Raras
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Síndrome focal de membro rígido
ORPHA:443804CID-10 · G25.8DOENÇA RARA

Doença do espectro da pessoa rígida, rara, caracterizado por espasmos episódicos dolorosos (que são frequentemente precipitados por toque, dor, frio, movimento ou emoções negativas), aumento da sensibilidade ao estímulo, incluindo hiperecplexia, bem como rigidez, num membro inferior ou superior, tipicamente com início insidioso e progressão ao longo de meses ou anos. A situação pode eventualmente progredir para a síndrome clássica da pessoa rígida. O medo de sair de casa e andar sem ajuda é característico. A maioria dos doentes tem autoanticorpos no soro e no LCR, em particular anticorpos anti-ácido glutâmico descarboxilase (GAD). Em casos raros, a síndrome é de origem paraneoplásica.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença do espectro da personalidade, rara, caracterizada por espasmos episódicos dolorosos (que são frequentemente precipitados por toque, dor, frio, movimento ou emoções negativas), aumento da sensibilidade ao estímulo, incluindo hiperecplexia, bem como fraqueza, num membro inferior ou superior, tipicamente com início insidioso e progressão ao longo de meses ou anos. A situação pode progredir progressivamente para a síndrome clássica da pessoa física. O medo de sair de casa e andar sem ajuda é característico. A maioria dos pacientes tem autoanticorpos sem soro e sem LCR, em particular anticorpos anti-ácido glutâmico descarboxilase (GAD). Em casos raros, a síndrome é de origem paraneoplásica.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G25.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

💪
Músculos
2 sintomas
🦴
Ossos e articulações
2 sintomas
🛡️
Imunológico
1 sintomas
🧠
Neurológico
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

55%prev.
Reflexos exaltados
Frequente (79-30%)
55%prev.
Agorafobia
Frequente (79-30%)
55%prev.
Incapacidade de andar
Frequente (79-30%)
55%prev.
Quedas
Frequente (79-30%)
55%prev.
Positividade do anticorpo anti-ácido glutâmico descarboxilase
Frequente (79-30%)
55%prev.
Rigidez
Frequente (79-30%)
17sintomas
Frequente (10)
Ocasional (7)

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

Reflexos exaltadosBrisk reflexes
Frequente (79-30%)55%
AgorafobiaAgoraphobia
Frequente (79-30%)55%
Incapacidade de andarInability to walk
Frequente (79-30%)55%
QuedasFalls
Frequente (79-30%)55%
Positividade do anticorpo anti-ácido glutâmico descarboxilaseAnti-glutamic acid decarboxylase antibody positivity
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Últimos 10 anos27publicações
Pico20246 papers
Linha do tempo
2025Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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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

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome focal de membro rígido

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Preliminary Study on Acupuncture Combined with Grain-sized Moxibustion for Treating Rheumatoid Arthritis with Finger Joint Pain.

Journal of visualized experiments : JoVE2025 May 16

Most patients with rheumatoid arthritis (RA) often start with pain and swelling in the joints of the extremities, especially the small joints of the hands. At present, the etiology of RA remains unclear, and its pathological process is difficult to control. In clinical treatment, Western medicine mostly uses non-steroidal anti-inflammatory drugs (NSAIDs), disease-modifying anti-rheumatic drugs (DMARDs), glucocorticoids, biologics, etc. While they can alleviate local joint symptoms and reduce inflammatory responses, long-term use may cause significant adverse effects and high costs. In recent years, there has been an increasing application of external Traditional Chinese Medicine (TCM) therapies for treating RA, with a growing number of related studies. In this study, we observed acupuncture combined with grain-sized moxibustion in the treatment of RA with finger joint pain, assessed the changes in tender joint counts (TJC), duration of morning stiffness, the visual analog scale (VAS), erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) level of the patients before and after treatment. The results indicated that acupuncture combined with grain-sized moxibustion was more effective in reducing finger joint pain compared to therapy with simple basic medication for treating RA. Guided by the theory of syndrome differentiation in TCM, this therapy exerts its effects primarily through the stimulation of acupoints and warmth. It offers advantages such as safety, simplicity, ease of operation, precise targeting, and low price, which makes it expected to become a potential complementary therapy to relieve finger joint pain associated with RA and further improve the quality of life for RA patients. The purpose of this study is to provide a standardized operational reference for treating RA with finger joint pain by acupuncture combined with grain-sized moxibustion based on the clinical trial.

#2

Stiff person syndrome.

