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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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 — 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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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.
Stiff person syndrome.
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.
Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.
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[The difficulties with diagnostics of the stiff man syndrome].
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Complex regional pain syndrome type II localized to the index finger. A case report translating scientific evidence into clinical practice.
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The neurologistAssociações
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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.
- Preliminary Study on Acupuncture Combined with Grain-sized Moxibustion for Treating Rheumatoid Arthritis with Finger Joint Pain.
- Stiff person syndrome.
- Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.
- [The difficulties with diagnostics of the stiff man syndrome].
- Complex regional pain syndrome type II localized to the index finger. A case report translating scientific evidence into clinical practice.
- Bioinspired additive manufacturing material optimization for increased stiffness and improved strain sensing in robotic limbs.
- Efficacy analysis of small-incision in situ decompression under ultrasound combined with shear-wave elastography in the treatment of ulnar neuropathy at the elbow.
- Local heating induces an increase in the pulse wave velocity in peripheral vessels.
- Clinical and Structural Associations of Disability and Gait Performance in Patients With Rheumatoid Arthritis in Remission and Metatarsal Pain.
- Comparison of lower limb biomechanical responses to running-induced fatigue between rearfoot and non-rearfoot strike male amateur marathon runners.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:443804(Orphanet)
- MONDO:0018629(MONDO)
- GARD:17756(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
