Raras
Buscar doenças, sintomas, genes...
Síndrome Isaacs
ORPHA:84142CID-10 · G71.1CID-11 · 8C71.4DOENÇA RARA

A síndrome de Isaac é uma doença que afeta os nervos que controlam os músculos (chamados neurônios motores periféricos), e é causada por um ataque do próprio sistema imunológico. Ela se caracteriza por uma atividade constante e involuntária dos músculos, mesmo quando a pessoa está em repouso. Isso leva a sintomas como rigidez muscular, câimbras, tremores musculares finos e contínuos, e dificuldade para os músculos relaxarem depois de se contraírem.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Isaac é uma doença que afeta os nervos que controlam os músculos (chamados neurônios motores periféricos), e é causada por um ataque do próprio sistema imunológico. Ela se caracteriza por uma atividade constante e involuntária dos músculos, mesmo quando a pessoa está em repouso. Isso leva a sintomas como rigidez muscular, câimbras, tremores musculares finos e contínuos, e dificuldade para os músculos relaxarem depois de se contraírem.

Publicações científicas
173 artigos
Último publicado: 2026

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
150
pacientes catalogados
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G71.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

💪
Músculos
5 sintomas
📏
Crescimento
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

55%prev.
Anti-CASPR2
Frequente (79-30%)
55%prev.
Miocimia
Frequente (79-30%)
55%prev.
Hiperidrose
Frequente (79-30%)
55%prev.
Perda de peso
Frequente (79-30%)
55%prev.
Rigidez muscular
Frequente (79-30%)
55%prev.
Espasmo muscular
Frequente (79-30%)
13sintomas
Frequente (11)
Ocasional (1)
Muito raro (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Anti-CASPR2
Frequente (79-30%)55%
MiocimiaMyokymia
Frequente (79-30%)55%
HiperidroseHyperhidrosis
Frequente (79-30%)55%
Perda de pesoWeight loss
Frequente (79-30%)55%
Rigidez muscularMuscle stiffness
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico173PubMed
Últimos 10 anos172publicações
Pico202121 papers
Linha do tempo
2026Hoje · 2026🧪 2001Primeiro ensaio clínico📈 2021Ano de pico
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

🧬

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 — Síndrome Isaacs

🗺️

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
65 papers (10 anos)
#1

Case Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.

Frontiers in immunology2026

The coexistence of myasthenia gravis (MG) with other IgG-mediated autoimmune diseases represents a clinically heterogeneous condition, driven by pathogenic autoantibodies. Efgartigimod, a neonatal Fc receptor antagonist, has the ability to clear all IgG subclasses. Here, we report four cases of MG concomitant with IgG-mediated autoimmune diseases, specifically idiopathic inflammatory myopathies (IIM), Isaacs syndrome, autoimmune encephalitis (AE), and IgG4-related disease (IgG4-RD). All of them demonstrated a favorable therapeutic response to efgartigimod, with marked improvement in QMG and MG-ADL scores, along with disease-specific clinical or laboratory manifestations of the overlapping autoimmune conditions. These cases provide preliminary evidence supporting efgartigimod as a promising treatment option for patients with MG complicated by IgG-mediated autoimmune diseases.

#2

Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society2026 Feb 01

Peripheral nerve hyperexcitability syndromes are characterized by spontaneous motor discharges, fasciculations, and cramps. Morvan syndrome differs from Isaacs syndrome by its central nervous system involvement, autonomic dysfunction, and profound sleep disruption, often presenting as agrypnia excitata. We report two seropositive patients with cramps, fasciculations, insomnia, and autonomic dysfunction but without neuropsychiatric features. Case 1, a 49-year-old man, had LGI1 antibodies and presented with insomnia and autonomic symptoms. Video-polysomnography revealed severe insomnia with absent N3/REM sleep, reduced spindles and K-complexes, and oneiric stupor behaviors. Case 2, a 25-year-old woman, had LGI1 and CASPR2 antibodies, neuropathic pain, and fasciculations. Video-polysomnography demonstrated REM sleep without atonia, rapid N1-to-REM transitions, and microstructural abnormalities of N2 sleep. Tumor screening was negative in both; both improved with immunotherapy. A literature review confirms that video-polysomnography consistently reveals central involvement in Morvan syndrome, characterized by loss of sleep spindles, K-complexes, and pathological REM features, while Isaacs syndrome preserves normal sleep structure. Video-polysomnography is therefore an essential tool to detect subclinical central nervous system dysfunction in Morvan syndrome, especially when neuropsychiatric symptoms are absent, and helps distinguish it from Isaacs syndrome.