Handbook of clinical neurology2024

Stiff Person syndrome (SPS) is a rare autoimmune disorder of the central nervous system characterized by stiffness and spasms in the lumbar and proximal lower limb muscles. Nonmotor symptoms include phobias, anxiety, and depression. SPS exists on a spectrum ranging from a focal disease known as the stiff limb syndrome to progressive encephalomyelitis with rigidity and myoclonus. Collectively, these conditions may be referred to as stiff person spectrum disorders, as they share similar core clinical features and autoantibodies against several neuronal proteins, which are involved in modulating central hyperexcitability. Antibodies against the glutamic acid decarboxylase enzyme are most frequently associated with SPS but their role in disease pathogenesis remains uncertain. Other antibodies associated with SPS now include those against the glycine receptor, amphiphysin, dipeptidyl-peptidase-like protein 6, gephyrin, γ-aminobutyric acid receptor A (GABAAR), and the GABAAR-associated protein. First-line treatments for SPS include diazepam and baclofen. Patients who do not respond adequately may benefit from immunotherapy. Intravenous immunoglobulin has the most supporting evidence, and while several other immunotherapies are used, further trials are required to determine their efficacy. Further studies to establish the precise role of autoantibodies in the pathogenesis of SPS are also needed to better understand and manage this disabling condition.

#3

Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.

BMJ case reports2024 Jun 13

We present a rare case of low titre GAD65 antibody-associated autoimmune encephalitis and status epilepticus in a young woman. She initially presented with left arm dystonic movements, contractures and status epilepticus. Due to the concern of autoimmune encephalitis and seizures, the patient received intravenous immunoglobulin empirically. After the detection of low serum GAD65 antibodies, the patient underwent immunomodulation therapy with significant improvement. This case demonstrated that in autoimmune encephalitis, it is important to monitor serum GAD65 antibodies levels and consider immunotherapy, despite mildly elevated serum levels. The patient's history of left arm dystonic movements without impaired awareness may have been due to limb dystonia, a presenting symptom of stiff person syndrome (SPS), despite SPS more commonly affecting axial muscles. This case further demonstrates that GAD65 antibody-related syndromes can manifest with different neurological phenotypes including co-occurrence of epilepsy with possible focal SPS despite low GAD65 antibodies titres.

#4

[The difficulties with diagnostics of the stiff man syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova2024

Stiff-person syndrome (SPS) is a rare immune-mediated disorder of the central nervous system that is characterized by progressive muscle rigidity and painful spasms in the axial and limb muscles, triggered by external stimuli. This disease has significant phenotypic polymorphism, which significantly complicates timely diagnosis and treatment, aggravating disability. Two clinical examples are presented: a patient with the classic phenotype of SPS and a patient with a focal phenotype - stiff leg syndrome. A feature of these cases was atypical symptoms, which made differential diagnosis difficult. Синдром ригидного человека (СРЧ) — редкое иммуноопосредованное заболевание центральной нервной системы, которое характеризуется прогрессирующей мышечной ригидностью и болезненными спазмами в аксиальных мышцах и мышцах конечностей, провоцируемыми внешними стимулами. Данное заболевание обладает значительным фенотипическим полиморфизмом, что значительно затрудняет своевременную диагностику и лечение, усугубляя инвалидизацию. Представлены два клинических примера: пациентки с классическим вариантом СРЧ и пациента с частичным вариантом СРЧ — синдромом ригидных конечностей. Особенностью данных клинических случаев явилась нетипичная симптоматика, затруднившая проведение дифференциального диагноза.

#5

Complex regional pain syndrome type II localized to the index finger. A case report translating scientific evidence into clinical practice.

Physiotherapy theory and practice2024 Nov

Complex regional pain syndrome type II (CRPS-II) is a rare condition associated with peripheral nervous system lesions. Its localized distribution in the fingers is unique, and its treatment is unclear. A 56-year-old male presented to the emergency department with a saw-cut index finger injury with associated tendon and nerve injuries. After surgery, he was admitted to physical therapy (PT) with persistent pain, joint stiffness, allodynia, and trophic changes compatible with CRPS-II localized in the index finger. The diagnosis was confirmed after applying the Budapest Criteria, and PT was progressive and individualized according to the patient's needs, including graded motor imagery, mobilizations, exercises, and education. After 12 weeks of PT, a clinically significant decrease in pain intensity and improvements in mobility and index finger and upper limb functionality was observed, reducing CRPS symptomatology. This report provides information about a unique case of a localized form of CRPS-II. After reviewing the literature on clinical cases of both CRPS-II and localized forms of CRPS, we highlight that the clinical features of this patient and his positive therapeutic response support the importance of translating the scientific evidence on CRPS into clinical practice.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 26

2025

Preliminary Study on Acupuncture Combined with Grain-sized Moxibustion for Treating Rheumatoid Arthritis with Finger Joint Pain.

Journal of visualized experiments : JoVE
2024

[The difficulties with diagnostics of the stiff man syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2024

Seronegative Isaac Syndrome Presenting as Focal Limb Stiffness Responsive to Plasma Exchange Therapy.

