Raras
Buscar doenças, sintomas, genes...
Neuropatia idiopática de pequenas fibras
ORPHA:658549CID-10 · G90.0DOENÇA RARA

A neuromiotonia, também conhecida como síndrome de Isaacs, é uma síndrome de hiperexcitabilidade dos nervos periféricos (HPN) que se apresenta como atividade motora contínua. Os achados clínicos incluem cãibras, fasciculações e mioquimia. O eletrodiagnóstico desempenha um papel fundamental no diagnóstico, demonstrando pós-descargas nos estudos de condução nervosa e potenciais de fasciculação, descargas mioquímicas, descargas neuromiotónicas e outros tipos de atividade espontânea anormal no exame com agulha. A etiopatogenia envolve a interação de factores genéticos, auto-imunes e paraneoplásicos, o que exige uma avaliação abrangente das causas subjacentes. O tratamento inicial é sintomático, mas a imunoterapia é frequentemente necessária e pode ser eficaz.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Neuropatia idiopática de pequenas fibras causa dor, dormência e alterações autonômicas (xerostomia, dismotilidade GI, bexiga). Afeta a pele (frieza, hipopigmentação) e a tolerância à glicose.

🏥
SUS: Cobertura mínimaScore: 20%
Triagem neonatal (Fase 5)CID-10: G90.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

Partes do corpo afetadas

🫃
Digestivo
3 sintomas
🧬
Pele e cabelo
1 sintomas
🫘
Rins
1 sintomas
🧠
Neurológico
1 sintomas
💪
Músculos
1 sintomas
👁️
Olhos
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

100%prev.
Neuropatia sensorial
55%prev.
Xerostomia
Frequente (79-30%)
55%prev.
Tolerância à glicose prejudicada
Frequente (79-30%)
55%prev.
Hipoestesia
Frequente (79-30%)
55%prev.
Hipopigmentação da pele
Frequente (79-30%)
55%prev.
Rubor
Frequente (79-30%)
22sintomas
Muito frequente (1)
Frequente (9)
Ocasional (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.

Neuropatia sensorialSensory neuropathy
Muito frequente100%
Xerostomia
Frequente (79-30%)55%
Tolerância à glicose prejudicadaImpaired glucose tolerance
Frequente (79-30%)55%
HipoestesiaHypoesthesia
Frequente (79-30%)55%
Hipopigmentação da peleHypopigmentation of the skin
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos135publicações
Pico202122 papers
Linha do tempo
20202015Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 — Neuropatia idiopática de pequenas fibras

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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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Immunotherapy considerations for distal sensory-predominant and small-fiber peripheral neuropathies.

Handbook of clinical neurology2026

Increasing knowledge about the common widespread, distal-predominant polyneuropathies is shifting the standard of care beyond merely palliating symptom toward intervention. This is less advanced for the more prevalent but harder-to-ascertain distal sensory polyneuropathies (DSP) than for motor and demyelinating neuropathies. DSP comprises the sensory-predominant large-fiber axonal/demyelinating neuropathies plus the small-fiber sensory/autonomic axonopathies. Small-fiber disturbances can cause premature fatigue, neuropathic pain and itch, postural orthostasis tachycardia, and gastrointestinal distress. Diagnosis is difficult - screening for classic causes is mandatory but unproductive in a third to a half of patients (initially idiopathic DSP/iiDSP). Multiple large case series and two small passive-transfer studies suggest that autoimmunity may be a prevalent cause of iiDSP, particularly for small-fiber neuropathy. So, despite the knowledge gaps, immunotherapies effective for other neuropathies are increasingly considered for dysimmune iiDSP; particularly in otherwise healthy young patients with impaired life trajectories. To inform these difficult treatment decisions, this chapter summarizes diagnostic requirements for large- and small-fiber iiDSP and evaluates the type and strength of the evidence suggesting autoimmune causality in some. Concomitant rheumatologic conditions including often undiagnosed Sjögren's syndrome, predispose. Youth, abrupt onset, other organ dysimmunity, immune seromarkers, and prior responses to immunotherapy can provide additional evidence, but autoantibody panels are almost never useful. Uncontrolled studies suggest that apparently autoimmune DSP sometimes responds to corticosteroids, intravenous immunoglobulins, and plasmapheresis. However, these cannot be prescribed indiscriminately due to risk, cost/availability, and lack of controlled trials and guidelines. Enough preliminary data may have accrued to permit formulating initial consensus recommendations for selecting the subsets of patients in whom immunotherapy should or should not be considered. Patients, clinicians, and payors would benefit immediately, and highlighting priorities for research could promote long-term advances.