#3

Prevalence, clinical profiles, and prognosis of Isaacs syndrome: A nationwide survey study in Japan.

Journal of the neurological sciences2025 May 15

To elucidate current epidemiological, clinical, and immunological profiles, and the treatment of Isaacs syndrome in Japan. We conducted a nationwide survey using established methods. Questionnaires were sent to neurological facilities throughout Japan to identify Isaacs syndrome patients seen between April 2018 and March 2021. The estimated total number of Isaacs syndrome patients was 114 (95 % confidence interval [CI]: 89.63-138.91), and the estimated prevalence was 0.091 per 100,000 population. Detailed clinical data were available for 44 patients. The median age at onset was 40 (range, 17-78 years), and 55 % were female. The median time from symptom onset to diagnosis was 24 months (range, 1-372 months). Electrodiagnostic studies showed evidence of nerve hyperexcitability in 90 % (myokymic discharges in 50 % and stimulus-induced repetitive discharges in 32 %). Of the 28 patients examined in the cell-based assay, 22 % tested positive (11 % for both leucine-rich glioma-inactivated 1 [LGI1] and contactin-associated protein-like 2 [CASPR2] antibodies and 11 % for LGI1 antibodies only). The median modified Rankin Scale (mRS) score was 2 at diagnosis and 1.5 at the last visit. A high mRS score (mRS ≥4) at baseline was an independent risk factor for poor outcomes (mRS ≥3) (Odds ratio, 20.7; 95 % CI, 2.90-209.18; p < 0.001). We elucidated the current epidemiological and clinical characteristics of Isaacs syndrome in Japan. Isaacs syndrome is a rare neuromuscular disorder. Electrophysiologic abnormalities were frequent, and serum antibodies were not detectable in the majority of patients. A high mRS score before treatment was a risk factor for poor outcomes.

#4

Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025 Jun

To date, neuromyotonia in the context of an inherited axonal neuropathy has been linked to autosomal recessive mutations in the histidine triad nucleotide binding protein 1 (HINT1) gene. In this study we describe two unrelated male patients with late-onset, predominantly motor, axonal neuropathy with neuromyotonia, who carried an autosomal dominant c.103G > A mutation in the myelin protein zero (MPZ) gene (NM_000530.8:c.103G > A, p.Asp35Asn), identified by whole-exome sequence analysis (WES).  CASE DESCRIPTIONS: The first patient presented progressive leg muscle weakness and stiffness with difficulty in walking, pain and increased creatine kinase levels,during his fifth decade of life. Electrophysiological examination revealed findings of an axonal, length-dependent polyneuropathy with spontaneous activity, mainly neuromyotonia. Over the 20-year disease course since the first reported symptoms, muscle weakness gradually worsened and he is currently unable to walk without assistance. A second male patient, unrelated to the first one, showed similar clinical and electrophysiological features of a length-dependent axonal neuropathy with neuromyotonia. WES detected the same MPZ missensevariant.  CONCLUSION: This study suggests a novel entity in the spectrum of Charcot-Marie-Tooth hereditary neuropathies, characterized by autosomal dominant axonal neuropathy with neuromyotonia (AD-NMAN).

#5

Neuromyotonia and CASPR2 Antibodies: Electrophysiological Clues to Disease Pathophysiology.

