic muscles of the ulnar nerve in cubital tunnel syndrome.

Journal of orthopaedics
2026

Correlation Between Ultrasound and Nerve Conduction Study Findings in Evaluating Carpal Tunnel Syndrome.

Cureus
2026

A Case of Ganglionopathy Presenting with Hyperkinetic Movements.

Tremor and other hyperkinetic movements (New York, N.Y.)
2025

Sympathetic signals beneath the surface: fresh insights from skin and muscle.

Frontiers in neuroscience
2026

POEMS syndrome with cardiovascular lesions as the initial manifestation: a case report and literature review.

Frontiers in cardiovascular medicine
2026

The nonhallucinogenic ketamine metabolite (2R,6R)-hydroxynorketamine is a novel analgesic in animal models of pain.

Frontiers in pain research (Lausanne, Switzerland)
2026

Exploring the Role of Nuclear Factor Kappa B in the Immunobiology of Inflammatory Neuropathies.

Annals of Indian Academy of Neurology
2026

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

Rinsho shinkeigaku = Clinical neurology
2026

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.

Journal of neurology
2026

Predicting the Presence of Compressive Conditions After Distal Radius Fractures.

Annals of plastic surgery
2026

Can patient-reported outcome measures predict mortality in neurological populations? A systematic review.

Frontiers in neurology
2025

Association between metabolic dysfunction-associated fatty liver disease and cardiovascular autonomic neuropathy in type 2 diabetes.

Frontiers in endocrinology
2026

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

International journal of molecular sciences
2026

Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.

International journal of molecular sciences
2026

Transthyretin Amyloid May Drive Fibrosis and Proliferation of Tenosynovial Fibroblasts in Carpal Tunnel Syndrome.

The Journal of bone and joint surgery. American volume
2026

Fusion of molecular mimicry, epigenetic predisposition, and new onset GBS: a narrative review of current understanding and future directions.

Annals of medicine and surgery (2012)
2026

Duolingo-induced seizures in GAD65 IgG associated autoimmune epilepsy.

Epilepsy &amp; behavior reports
2026

Synergistic Antitumor Activity and Neuroprotective Effects of FGF1/FGFR Inhibition with Oxaliplatin Chemotherapy.

Journal of advanced research
2026

Assessing systemic endothelial dysfunction in glaucoma subtypes and pseudoexfoliation using photoplethysmography-based flow mediated dilation.

International ophthalmology
2026

Screening Value of the I-Douleur Neuropathique 4 Questionnaire for Small Fibre Neuropathy in Patients With Painful Syndromes: Insights From 872 Skin Biopsies.

European journal of neurology
2026

Diphtheria Presenting With Cranial Neuropathy: The Patch Unseen.

Cureus
2026

When Pain Relief Backfires: Ramsay Hunt Syndrome after Intra-articular Steroid Injection - A Rare Complication with 6-month Follow-up.

Journal of orthopaedic case reports
2026

A simplified algorithm for management of CP/CPPS and associated entities: A summary table for general urologists.

Current urology
2026

Optimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi-Center Retrospective Study.

Head &amp; neck
2026

Nerve Hydrodissection as Treatment for Entrapment Neuropathies: A Literature Review.

Cureus
2026

Subacute High-Grade Ulnar Neuropathy Without Trauma: A Case of Cubital Tunnel Syndrome.

Cureus
2026

Analysis of the CTS-6 Questionnaire and Development of a Carpal Tunnel Syndrome Decision Tree.

Journal of hand surgery global online
2026

Prevalence and Patterns of Cranial Nerve Involvement in CIDP, Autoimmune Nodopathy, MMN, and Anti-MAG Neuropathy: A Multicenter Korea/UK Study of 582 Patients.

European journal of neurology
2026

Dynamics of Nerve Conduction Studies in Patients With Guillain-Barré Syndrome.

Muscle &amp; nerve
2026

Successful Treatment of Multifocal Demyelinating Sensory-Motor Neuropathy (Lewis-Sumner Syndrome) With Rituximab: A Case Report.