#2

Management of Small Fiber Neuropathy: A Clinical Perspective.

Muscle & nerve2026 Mar

Small fiber neuropathy (SFN) is a common neurological diagnosis with a multitude of symptoms, including dysautonomia symptoms (e.g., orthostatic dizziness) as well as sensory disturbances, such as a tingling sensation or burning pain. The disease can be due to metabolic, autoimmune, or hereditary factors, and treatment plans stem from SFN etiology. Diabetes, autoimmune disease, infection, vitamin deficiencies, post-vaccination syndromes can all cause SFN. Needle electromyography and nerve conduction studies can be performed to exclude other neuromuscular conditions by ruling out large fiber neuropathies. The gold standard of diagnosis for SFN remains an abnormal skin biopsy. For non-idiopathic cases, treatment of underlying causes, including metabolic, nutritional, infectious, autoimmune, or toxin-related, is critical for symptom improvement. Most treatment options for idiopathic SFN are geared toward symptom management for neuropathic pain and paresthesia and include antiepileptics, antidepressants, and topical ointments. First-line medications include amitriptyline, nortriptyline, gabapentin, and pregabalin. Second-line treatments can include serotonin-norepinephrine reuptake inhibitors and selective serotonin reuptake inhibitors such as duloxetine and venlafaxine, as well as lidocaine patches and capsaicin.

#3

Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.

BMC neurology2025 Oct 17

With the present case we suggest that idiopathic large-fiber polyneuropathy with autonomic failure, pathological cardiac [123I]Metaiodobenzylguanidine (MIBG) scintigraphy and α-synuclein positivity in cutaneous autonomic nerves is a prodromal manifestation of body-first Lewy body disease (LBD).Case Presentation: A previously healthy 74-year-old man presented with painful polyneuropathy and orthostatic intolerance. Phenotypic characterization demonstrated small- and large-fiber sensory-motor-autonomic polyneuropathy, cardiac sympathetic denervation and cardiovagal and cardiovascular adrenergic dysfunction. Despite thorough examination and exclusion of diabetes, primary- and hereditary transthyretin amyloidosis, no underlying cause was found. Interestingly, LBD was suspected due to abnormal cardiac MIBG scintigraphy, constipation, hyposmia, REM sleep behavior disorder (RBD), and mild cognitive impairment. Seed amplification assay (SAA) for pathological α-synuclein was positive in a skin biopsy (neck) with deposits localized in the autonomic nerves based on immunohistochemistry. He was clinically diagnosed with mild dementia with Alzheimer's Disease (AD) pathology. However, given the presence of severe autonomic dysfunction, RBD, pathological α-synuclein in addition to AD pathology, dual pathology with Lewy bodies (representing a body-first LBD) should be considered. Conclusion: This case highlights the importance of evaluating patients with idiopathic large-fiber polyneuropathy with autonomic failure for underlying LBD. We propose that both neuropathy and cardiac denervation may stem from the widespread peripheral neurodegeneration associated with pre-motor body-first LBD, although there is no direct evidence of causality. In this case, with idiopathic small- and large-fiber sensory-motor-autonomic neuropathy and abnormal MIBG scintigraphy, detection of α-synuclein in cutaneous autonomic nerves, supports our proposal. Thus, we suggest idiopathic polyneuropathy with autonomic failure to represent a non-motor prodromal manifestations in LBD.

#4

Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.