Biomolecules2025 Sep 01

Contactin-associated protein-like 2 (CASPR2) is a transmembrane protein of the neurexin superfamily, essential for clustering voltage-gated potassium channels, particularly Kv1, at the juxtaparanodal regions of myelinated axons. This precise localisation is essential for maintaining normal axonal excitability and preventing aberrant signal propagation. Autoantibodies targeting CASPR2 have been associated with various neurological syndromes, notably peripheral nerve hyperexcitability (PNH), which presents clinically with neuromyotonia and myokymia. PNH is characterised by distinctive electrophysiological findings, including neuromyotonic discharges, myokymic discharges, and afterdischarges, which provide diagnostic value and insight into underlying pathophysiology. This review explores the mechanisms of anti-CASPR2-associated PNH, focusing on how antibody-mediated disruption of Kv1 channel clustering leads to altered axonal excitability. Current evidence suggests that both the distal and proximal segments of the axon are sites of pathological activity, where impairments in action potential termination and re-entry prevention result in spontaneous, repetitive discharges. While afterdischarges likely originate within the axon, the precise location-whether in the alpha-motoneuron soma or axon-is uncertain. The involvement of spinal inhibitory circuits has also been proposed, though it remains speculative. Understanding the neurophysiological features of anti-CASPR2-associated PNH is essential for improving diagnostic accuracy and guiding treatment strategies. Further research is needed to clarify the mechanisms of CASPR2-related hyperexcitability.

Publicações recentes

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📚 EuropePMC110 artigos no totalmostrando 167

2026

Case Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.

Frontiers in immunology
2026

Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2025

Neuromyotonia and CASPR2 Antibodies: Electrophysiological Clues to Disease Pathophysiology.

Biomolecules
2025

A Case of Isaacs Syndrome Developed After Thymectomy for Myasthenia Gravis.

Cureus
2025

A case report of Isaacs' syndrome with treatment-resistant pain responsive to rituximab.

Ideggyogyaszati szemle
2025

Prevalence, clinical profiles, and prognosis of Isaacs syndrome: A nationwide survey study in Japan.

Journal of the neurological sciences
2025

Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Ocular neuromyotonia after peribulbar block.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

Presumed acquired neuromyotonia of unknown cause in a cat with hyperthyroidism.

JFMS open reports
2025

Muscle ultrasound as a key in assisting the diagnosis of neuromyotonia.

Neuromuscular disorders : NMD
2024

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Genes
2025

Neuromyotonia in a 16-year-old female with dramatic improvement after IVIG therapy: Case report and literature review.

Neuromuscular disorders : NMD
2024

Isaacs' syndrome: Clinical and paraclinical perspectives in a series of cases.

Current journal of neurology
2024

The neurobiology and immunology of CASPR2-associated neurological disorders.

Revue neurologique
2024

Oculomotor Nerve Neuromyotonia: An Inflammatory Syndrome.

Neurology
2024

Oral management for a patient with trismus accompanied by Isaacs' syndrome: a case report.

BMC oral health
2024

Generalized Peripheric Nerve Hyperexcitability with Neuropathy: Case Series with Long-Term Outcome.

Noro psikiyatri arsivi
2024

Paraneoplastic autoimmune neurologic disorders associated with thymoma.

Handbook of clinical neurology
2024

Paraneoplastic neuropathies and peripheral nerve hyperexcitability disorders.

Handbook of clinical neurology
2024

Ocular neuromyotonia: an unusual case after radiotheraphy for nasopharyngeal carcinoma.

Archivos de la Sociedad Espanola de Oftalmologia
2024

Ocular Neuromyotonia: Clinical Features, Diagnosis, and Outcomes.

American journal of ophthalmology
2024

The risk of malignant hyperthermia in neuromyotonia is low.

Revista espanola de anestesiologia y reanimacion
2023

Occult bowel cancer presenting as Morvan syndrome.

BMJ case reports
2023

Systematic Review of the Clinical Characteristics and Management of Isaac Syndrome.

Journal of clinical neuromuscular disease
2023

Neuromuscular Ultrasound Findings of Myokymia in a Young Woman With Generalized Anti-LGI-1 and Anti-Caspr2 Antibodies Negative Isaac Syndrome.

Journal of clinical neuromuscular disease
2023

Isaacs syndrome with LGI1 and CASPR2 antibodies after HPV vaccination: A case report.