The American journal of case reports
2026

Prediction of Relapse and Glucocorticoid Dependence in Eosinophilic Granulomatosis With Polyangiitis: Findings From a Large European Cohort.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2026

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

The Journal of hand surgery, European volume
2026

Readability, Accuracy, and Lexical Diversity of New ChatGPT Models for Common Carpal Tunnel Syndrome Questions.

Hand (New York, N.Y.)
2026

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Muscle &amp; nerve
2026

Roc-based validation of palmar sensory latency in Carpal tunnel syndrome diagnosis.

Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology
2026

Clinical and Electrophysiological Spectrum of Guillain-Barré Syndrome in Syria: A Prospective Cohort Study Highlighting Atypical Presentations.

Neuroepidemiology
2026

Short-term effectiveness of 5% dextrose injection with ultrasound-guided nerve hydrodissection method in carpal tunnel syndrome: A randomized controlled study.

Journal of back and musculoskeletal rehabilitation
2026

Two Frontlines, One Diagnosis: Family Medicine-Neurology Collaboration Enables Early Recognition and Treatment of Acute Inflammatory Demyelinating Polyneuropathy in a Diabetic Patient.

Cureus
2026

Anterior Ischemic Optic Neuropathy Associated with Acute Severe Anemia Due to Myelodysplastic Syndrome (MDS): A Case Report.

Neuro-ophthalmology (Aeolus Press)
2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Neuro-ophthalmology (Aeolus Press)
2026

The Role of Ultrasound across the Continuum of Care for Carpal Tunnel Syndrome.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2026

Traumatic Orbital Apex Syndrome With Acute Orbital Compartment Syndrome Secondary to Facial Fractures: A Case Report.

Cureus
2026

Neurologic Complications of Cancer and Its Treatment.

Continuum (Minneapolis, Minn.)
2026

Neurologic Manifestations of Hepatic and Gastrointestinal Disease.

Continuum (Minneapolis, Minn.)
2026

Neurologic Complications of Endocrine Disorders.

Continuum (Minneapolis, Minn.)
2026

Neurologic Complications of Hematologic Disorders.

Continuum (Minneapolis, Minn.)
2026

Perineural Lipoma of the Ulnar Nerve Within the Cubital Tunnel: A Brief Review of the Literature.

Journal of hand surgery global online
2026

Effect of antifungal triazoles on vinca alkaloid neurotoxicity in pediatric patients: A retrospective case series analysis and literature review.

Medicine
2026

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

BMJ case reports
2026

The Accuracy of Artificial Intelligence Models in Carpal Tunnel Diagnosis: A Systematic Review and Meta-analysis.

Plastic and reconstructive surgery
2026

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

Pain physician
2025

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

Frontiers in neurology
2025

West Nile Virus as a Trigger for Acute Inflammatory Demyelinating Polyneuropathy: Exploring Intravenous Immunoglobulin (IVIG) Efficacy and Disease Variability.

Cureus
2026

Current Surgical Trends in Carpal Tunnel Syndrome.

Archives of plastic surgery
2026

Challenges in managing prolonged intensive care unit stay for Guillain-Barré syndrome-acute motor axonal neuropathy variant.

SAGE open medical case reports
2026

Insulin resistance in type 1 diabetes: the silent burden unmasked by eGDR.

Acta diabetologica
2026

POEMS syndrome: a neuromuscular perspective.

Journal of neurology, neurosurgery, and psychiatry
2026

Benefits and challenges in everyday life for patients performing subcutaneous immunoglobulin treatment at home: a qualitative interview study.

BMJ open
2026

Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.

Nucleic acids research
2025

Jugular Paraganglioma Presenting As Isolated Hypoglossal Nerve Palsy: An Anatomical Enigma.

Cureus
2025

Not All Ascending Weakness and Numbness Is Guillain-Barré Syndrome: A Report of Two Cases of Copper Deficiency Myelopathy.

Cureus
2026

20/20 to NLP due to Blowing the Nose and Orbital Emphysema: A Case Report.

Case reports in ophthalmology
2025

Autonomic small fiber involvement in painful long COVID: a histological and clinical study.