Journal of neurology2025 Jun 07

Immune reactivity to gluten in the development of peripheral neuropathies and cerebellar ataxia has been suggested for decades, but evidence is scarce. The aim of the current study was to test the prevalence of tissue transglutaminase 2 (anti-TG2), tissue transglutaminase 6 (anti-TG6), and gliadin antibodies (anti-gliadin) in a large cross-sectional study. The sera of patients with idiopathic cerebellar ataxia, idiopathic small fibre neuropathy (SFN) and chronic idiopathic axonal polyneuropathy (CIAP), and controls with a comparable age distribution and men/women ratio were collected. The sera were analysed for anti-gliadin IgA/IgG (manufacturer's and lower cut-off), anti-TG2 IgA and anti-TG6 IgA/IgG. In total, 683 samples were analysed: 476 patients (249 SFN, 161 CIAP and 66 idiopathic cerebellar ataxia) and 195 controls. There were no differences between disease and control group in the prevalence of elevated anti-TG6, anti-TG2 and anti-gliadin using the manufacturer's cut-off. Using a lower cut-off of 3 U/mL, previously used by others for gluten-related neurological disorders, anti-gliadin IgA was positive in 20.8% patients vs 12.8% controls (p = 0.017) and anti-gliadin IgG in 7.6% vs 2.6% (p = 0.013), respectively. In subgroup analyses, significant differences were only observed in SFN for anti-gliadin IgA and in idiopathic cerebellar ataxia for anti-gliadin IgG using this lower cut-off after adjusting for sex and age. In conclusion, no difference in anti-TG2, anti-TG6 and anti-gliadin levels were observed between patients and controls. Only when using the lower cut-off (3 U/mL), the patients with SFN and idiopathic cerebellar ataxia were more often positive for anti-gliadin than controls. Whether these low-titre antibodies are gluten related, have any pathophysiological relevance, or reflect an epiphenomenon of neurodegeneration or gut inflammation is unknown.

#5

Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond.

Current opinion in neurology2025 Oct 01

Chronic idiopathic axonal neuropathy (CIAP) remains a diagnostic challenge, with many cases historically classified as idiopathic due to the absence of identifiable genetic, metabolic, or immune-mediated causes. This review examines recent advancements in understanding CIAP, focusing on novel genetic mutations, autoantibodies, and metabolic pathways that challenge the "idiopathic" designation. Specifically, we highlight sorbitol dehydrogenase (SORD) deficiency and replication factor C subunit 1 (RFC1) repeat expansions, and comment on the controversy surrounding autoantibody-associated small fiber neuropathy (SFN). Biallelic SORD mutations have emerged as a leading cause of recessive axonal neuropathy, linked to sorbitol accumulation and neurotoxicity, with aldose reductase inhibitors (ARIs) being explored as a potential therapy. RFC1 intronic repeat expansions have been identified as a major genetic contributor to CANVAS and sensory neuropathies, reshaping diagnostic approaches for patients previously classified as idiopathic. Additionally, the identification of autoantibodies such as trisulfated heparin disaccharide (TS-HDS), fibroblast growth factor receptor 3 (FGFR-3), and Plexin D1 in SFN suggests an immune-mediated pathology in a subset of patients but a negative randomized trial of IVIG and lack of specificity of TS-HDS IgM antibody testing questions the relevance of these presumed autoantibodies. Advances in genetics, immunology, and metabolic neuropathies are redefining CIAP. The identification of SORD deficiency, RFC1 expansions, and autoantibody-associated SFN highlights the need for biomarker-driven approaches and targeted therapies. Future research should focus on expanding genetic screening, optimizing immunotherapy strategies, and investigating novel metabolic contributors to CIAP, ultimately moving toward precise, mechanism-based diagnoses.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 128

2026

Immunotherapy considerations for distal sensory-predominant and small-fiber peripheral neuropathies.

Handbook of clinical neurology
2025

Genetically predicted the causal relationship between gut-brain axis and chronic pain: a Mendelian randomization study.

Human genomics
2025

Blood 1-Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy.

Journal of the peripheral nervous system : JPNS
2026

Management of Small Fiber Neuropathy: A Clinical Perspective.

Muscle & nerve
2025

Diffusion Tensor Imaging Reveals Altered Centrality of Pain-Related Regions in SCN9A-Associated Small Fiber Neuropathy.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.

BMC neurology
2025

Interferon-induced GTP-binding protein MX1 drives hyperexcitability in peripheral nerves: a novel mechanism in small fiber neuropathy.

Journal of neuroinflammation
2025

Identifying Predictors of Idiopathic Small-Fiber Neuropathy in Adolescent Patients With Chronic Pain.

Journal of the peripheral nervous system : JPNS
2025

In Vivo Confocal Microscopy of the Cornea in Diagnosing Small Fibre Neuropathy: A Cross-Sectional Observational Study.

Diagnostics (Basel, Switzerland)
2025

Immunoglobulin Therapy in Patients with Painful Small Fiber Neuropathy: A Systematic Review.

Current reviews in clinical and experimental pharmacology
2025

Harlequin syndrome: using clinical features and autonomic testing to unmask the disorder.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2024

Efficacy of High-Frequency Spinal Cord Stimulation in Idiopathic Asymmetrical Small-Fiber Neuropathy Case Report.

Pain medicine case reports
2025

Reduced functional resting-state connectivity in chronic pain patients with small fiber neuropathy.

The journal of pain
2025

Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.

Journal of neurology
2025

Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond.

Current opinion in neurology
2025

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type.

Annals of clinical and translational neurology
2025

Uncovering a Windsock Aneurysm of the Interventricular Septum: An Incidental Structural Abnormality.

Methodist DeBakey cardiovascular journal
2025

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy.

medRxiv : the preprint server for health sciences
2025

Intravenous immunoglobulin therapy in erythromelalgia management: a case report.

Einstein (Sao Paulo, Brazil)
2025

Small-Fiber Neuropathy: An Etiology-Oriented Review.

Brain sciences
2025

Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies.

Journal of clinical medicine
2024

The Experience Sampling Method in Small Fiber Neuropathy: The Influence of Psychosocial Factors on Pain Intensity and Physical Activity.

Journal of pain research
2024

Biopsychosocial rehabilitation therapy in small fiber neuropathy: research protocol to study the effect of rehabilitation treatment.

Frontiers in neurology
2024

Small-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies.

Journal of clinical neuromuscular disease
2024

Scleritis and episcleritis in patients with idiopathic small fiber neuropathy.

American journal of ophthalmology case reports
2024

Small Fiber Neuropathy in Burning Mouth Syndrome: A Systematic Review.

International journal of molecular sciences
2024

Correlation Between Orofacial Pain and Sensory and Autonomic Neuropathies.

Journal of pain research
2024

Small Fiber Neuropathy in Veterans With Gulf War Illness.

Federal practitioner : for the health care professionals of the VA, DoD, and PHS
2025

Are Peripapillary Hyperreflective Ovoid Mass-like Structures with an Elevated Optic Disc Still a Diagnosis Dilemma?

Ophthalmology
2024

Idiopathic Distal Sensory Polyneuropathy and Fibromyalgia Syndrome: A Comparative Phenotyping Study.

Pain and therapy
2024

Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.

European journal of neurology
2025

Painful stimulation increases functional connectivity between supplementary motor area and thalamus in patients with small fibre neuropathy.

European journal of pain (London, England)
2024

Automated immunohistochemistry of intra-epidermal nerve fibres in skin biopsies: A proof-of-concept study.

Journal of the peripheral nervous system : JPNS
2024

Diagnosing Peripheral Neuropathy in Patients With Alcohol Use Disorder.

Mayo Clinic proceedings
2024

Differences in corneal nerve fiber density and fiber length in patients with painful chronic idiopathic axonal polyneuropathy and diabetic polyneuropathy.

Muscle & nerve
2024

Relapsing-Remitting Immunotherapy Responsive Small-Fiber Neuropathy: Longitudinal Tracking Through 10 Years Including Pregnancies.

Neurology(R) neuroimmunology & neuroinflammation
2024

The role of antibodies in small fiber neuropathy: a review of currently available evidence.

Reviews in the neurosciences
2024

Age-dependent small fiber neuropathy: Mechanistic insights from animal models.

Experimental neurology
2025

[Sequence variants of unknown significance in small fiber neuropathy : Characterization of a heterogeneous patient population].

Schmerz (Berlin, Germany)
2024

Paraneoplastic neuropathies and peripheral nerve hyperexcitability disorders.

Handbook of clinical neurology
2024

Mast Cell Activation Syndrome and Gut Dysfunction: Diagnosis and Management.

Current gastroenterology reports
2024

Peripheral Pain Captured Centrally: Altered Brain Morphology on MRI in Small Fiber Neuropathy Patients With and Without an SCN9A Gene Variant.

The journal of pain
2023

A role for pathogenic autoantibodies in small fiber neuropathy?

Frontiers in molecular neuroscience
2023

Myelin barrier breakdown, mechanical hypersensitivity, and painfulness in polyneuropathy with claudin-12 deficiency.

Neurobiology of disease
2023

Updated consensus statement: Intravenous immunoglobulin in the treatment of neuromuscular disorders report of the AANEM ad hoc committee.

Muscle & nerve
2023

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

International journal of molecular sciences
2023

Efficacy and safety of vixotrigine in idiopathic or diabetes-associated painful small fibre neuropathy (CONVEY): a phase 2 placebo-controlled enriched-enrolment randomised withdrawal study.

EClinicalMedicine
2023

Ayurvedic management of idiopathic small fibre neuropathy- A case report.

Journal of Ayurveda and integrative medicine
2023

Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers.

Journal of neurology
2023

Advances in diagnosis and management of distal sensory polyneuropathies.

Journal of neurology, neurosurgery, and psychiatry
2022

Prevalence and Risk Factors of Peripheral Neuropathy in Parkinson's Disease.

Annals of Indian Academy of Neurology
2023

Mechanisms behind diffuse idiopathic peripheral neuropathy in humans - a systematic review.

Scandinavian journal of gastroenterology
2023

Functional and structural markers of peripheral microvascular autonomic neuropathy.

Muscle & nerve
2023

Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond.

Muscle & nerve
2022

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.

International journal of molecular sciences
2022

Living with small fiber neuropathy: insights from qualitative focus group interviews.

The Journal of international medical research
2023

Clinical and paraclinical features of small fiber neuropathy in Sjögren's syndrome.

Journal of neurology
2022

Reader Response: Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small-Fiber Neuropathy.

Neurology
2022

Immune-Mediated Small Fiber Neuropathy With Trisulfated Heparin Disaccharide, Fibroblast Growth Factor Receptor 3, or Plexin D1 Antibodies: Presentation and Treatment With Intravenous Immunoglobulin.

Journal of clinical neuromuscular disease
2022

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2022

Comparison of diabetic and idiopathic sensory polyneuropathies with respect to nerve fibre affection and risk factors.

BMJ neurology open
2022

Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration.

Pain
2022

Follow-up Author Response: Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy.

Neurology
2022

Follow-up Reader Response: Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy.

Neurology
2021

The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity.

Frontiers in pharmacology
2022

Novel Autoantibodies in Idiopathic Small Fiber Neuropathy.

Annals of neurology
2021

Small Fiber Neuropathy Incidence, Prevalence, Longitudinal Impairments, and Disability.

Neurology
2021

Reader Response: Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy.

Neurology
2022

Mast cell disorders are associated with decreased cerebral blood flow and small fiber neuropathy.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
2022

Non-length-dependent small fiber neuropathy: Not a matter of stockings and gloves.

Muscle & nerve
2021

A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.

Journal of neurophysiology
2021

Small fiber neuropathy: Swiss cohort characterization.

Muscle & nerve
2021

Immune-Mediated Disease Flares or New-Onset Disease in 27 Subjects Following mRNA/DNA SARS-CoV-2 Vaccination.

Vaccines
2021

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.

Journal of neurology
2021

[Small fiber neuropathy in systemic autoimmune diseases].

Revue medicale suisse
2021

Association between restless legs syndrome and peripheral neuropathy: A systematic review and meta-analysis.

European journal of neurology
2021

Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy.

Neurology
2021

Sympathetic and sensory nerve fiber function in multiple system atrophy and idiopathic Parkinson's disease.

Journal of neurology
2021

Peripheral synucleinopathy in Parkinson disease with LRRK2 G2385R variants.

Annals of clinical and translational neurology
2021

Two independent mouse lines carrying the Nav1.7 I228M gain-of-function variant display dorsal root ganglion neuron hyperexcitability but a minimal pain phenotype.

Pain
2020

Idiopathic distal sensory polyneuropathy: ACTTION diagnostic criteria.

Neurology
2021

Diagnostic criteria for idiopathic small fiber neuropathy: A systematic review.

Muscle & nerve
2020

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

PloS one
2021

Epidermal Neurite Density in Skin Biopsies From Patients With Juvenile Fibromyalgia.

The Journal of rheumatology
2021

Postoperative management and rehabilitation after the supercharged end-to-side anterior interosseous nerve to ulnar motor nerve transfer: A report of 3 cases.

Journal of hand therapy : official journal of the American Society of Hand Therapists
2020

Small Fiber Neuropathy: Clinicopathological Correlations.

Behavioural neurology
2020

Evidence for Dietary Agmatine Sulfate Effectiveness in Neuropathies Associated with Painful Small Fiber Neuropathy. A Pilot Open-Label Consecutive Case Series Study.

Nutrients
2020

Small fiber neuropathy in Sjögren syndrome: Comparison with other small fiber neuropathies.

Muscle & nerve
2020

Small fiber neuropathy in unexpected clinical settings: a review.

Muscle & nerve
2021

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.

Journal of neurology
2020

The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.

Journal of neurophysiology
2020

Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.

Journal of neurology, neurosurgery, and psychiatry
2020

Cryptogenic small-fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor-3.

Muscle & nerve
2019

Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review.

JAMA neurology
2019

Small fiber neuropathy in coeliac disease and gluten sensitivity.

Postgraduate medicine
2019

Diagnosis and management of sensory polyneuropathy.

BMJ (Clinical research ed.)
2019

Corneal Confocal Microscopy Detects Small-Fiber Neuropathy in Burning Mouth Syndrome: A Cross-Sectional Study.

Journal of oral & facial pain and headache
2019

The Clinical Features of Painful Small-Fiber Neuropathy Suggesting an Origin Linked to Primary Sjögren's Syndrome.

Pain practice : the official journal of World Institute of Pain
2018

The link between idiopathic intracranial hypertension, fibromyalgia, and chronic fatigue syndrome: exploration of a shared pathophysiology.

Journal of pain research
2018

Office approach to small fiber neuropathy.

Cleveland Clinic journal of medicine
2019

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.

Muscle & nerve
2018

Peripheral neuropathic pain in idiopathic Parkinson's disease: Prevalence and impact on quality of life; a case controlled study.

Journal of the neurological sciences
2018

Nerve and skin biopsy in neuropathies.

Current opinion in neurology
2018

Sensory neuropathic symptoms in idiopathic Parkinson's disease: prevalence and impact on quality of life.

Acta neurologica Belgica
2018

Long-Time Course of Idiopathic Small Fiber Neuropathy.

European neurology
2017

Sensory Polyneuropathies.

Continuum (Minneapolis, Minn.)
2017

Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series.

Journal of clinical neuromuscular disease
2017

A Unique Case for Spinal Cord Stimulation: Successful Treatment of Small Fiber Neuropathy Pain Using Multiple Spinal Cord Stimulators.

Case reports in medicine
2017

Loss of cutaneous large and small fibers in naive and l-dopa-treated PD patients.

Neurology
2017

Clinical Characteristics, Electrophysiology, and Skin Biopsy of 38 Peripheral Neuropathy Cases with Small Fiber Involvement of Various Etiologies.

Chinese medical journal
2017

Peripheral neuropathy in idiopathic Parkinson's disease: A systematic review.

Journal of the neurological sciences
2018

Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy.

Muscle & nerve
2017

Improved sampling and analysis of images in corneal confocal microscopy.

Journal of microscopy
2017

Efficacious Dorsal Root Ganglion Stimulation for Painful Small Fiber Neuropathy: A Case Report.

Pain physician
2017

COL6A5 variants in familial neuropathic chronic itch.

Brain : a journal of neurology
2017

Initial Development and Validation of a Patient-Reported Symptom Survey for Small-Fiber Polyneuropathy.

The journal of pain
2016

Diagnostic value of blood tests for occult causes of initially idiopathic small-fiber polyneuropathy.

Journal of neurology
2016

What's in the Literature?

Journal of clinical neuromuscular disease
2016

Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial.

Trials
2016

Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder.

Parkinsonism & related disorders
2016

[Small fiber neuropathy as a possible cause for chronic pruritus].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2016

Longitudinal Assessment of Small Fiber Neuropathy: Evidence of a Non-Length-Dependent Distal Axonopathy.

JAMA neurology
2016

Small fiber neuropathy: Getting bigger!

Muscle & nerve
2016

Causes of neuropathy in patients referred as "idiopathic neuropathy".

Muscle & nerve
2016

Immunotherapy Prospects for Painful Small-fiber Sensory Neuropathies and Ganglionopathies.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2015

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

Movement disorders : official journal of the Movement Disorder Society
2015

Idiopathic aquagenic pruritus: pathogenesis and effective treatment with atenolol.

Dermatologic therapy
2015

SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.

The Clinical journal of pain

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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. Immunotherapy considerations for distal sensory-predominant and small-fiber peripheral neuropathies.
    Handbook of clinical neurology· 2026· PMID 41526147mais citado
  2. Management of Small Fiber Neuropathy: A Clinical Perspective.
    Muscle & nerve· 2026· PMID 41367223mais citado
  3. Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.
    BMC neurology· 2025· PMID 41107742mais citado
  4. Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.
    Journal of neurology· 2025· PMID 40481865mais citado
  5. Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond.
    Current opinion in neurology· 2025· PMID 40471691mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:658549(Orphanet)
  2. MONDO:0958122(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. Artigo Wikipedia(Wikipedia)

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

Neuropatia idiopática de pequenas fibras
Compêndio · Raras BR

Neuropatia idiopática de pequenas fibras

ORPHA:658549 · MONDO:0958122
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
CID-10
G90.0 · Neuropatia autonômica periférica idiopática
MedGen
UMLS
C5925111
Wikipedia
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