Medicine
2023

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

Journal of veterinary internal medicine
2023

An Unusual Presentation of Dermatomyositis With Muscle Hypertrophy.

Cureus
2023

Clinical, neurophysiological and serological clues for the diagnosis of neuromyotonia and distinction from cramp-fasciculation syndrome.

Neuromuscular disorders : NMD
2024

Conversion of Superior Oblique Myokymia to Superior Oblique Neuromyotonia in a Patient With History of Superior Oblique Palsy.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2024

Bilateral Oculomotor Ocular Neuromyotonia-A Rare Case Due to Nasopharyngeal Carcinoma Radiotherapy.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Effectiveness of therapeutic plasma exchange in case of rare neurological disorder Isaacs syndrome.

Asian journal of transfusion science
2023

HINT1-Associated Axonal Neuropathy with Neuromyotonia.

Neurology India
2023

Retinal Vasculitis in a Patient With Isaacs Syndrome and Inclusion Body Myositis.

Journal of vitreoretinal diseases
2023

The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.

Animal genetics
2023

A Rare Phenomenon of Isaacs Syndrome: A Case Report.

Cureus
2023

Anesthetic management of neuromyotonia. Description of a case.

Revista espanola de anestesiologia y reanimacion
2022

Rituximab Was Effective in Relieving Symptoms of Isaacs Syndrome: A Case Report.

Cureus
2022

Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.

International journal of molecular sciences
2022

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Orphanet journal of rare diseases
2023

Leucine-rich Glioma-inactivated 1 Encephalitis Followed by Isaacs Syndrome: Alternating Presence of Pathogenic Autoantibodies to Leucine-rich Glioma-inactivated 1 and Contactin-associated Protein-like 2.

Internal medicine (Tokyo, Japan)
2022

[Rare diseases in the differential diagnosis of myalgia].

Der Nervenarzt
2022

Autoimmune neuromyotonia.

Current opinion in neurology
2022

Ocular neuromyotonia: a review of diagnosis and treatment.

Current opinion in ophthalmology
2024

Simultaneous Ocular Motor Neuromyotonia and Aberrant Regeneration in Metastatic Cavernous Sinus Disease.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2022

When muscle quivers and undulates.

Clinical case reports
2022

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Clinical genetics
2022

Morvan's syndrome Presenting with Psychiatric Manifestations - A Case Report and Review of the Literature.

Neurology India
2022

Thyroid peroxidase antibodies may induce demyelination and oculomotor neuromyotonia in the absence of thyroid eye disease.

Neuro endocrinology letters
2022

A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.

Acta neurologica Belgica
2022

Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle.

Animal : an international journal of animal bioscience
2022

Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.

BMC neurology
2022

Neuromyotonia: a skin-deep problem.

BMJ case reports
2022

Isaacs' syndrome as the initial presentation of malignant thymoma and associated with double-positive voltage-gated potassium channel complex antibodies, a case report.

BMC neurology
2022

Ocular Neuromyotonia in Children and Adolescents Following Radiation Treatment of Pediatric Brain Tumors.

Journal of pediatric ophthalmology and strabismus
2021

Neuromuscular junction disorders beyond myasthenia gravis.

Current opinion in neurology
2021

HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS
2021

Post-Irradiation Facial Neuromyotonia/Myokymia: A Hemifacial Spasm Mimic.

Tremor and other hyperkinetic movements (New York, N.Y.)
2022

Morvan Syndrome Converted from Isaacs' Syndrome after Thymectomy with Positivity for Both Anti-LGI1 and Anti-CASPR2 Antibodies.

Internal medicine (Tokyo, Japan)
2021

A Case of Hemi-Isaac's Syndrome.

Movement disorders clinical practice
2021

Electrodiagnostic Assessment of Hyperexcitable Nerve Disorders.

Neurologic clinics
2021

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

Molecular genetics &amp; genomic medicine
2021

Anti-voltage-Gated Potassium Channel (VGKC) Antibodies and Acquired Neuromyotonia in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Lined (IPEX) Syndrome.

Journal of clinical immunology
2021

Mercury poisoning complicated by acquired neuromyotonia syndrome: A case report.