Journal of clinical neuromuscular disease
2024

Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.

BMJ case reports
2024

Complex regional pain syndrome type II localized to the index finger. A case report translating scientific evidence into clinical practice.

Physiotherapy theory and practice
2024

Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center.

Pediatric dermatology
2023

White Cord Syndrome: A Treatment Dilemma.

Cureus
2023

Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non-epileptic event.

Epileptic disorders : international epilepsy journal with videotape
2023

A Case of Anti-GAD 65 Autoimmune Encephalitis Associated with Focal Segmental Stiff-Person Syndrome.

Brain sciences
2022

Pearls & Oy-sters: Gait Instability, Jaw Dystonia, and Horizontal Diplopia in a Woman With Anti-Ri Antibodies and Breast Cancer.

Neurology
2022

Pilomotor seizures in autoimmune limbic encephalitis: description of two GAD65 antibodies- related cases and literature review.

Seizure
2022

Unusual presentation of stiff-person syndrome in a patient with type 1 diabetes mellitus.

BMJ case reports
2021

Long-Term Observational Results from the ASPIRE Study: OnabotulinumtoxinA Treatment for Adult Lower Limb Spasticity.

PM &amp; R : the journal of injury, function, and rehabilitation
2020

Complex Focal Pain Syndrome: An Unusual Variant of Complex Regional Pain Syndrome.

Cureus
2019

Stiff limb syndrome with lower limb myoclonus: A case report.

Medicine
2019

[Clinical and neuroimaging features in 6 patients with corticobasal syndrome].

Zhonghua nei ke za zhi
2019

Hepatobiliary phase hypointense nodule without arterial phase hyperenhancement as a risk factor for late recurrence (>1 year) of hepatocellular carcinoma after surgery.

Clinical radiology
2018

Anti-GAD Antibody-associated Syndrome Presenting with Limb Myoclonus.

Tremor and other hyperkinetic movements (New York, N.Y.)
2018

[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns
2018

Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report.

PM &amp; R : the journal of injury, function, and rehabilitation
2017

Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity.

Case reports in neurological medicine
2017

A Wolf in Sheep's Clothing: An "Alien Leg" in Corticobasal Syndrome.

Tremor and other hyperkinetic movements (New York, N.Y.)
2017

GAD65 neurological autoimmunity.

Muscle &amp; nerve
2016

Controlling joint pain in older people.

The Practitioner
2016

Stiff leg syndrome after epidural anesthesia.

European journal of neurology
2015

Lesson From a Case of Cervical Meningioma Misdiagnosed as Parkinsonism.

The neurologist

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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. Preliminary Study on Acupuncture Combined with Grain-sized Moxibustion for Treating Rheumatoid Arthritis with Finger Joint Pain.
    Journal of visualized experiments : JoVE· 2025· PMID 40455676mais citado
  2. Stiff person syndrome.
    Handbook of clinical neurology· 2024· PMID 39174250mais citado
  3. Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.
    BMJ case reports· 2024· PMID 38871638mais citado
  4. [The difficulties with diagnostics of the stiff man syndrome].
    Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova· 2024· PMID 39575966mais citado
  5. Complex regional pain syndrome type II localized to the index finger. A case report translating scientific evidence into clinical practice.
    Physiotherapy theory and practice· 2024· PMID 37909770mais citado
  6. Bioinspired additive manufacturing material optimization for increased stiffness and improved strain sensing in robotic limbs.
    Bioinspir Biomim· 2026· PMID 41747390recente
  7. Efficacy analysis of small-incision in situ decompression under ultrasound combined with shear-wave elastography in the treatment of ulnar neuropathy at the elbow.
    Int Orthop· 2026· PMID 41711820recente
  8. Local heating induces an increase in the pulse wave velocity in peripheral vessels.
    Sci Rep· 2026· PMID 41688553recente
  9. Clinical and Structural Associations of Disability and Gait Performance in Patients With Rheumatoid Arthritis in Remission and Metatarsal Pain.
    J Foot Ankle Res· 2026· PMID 41681131recente
  10. Comparison of lower limb biomechanical responses to running-induced fatigue between rearfoot and non-rearfoot strike male amateur marathon runners.
    Acta Bioeng Biomech· 2025· PMID 41384473recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:443804(Orphanet)
  2. MONDO:0018629(MONDO)
  3. GARD:17756(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q56014178(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 focal de membro rígido
Compêndio · Raras BR

Síndrome focal de membro rígido

ORPHA:443804 · MONDO:0018629
Prevalência
Unknown
Herança
Not applicable
CID-10
G25.8 · Outras doenças extrapiramidais e transtornos dos movimentos, especificados
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4324606
Wikidata
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