Frontiers in human neuroscience
2026

Prevalence of Carpal Tunnel Syndrome in Pregnancy and Associated Risk Factors at Ras Al Khaimah, United Arab Emirates.

Annals of African medicine
2026

A Case of Amyloid Arthritis With Increased Amyloid Deposition of Both β2-Microglobulin and Transthyretin Before Reinitiating Dialysis Long After Kidney Transplantation.

Nephrology (Carlton, Vic.)
2026

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

Journal of ethnopharmacology
2026

A Complex Case of Refractory Exertional Compartment Syndrome With Fibular Neuropathy in an Athlete.

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine
2026

Clinical Features of Systemic Amyloidosis: A Scoping Review.

Blood advances
2026

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

European journal of neurology
2025

A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice.

Frontiers in neurology
2026

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

Sensors (Basel, Switzerland)
2026

Anti-GQ1b Antibody Syndrome: A Clinician-Oriented Perspective on Diagnostics, Therapy, and Atypical Phenotypes-With an Illustrative 16-Case Institutional Series.

Journal of clinical medicine
2026

Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Clinical Gradation and Current Therapeutic Strategies.

Journal of clinical medicine
2026

The Spectrum of Motor Disorders in Patients with Chronic Kidney Disease: Pathogenic Mechanisms, Clinical Manifestations, and Therapeutic Strategies.

Journal of clinical medicine
2026

Correlation Between Endocrine and Other Clinical Factors with Peripapillary Retinal Nerve Fiber Layer Thickness After Surgical Treatment of Pediatric Craniopharyngioma.

Biomedicines
2026

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Genes
2026

Thickening of Dorsal Foot Nerves: A Frequent Sonographic Finding in Asymptomatic Volunteers, Potentially Leading to False Positive Results.

Diagnostics (Basel, Switzerland)
2026

RFC1 Repeat Expansion in Chronic Cough: Findings From the Korean Chronic Cough Registry.

Allergy, asthma &amp; immunology research
2025

Adult Botulism of Unknown Source with Post-Toxin Anti-GQ1b Antibodies: Implications for Molecular Mimicry-A Case Report.

Neurology international
2026

End-to-side anterior interosseous nerve transfer augmentation of ulnar nerve function in moderate and severe cubital tunnel syndrome; a randomised controlled trial protocol.

BMC surgery
2026

Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.

BMC neurology
2026

GLP-1 Receptor Agonists and Risk of Optic Nerve or Vision-Threatening Events in Patients With Type 2 Diabetes or Cardiometabolic Diseases: A Meta-analysis of Randomized Controlled Trials.

Diabetes care
2026

Risk of Psychiatric Disorders Following Carpal Tunnel Syndrome: A Nationwide Cohort Study.

Psychiatry investigation
2025

Plasma exchange following immunoglobulins for Guillain-Barré-Syndrome: a persisting problematic practice?

Frontiers in neurology
2026

Effects of ovariectomy of rat on tongue neuropathy: Relevance to burning mouth syndrome.

Journal of dental sciences
2025

Optimal nerve release range and transposition distance in anterior ulnar nerve transposition for cubital tunnel syndrome: an anatomical study.

JSES international
2026

Risk of new-onset glaucoma in people with carpal tunnel syndrome: a global-federated, multicenter retrospective cohort study.

International journal of medical sciences
2026

Pachymeningeal Involvement in POEMS Syndrome: Longitudinal Follow-Up Study and Correlation With Therapeutic Response.

Journal of the peripheral nervous system : JPNS
2026

Nerve Conduction Studies in Carpal Tunnel Syndrome: Application of Quantitative Methods of Decision Making.

Annals of plastic surgery
2026

Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.

PloS one
2025

Case Report: Guillain-Barré syndrome temporally associated with levofloxacin exposure and improvement following efgartigimod treatment.

Frontiers in immunology
2025

Minimally invasive tubular retractor implantation of a paddle electrode stimulator for the trigeminal nucleus caudalis: illustrative case.