Medicine
2021

Demystifying the spontaneous phenomena of motor hyperexcitability.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2021

An Unusual Case of Muscle Twitching: Its LGI1.

Neurology India
2021

Teaching Video NeuroImage: Clenched Fists as an Unusual Presentation of Focal Neuromyotonia.

Neurology
2021

Tacrolimus as a therapeutic option in patients with acquired neuromyotonia.

Journal of neuroimmunology
2021

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.

International journal of molecular sciences
2021

Case report: Isolated muscle neuromyotonia, as presenting feature of Isaacs' syndrome.

Journal of neuroimmunology
2021

Anesthetic Management of Robotic Thymectomy in a Patient With Morvan Syndrome: A Case Report.

A&amp;A practice
2021

Utility of stimulus induced after discharges in the evaluation of peripheral nerve hyperexcitability: Old wine in a new bottle?

Journal of the peripheral nervous system : JPNS
2021

A case of Isaacs' syndrome associated with spinal muscular atrophy.

Acta neurologica Belgica
2022

Post-surgical left oculomotor nerve neuromyotonia: Cause or coincidence?

European journal of ophthalmology
2021

Immune-associated neuromyotonia syndrome following mercury poisoning.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020

Ocular neuromyotonia of the right third cranial nerve.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2020

A Rare Case of Peripheral Nerve Hyperexcitability in Childhood: Isaacs Syndrome.

Journal of pediatric neurosciences
2020

Anti-CASPR2-Antibody-Positive Isaacs' Syndrome Presenting with Myokymia, Neuropathic Pain, and Hyperhidrosis.

Journal of clinical neurology (Seoul, Korea)
2021

Clinical Reasoning: A 6-Year-Old Boy With Muscle Twitching.

Neurology
2020

Isaacs syndrome: the frontier of neurology, psychiatry, immunology and cancer.

Journal of neurology, neurosurgery, and psychiatry
2020

William F. Hoyt and the Neuro-Ophthalmology of Superior Oblique Myokymia and Ocular Neuromyotonia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2020

Anaesthesia and orphan disease: A patient with neuromyotonia undergoing single lung ventilation.

European journal of anaesthesiology
2021

Effectiveness of immunotherapy in a CASPR2 and LGI1 antibody-positive elderly patient with Isaacs' syndrome: a case study.

Acta neurologica Belgica
2020

Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features.

Journal of neurology, neurosurgery, and psychiatry
2020

Stop testing for autoantibodies to the VGKC-complex: only request LGI1 and CASPR2.

Practical neurology
2020

Focal neuromyotonia associated with a C9ORF72 expansion mutation.

Muscle &amp; nerve
2020

Morvan Syndrome and Diffuse Large B-Cell Lymphoma in the Central Nervous System.

The neurologist
2020

ANTIBODIES AND RECEPTORS: From Neuromuscular Junction to Central Nervous System.

Neuroscience
2021

Case of Facial Neuromyotonia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2020

Painful myokymia after surgery in a patient with Isaacs' syndrome: a case report.

JA clinical reports
2020

Isolated seizure as initial presentation of GABAA receptor antibody-associated encephalitis.

Journal of the neurological sciences
2020

Childhood onset of acquired neuromyotonia: association with vitamin D deficiency.

The International journal of neuroscience
2019

Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype.

Neuromuscular disorders : NMD
2020

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels.

Journal of veterinary internal medicine
2019

[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019

Waves in Extremities: A Rare Report of Isolated Isaacs' Syndrome.

Cureus
2019

Peripheral nerve hyperexcitability.

Handbook of clinical neurology
2019

Normal and abnormal spontaneous activity.

Handbook of clinical neurology
2019

Teaching Video NeuroImages: Cold-induced laryngeal pseudomyotonia in Isaacs syndrome.

Neurology
2019

Autoimmune Channelopathies at Neuromuscular Junction.

Frontiers in neurology
2019

Gaze-Provoked Exotropia in a Young Woman.

JAMA ophthalmology
2019

Spontaneous Remission of Isaacs’ Syndrome.

Balkan medical journal
2019

Congenital Ocular Neuromyotonia with Partial Third Nerve Palsy.

Journal of binocular vision and ocular motility
2019

Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies.

Developmental medicine and child neurology
2019

Acquired neuromyotonia in thymoma-associated myasthenia gravis: a clinical and serological study.

European journal of neurology
2019

Neuromyotonia in a horse.

Journal of veterinary internal medicine
2018

Association of Leucine-Rich Glioma Inactivated Protein 1, Contactin-Associated Protein 2, and Contactin 2 Antibodies With Clinical Features and Patient-Reported Pain in Acquired Neuromyotonia.

JAMA neurology
2018

Bilateral oculomotor ocular neuromyotonia: a case report.

BMC neurology
2018

Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma.

Neurology
2019

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.

European journal of medical genetics
2018

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy.

Neuromuscular disorders : NMD
2018

Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report.

A&amp;A practice
2018

A rare case of paroxysmal diplopia: ocular neuromyotonia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2018

Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia.

Journal of molecular biology
2018

Successful Improvement of Pain Symptomatology in a Suspected Case of Cramp-Fasciculation Syndrome via Interventional Pain Treatment.

Journal of pain &amp; palliative care pharmacotherapy
2018

Teaching Video NeuroImages: Acquired focal neuromyotonia in LGI-1 autoimmunity.

Neurology
2018

Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation.

Internal medicine (Tokyo, Japan)
2018

Ocular Neuromyotonia: Case Reports and Literature Review.

Strabismus
2018

[Current Perspective on Voltage-gated Potassium Channel Complex Antibody Associated Diseases].

Brain and nerve = Shinkei kenkyu no shinpo
2018

Isaacs syndrome: A slow potassium channelopathy caused by autoantibodies?

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2018

A rare case of bilateral ocular neuromyotonia.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2018

Mechanisms of Caspr2 antibodies in autoimmune encephalitis and neuromyotonia.

Annals of neurology
2017

Peripheral Nerve Hyperexcitability Syndromes.

Continuum (Minneapolis, Minn.)
2017

Teaching Video NeuroImages: Bilateral abducens ocular neuromyotonia.

Neurology
2017

Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.

Expert opinion on therapeutic targets
2018

Urinary manifestations in Isaacs's syndrome. Our experience in 8 cases.

Neurourology and urodynamics
2017

[A case of stiff-person syndrome due to secondary adrenal insufficiency].

Rinsho shinkeigaku = Clinical neurology
2017

Paraneoplastic neuromyotonia due to lung carcinoma and invisible muscle cramps evaluated using ultrasonography.

Journal of neuro-oncology
2017

Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report.

Acta neurologica Belgica
2017

Isaacs syndrome with CASPR2 antibody: A series of three cases.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2017

The Mystery of the Locking Eye.

JAMA neurology
2017

Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome.

The Journal of the American Osteopathic Association
2017

The generator site in acquired autoimmune neuromyotonia.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2017

Axonal neuropathy with neuromyotonia: there is a HINT.

Brain : a journal of neurology
2017

Neuromyotonia as an unusual neurological complication of primary Sjögren's syndrome: case report and literature review.

Clinical rheumatology
2016

Abducens neuromyotonia: a delayed neuro-ophthalmic complication of cranial radiation.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2016

Isaacs' syndrome with overlapping myopathy as the first manifestation of AL amyloidosis.

Journal of neurology
2016

[Voltage-Gated Potassium Channel-Complex Antibodies Associated Encephalopathy and Related Diseases].

Brain and nerve = Shinkei kenkyu no shinpo
2016

Acquired hemophilia A associated with myasthenia gravis and Isaacs' syndrome.

Journal of the neurological sciences
2016

Extensive Postradiation Ocular and Diffuse Cranial Neuromyotonia Mimicking Myasthenia Gravis.

The neurologist
2017

Isaacs' syndrome and Hodgkin lymphoma: a rare association.

Acta neurologica Belgica
2016

Characterization of a Subtype of Autoimmune Encephalitis With Anti-Contactin-Associated Protein-like 2 Antibodies in the Cerebrospinal Fluid, Prominent Limbic Symptoms, and Seizures.

JAMA neurology
2016

Ptosis, Miosis, and Intermittent Esotropia Following Pituitary Adenoma Resection.

JAMA ophthalmology
2016

Teaching NeuroImages: Ocular neuromyotonia: An underrecognized cause of transient diplopia.

Neurology
2016

Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft
2017

Isaacs' syndrome in a patient with dermatomyositis: case report and review of the literature.

International journal of rheumatic diseases
2016

[Autoimmune Associated Encephalitis and Dementia].

Brain and nerve = Shinkei kenkyu no shinpo
2016

Strabismus Surgery in Patients With Ocular Neuromyotonia: Potential Unmasking of the Condition and Effective Management Tool.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2016

When it rains it pours: amyotrophic lateral sclerosis concealed with Isaac's syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2016

Use of botulinum toxin type A for the treatment of radiation therapy-induced myokymia and neuromyotonia in a dog.

Journal of the American Veterinary Medical Association
2016

Endoscopic treatment for esophageal varices complicated by Isaacs' syndrome involving difficulty with conventional sedation.

Clinical journal of gastroenterology
2016

Abducens ocular neuromyotonia as a delayed complication of oropharyngeal carcinoma treated with radiation.

Head &amp; neck
2016

Coexistence of ocular neuromyotonia and hemifacial spasm.

Neurology
2016

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.

Neuropediatrics
2016

Atypical case of Morvan's syndrome.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2015

Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.

Neuromuscular disorders : NMD
2016

Thymoma associated with autoimmune diseases: 85 cases and literature review.

Autoimmunity reviews
2015

[The Spectrum of Neuromyotonia: Clinics, Therapy and Outcome].

Fortschritte der Neurologie-Psychiatrie
2015

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.

Muscle &amp; nerve
2015

Ocular Neuromyotonia and Myasthenia Gravis.

Journal of pediatric ophthalmology and strabismus
2015

Neuromyotonia with polyneuropathy, prominent psychoorganic syndrome, insomnia, and suicidal behavior without antibodies: a case report.

Journal of medical case reports
2015

Images in clinical medicine. Paraneoplastic neuromyotonia.

The New England journal of medicine
2015

Autoimmune channelopathies in paraneoplastic neurological syndromes.

Biochimica et biophysica acta
2015

Isaacs syndrome: A review.

Muscle &amp; nerve
2015

[A case of Isaacs' syndrome causing various central nervous symptoms successfully treated with high-dose intravenous methylprednisolone therapy].

Rinsho shinkeigaku = Clinical neurology
2015

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Muscle &amp; nerve
2015

Paraneoplastic nerve hyperexcitability.

Neurological research

Associações

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Comunidades

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Doenças relacionadas

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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.

  1. Case Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.
    Frontiers in immunology· 2026· PMID 41869344mais citado
  2. Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.
    Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society· 2026· PMID 41348524mais citado
  3. Prevalence, clinical profiles, and prognosis of Isaacs syndrome: A nationwide survey study in Japan.
    Journal of the neurological sciences· 2025· PMID 40058033mais citado
  4. Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2025· PMID 40009145mais citado
  5. Neuromyotonia and CASPR2 Antibodies: Electrophysiological Clues to Disease Pathophysiology.
    Biomolecules· 2025· PMID 41008569mais citado
  6. A Case of Isaacs Syndrome Developed After Thymectomy for Myasthenia Gravis.
    Cureus· 2025· PMID 40718168recente
  7. A case report of Isaacs' syndrome with treatment-resistant pain responsive to rituximab.
    Ideggyogy Sz· 2025· PMID 40476450recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:84142(Orphanet)
  2. MONDO:0019399(MONDO)
  3. GARD:6793(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q520797(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

Síndrome Isaacs
Compêndio · Raras BR

Síndrome Isaacs

ORPHA:84142 · MONDO:0019399
Prevalência
<1 / 1 000 000
Casos
150 casos conhecidos
Herança
Not applicable
CID-10
G71.1 · Transtornos miotônicos
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0242287
EuropePMC
Wikidata
Wikipedia
Papers 10a
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