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.
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.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Immunotherapy considerations for distal sensory-predominant and small-fiber peripheral neuropathies.
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.
Management of Small Fiber Neuropathy: A Clinical Perspective.
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.
Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.
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.
Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.
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.
Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond.
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
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📚 EuropePMCmostrando 128
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Handbook of clinical neurologyGenetically predicted the causal relationship between gut-brain axis and chronic pain: a Mendelian randomization study.
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Journal of neuroimaging : official journal of the American Society of NeuroimagingIdiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.
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Journal of neuroinflammationIdentifying Predictors of Idiopathic Small-Fiber Neuropathy in Adolescent Patients With Chronic Pain.
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Current reviews in clinical and experimental pharmacologyHarlequin syndrome: using clinical features and autonomic testing to unmask the disorder.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyEfficacy of High-Frequency Spinal Cord Stimulation in Idiopathic Asymmetrical Small-Fiber Neuropathy Case Report.
Pain medicine case reportsReduced functional resting-state connectivity in chronic pain patients with small fiber neuropathy.
The journal of painSerological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.
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Current opinion in neurologyThe Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type.
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Journal of clinical medicineThe Experience Sampling Method in Small Fiber Neuropathy: The Influence of Psychosocial Factors on Pain Intensity and Physical Activity.
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Frontiers in neurologySmall-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies.
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American journal of ophthalmology case reportsSmall Fiber Neuropathy in Burning Mouth Syndrome: A Systematic Review.
International journal of molecular sciencesCorrelation Between Orofacial Pain and Sensory and Autonomic Neuropathies.
Journal of pain researchSmall Fiber Neuropathy in Veterans With Gulf War Illness.
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European journal of pain (London, England)Automated immunohistochemistry of intra-epidermal nerve fibres in skin biopsies: A proof-of-concept study.
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The Clinical journal of painAssociações
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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.
- Immunotherapy considerations for distal sensory-predominant and small-fiber peripheral neuropathies.
- Management of Small Fiber Neuropathy: A Clinical Perspective.
- Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.
- Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.
- Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- 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.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:658549(Orphanet)
- MONDO:0958122(MONDO)
- Busca completa no PubMed(PubMed)
- 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.
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