Journal of neurosurgery. Case lessons
2026

Patterns of Seasonality and Subtype-Linked Outcomes of Pediatric Guillain-Barré Syndrome ICU Admissions: A 10-Year Audit from Southern India.

Indian pediatrics
2026

Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report.

Case reports in ophthalmology
2026

Reverse End-to-Side Abductor Digiti Minimi-to-Recurrent Motor Branch Nerve Transfer for Severe Carpal Tunnel Syndrome: Report of Three Cases.

Microsurgery
2026

Restless Legs Syndrome: A Review.

JAMA
2026

Evolution of Carpal Tunnel Syndrome Treatment: A Narrative Review.

NeuroSci
2025

Case Report: POEMS syndrome secondary to multiple solitary plasmacytomas complicated by hypertriglyceridemia.

Frontiers in medicine
2026

Neurological Complications Associated With COVID-19 Compared to Other Viral Infections: A Systematic Review of Current Evidence.

Cureus
2025

Pharmacovigilance study on neurological adverse reactions of proteasome inhibitors in the FDA adverse event reporting system.

Frontiers in pharmacology
2026

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.

American journal of medical genetics. Part A
2026

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine
2026

Clinical characteristics of peripheral neuropathy and risk factors in rheumatoid arthritis patients: A retrospective study.

Medicine
2026

Crocodile tear syndrome: to eat and cry for more.

Practical neurology
2026

Impact of Diabetic Peripheral Neuropathy on Corneal Sensitivity and Ocular Surface.

Ophthalmic research
2026

High prevalence of treatable transthyretin cardiac amyloidosis in cardioembolic stroke: the first systematic cohort study.

Journal of neurology
2026

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.

Lancet regional health. Americas

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de leucoencefalopatia-distonia-neuropatia motora.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de leucoencefalopatia-distonia-neuropatia motora

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
    Nature communications· 2026· PMID 41857046mais citado
  2. Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.
    Frontiers in rehabilitation sciences· 2026· PMID 41847568mais citado
  3. Targeted neurological screening for RFC1-related disease in unexplained chronic cough.
    Journal of neurology· 2026· PMID 41840142mais citado
  4. 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· PMID 41799889mais citado
  5. Long COVID neuropathy: The role of mast cells.
    Journal of neuropathology and experimental neurology· 2026· PMID 41790576mais citado
  6. Unveiling the hidden link: diabetes mellitus as a catalyst for orbital apex syndrome.
    Front Endocrinol (Lausanne)· 2026· PMID 41821730recente
  7. Long-Term Outcomes Associated With Posterior Fossa Syndrome in Survivors of Childhood Medulloblastoma.
    JAMA Netw Open· 2026· PMID 41712211recente
  8. Pediatric Giant-Cell Tumor of Bone With Secondary Aneurysmal Bone Cyst Causing Orbital Apex Syndrome.
    J Pediatr Ophthalmol Strabismus· 2025· PMID 41359430recente
  9. Idiopathic First Bite Syndrome Associated With Diabetic Autonomic Neuropathy.
    J Oral Maxillofac Surg· 2026· PMID 41265846recente
  10. Management of Haws Syndrome in Cats With Gastrointestinal Diet: A Case Series.
    Vet Ophthalmol· 2026· PMID 41152147recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:163684(Orphanet)
  2. OMIM OMIM:613724(OMIM)
  3. MONDO:0013391(MONDO)
  4. Distonia e Espasticidade(PCDT · Ministério da Saúde)
  5. GARD:12471(GARD (NIH))
  6. Variantes catalogadas(ClinVar)
  7. Busca completa no PubMed(PubMed)
  8. Q55345838(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

Compêndio · Raras BR

Síndrome de leucoencefalopatia-distonia-neuropatia motora

ORPHA:163684 · MONDO:0013391
🇧🇷 Brasil SUS
Internações
890/ano
Prevalência BR
1:60000
Custo SUS
R$ 45.670/internação
Dados
DATASUS 2024
Geral
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
E75.2 · Outras esfingolipidoses
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3150990
Repurposing
1 candidato
procyclidineacetylcholine receptor antagonist
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades