Tratamento manipulativo osteopático em paciente com síndrome da pessoa rígida e miastenia gravis: relato de caso / Osteopathic manipulative treatment in person with stiff person syndrome and myasthenia gravis: case report

Introdução: Síndrome da Pessoa Rígida (SPR) é uma doença neurológica autoimune rara caracterizada pela rigidez e espasmos musculares episódicos dolorosos, especialmente no tronco e extremidades do corpo, gerando comprometimento funcional importante. Existe uma lacuna de conhecimento sobre os possíveis efeitos do tratamento manipulativo osteopático (TMO) nos sintomas motores de pessoas com SPR. Objetivos: Descrever os efeitos do TMO na tontura, equilíbrio e amplitude de movimento (ADM) cervical em uma pessoa com a SPR e miastenia gravis. Método: Relato de caso baseado no TMO em uma mulher com SPR e miastenia grave. As seguintes avaliações foram utilizadas: Inventário de Brazilian Version of the Dizziness Handicap Inventory (DHI), Fall Efficacy Scale (FES I ­ Brazil), Timed Get Up and Go Test (TUG), Teste de Sentar e Levantar 5 vezes, goniometria dos movimentos da coluna cervical. Resultados: Nenhum resultado expressivo foi obtido pela FES-I (-1,8%) e DHI (0%). Para os testes funcionais (TUG e Sentado para de pé 5 vezes) observamos melhora de 5,8% e 6,7%, respectivamente, após o tratamento. A ADM cervical melhorou substancialmente em todos os movimentos avaliados (flexão: 60%, extensão: 28%, rotação direita: 33%, rotação esquerda:38%, inclinação lateral direita: 77%, inclinação lateral esquerda: 87%). Conclusão: O TMO proposto pareceu ser importante para melhora da ADM cervical no caso relatado. Medo de quedas, impacto da tontura na qualidade de vida e funcionalidade de membros inferiores não demonstrou melhoras após o TMO.

Introduction: Stiff Person Syndrome (SPS) is a rare neurological autoimmune disease characterized by stiffness and painful episodic muscle spasms, especially in the trunk and extremities of the body, causing significant functional impairment in affected individuals. There is a gap in knowledge about the possible effects of an osteopathic manipulative treatment (OMT) on the motor symptoms of people with SPS. Objectives: To describe the effects of an OMT on dizziness, balance deficit, and cervical range of motion (ROM) in a patient with SPS and myasthenia gravis. Methods: This is a case report on an OMT intervention in a woman with SPS and myasthenia gravis. The following assessments were used: Brazilian Version of the Dizziness Handicap Inventory (DHI), Fall Efficacy Scale (FES I ­ Brazil), Timed Get Up and Go Test (TUG), Stand Up Test 5 times, goniometry of cervical movements. Results: No expressive results were obtained for FES I ­ Brazil (-1.8%) and DHI (0%). For the functional tests (TUG and Sit and stand up 5x) we observed an improvement of 5.8% and 6.7%, respectively, after treatment. The cervical ROM improved substantially in all movements tested (flexion: 60%, extension: 28%, right rotation: 33%, left rotation: 38%, right side bending: 77%, left side bending: 87%). Conclusion: The proposed OMT appears to be important for the improvement of cervical ROM in this case. Fear of falls, impact of dizziness on quality of life, and lower limb functionality did not demonstrate meaningful improvements after the OMT.

Síndrome de la persona rígida asociado a timoma / Stiff person syndrome associated with thymoma

Resumen El síndrome de persona rígida es un cuadro neuro lógico infrecuente caracterizado por rigidez muscular de tronco y extremidades y espasmos musculares ga tillados por estímulos sensoriales o emocionales, que progresa hacia la postración. Cuenta con un mecanismo fisiopatogénico con base inmunológica, en el cual los autoanticuerpos, como el antiGAD65, cumplen un rol central. Asimismo, la detección de dichos anticuerpos corrobora el diagnóstico ante un paciente con cuadro clínico sugestivo. Un 4 a 6% de los casos tienen neoplasias subyacentes. El tratamiento se basa en el manejo sintomático, inmunomodulador y de la enfermedad de base en los casos paraneoplásicos. Reportamos un caso de síndrome de persona rígida clásico asociado a timoma y describimos las características principales de esta entidad.

Abstract Stiff-person syndrome is a rare neurological condi tion characterized by muscular rigidity of the trunk and extremities and muscle spasms triggered by sensory or emotional stimuli, which progresses towards prostra tion. It has a pathophysiogenic mechanism with an immunological basis, in which autoantibodies, such as antiGAD65, play a central role. Likewise, the detec tion of these antibodies corroborates the diagnosis in a patient with a suggestive clinical picture. Four to 6% of cases have underlying neoplasms. Treatment is based on symptomatic, immunomodulatory, and underlying disease management in paraneoplastic cases. We re port a case of classic stiff person syndrome associated with thymoma and review the main characteristics of this entity.

Stiff-Person syndrome: A rare neurological disorder

The Stiff-person syndrome (SPS) is an uncommon disorder characterized by progressive rigidity, muscle stiffness, and spasm involving the axial muscles, resulting in severe impairment of ambulation. We present the case of a 49-year-old gentleman with recent onset of progressive asymmetric spastic ataxia, subsequently diagnosed with SPS.

Progressive encephalomyelitis with rigidity and myoclonus: a case report / 中华神经科杂志

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a specific subtype of the stiff-person syndrome, which is rare and difficult to diagnose clinically. A case of PERM in a 66-year-old female with a fluctuating progressive course was reported in this article. She had increased facial muscle tone, pruritus and sensory hypersensitivity mainly in the head and neck, medullary involvement syndrome and bilateral lower limb rigidity as the main clinical manifestations, and a previous history of pulmonary malignancy, thymoma, typeⅠ diabetes and Hashimoto′s thyroiditis. The patient′s serum and cerebrospinal fluid were positive for anti-glutamic acid decarboxylase antibody. The electromyogram showed a large number of motor unit potentials in the trunk and proximal extremities in the quiet state, which were significantly enhanced during spastic episodes, consistent with the electromyographic manifestations of stiff-person syndrome. The final diagnosis was PERM, and immunotherapy including gamma globulin and hormone responded well. PERM is a rare neurological autoimmune disease with atypical early symptoms, which can be easily misdiagnosed, and it requires attention to avoid delaying the diagnosis.

Progress in clinical phenotype and pathogenesis of neuroimmunological diseases associtated with anti-glutamic acid decarboxylase antibody / 中华神经科杂志

Antibodies to glutamic acid decarboxylase (GAD) have been associated with several neurological syndromes, including stiff-person syndrome, cerebellar ataxia and epilepsy. This article critically reviews the main clinical characteristics and the evidence on the pathogenicity of GAD antibodies.

Clinical analysis of nine cases of neuroimmune disease with antibodies against glutamic acid decarboxylase 65 / 中华神经科杂志

Objective:To explore the clinical features, auxiliary examinations, therapies and prognoses of patients with antibodies targeting glutamic acid decarboxylase 65 (GAD65).Methods:The nine patients with anti-GAD65 neuroimmune disease, admitted to Xuanwu Hospital, Capital Medical University from October 2018 to October 2020, were analyzed, retrospectively.Results:The onset age of nine cases was 17-68 (43.6±20.5) years old, and six cases were female. Two cases had preceding infection. The data of initial symptoms were collected and analyzed, including epileptic onset in four cases, memory impairment in two cases, dizziness in two cases and limb stiffness in one case. As the disease continued to advance, one case developed cerebellar ataxia, one case presented with isolated epilepsy, five cases suffered from limbic encephalitis, one case had stiffman syndrome, one case had brainstem encephalitis. Five cases had antibodies against thyroid peroxidase. Brain magnetic resonance imaging scan showed abnormal signals of T 2/fluid attenuated inversion recovery sequences in four cases, mainly involved bilateral temporal lobes or hippocampus. Epileptiform discharges of frontal or temporal regions of electroencephalography were observed in six cases. All cases received immunotherapy and long-term follow-up was performed in seven cases. Four cases benefited from the immunotherapy. Among the four patients, one fully recovered and returned to work, the other three cases developed neurologic sequelae, including seizures (two cases), and short-term memory loss (one case). The remaining three patients were unresponsive to treatment. Conclusions:GAD65 antibody-mediated neuroimmune disease is a rare neurological disorder, presenting with various syndromes including limbic encephalitis or stiffman syndrome, which is more susceptible to young female. The clinical manifestations included epileptic onset, limb stiffness, cognitive impairment and cerebellar ataxia, etc. Detection of GAD65 antibody in serum or cerebrospinal fluid was gold standard. Early immunotherapy contributed to improving the prognosis of patients, especially for those patients with epileptic onset as the main symptom.

A Case of Paraneoplastic Stiff-person Syndrome with Advanced Breast Cancer

Stiff-person syndrome (SPS) is an extremely rare disease that is characterised by progressive rigidity and muscle spasms affecting the axial and limb muscles and is difficult to diagnose. In SPS, autoantibodies such as anti-GAD antibody or anti-amphiphysin antibody may be proved, and it is speculated that SPS is GABAergic neurons disorder with the central nervous system due to these antibodies. We report a case of advanced breast cancer with a paraneoplastic SPS. Case: A 52-year-old woman was diagnosed with advanced breast cancer with bilateral multiple lung metastases, bilateral cancerous pleurisy, multiple liver metastases, cancerous peritonitis, and bilateral ovarian metastases. Anti-cancer treatment was not indicated due to poor condition, and oxygenation and pleural drainage and ascites drainage were performed in the palliative care unit. A series of symptoms due to muscle rigidity progressed rapidly which initially manifested as dysphagia, then stiffness of the upper extremities and locomotive disability. So she was diagnosed as paraneoplastic SPS by a neurologist. Despite the partial efficacy of diazepam, it was difficult to increase dosage due to sedation.

Síndrome de persona rígida confundido por trastorno conversivo: un error común. caso clínico / Stiff-person syndrome mistaken for conversive disorder: a common error

Stiff-person syndrome is characterized by persistent muscle spasms, involving agonist and antagonist muscles simultaneously, starting in the lower limbs and trunk. It tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that later become continuous and usually painful. Minor sensory stimuli, such as noise or light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. We present a case that for two years was diagnosed and treated as a conversion disorder associated with depression. After two years she was admitted to another hospital with an unmistakable picture of stiff-person syndrome with hypertrophy and rigidity of lower limb muscles, compatible electrophysiology and positive anti-GAD antibodies. She had autoimmune hypothyroidism, that should have raised the suspicion of stiff-person syndrome earlier. She responded to intravenous immunoglobulin and mycophenolate mofetil and and to tranquilizers that have muscle relaxant properties.

Stiff person syndrome: An unusual paraneoplastic neurological phenomenon in Carcinoid tumour

@#Stiff person syndrome is a rare neurologic disorder characterised by rigidity of the truncal and proximal limb muscles with intermittent superimposed spasms. It’s unique because it lacks similarity to any other neurologic disorder. Possibly tetanus is the closest related condition with both inhibiting central gamma-aminobutyric (GABA) systems. Stiff person syndrome is extremely rare with less than 20 cases reported from South Asia which has a population of nearly 2 billion. In its classic form, it is associated with the presence of high titres of glutamic acid decarboxylase (GAD) antibodies. Paraneoplastic stiff person syndrome comprising of around 5% of the patients has been reported with malignancies of the breast, colon, lung, thymus and Hodgkin’s lymphoma. Antibodies against amphiphysin and gephyrin are detected in paraneoplastic stiff person syndrome. We report a 58 year old Sri Lankan male with stiff person syndrome with a high GAD antibody titre and classical electromyographic changes, who was found to have an underlying carcinoid tumour. We postulate that stiff person syndrome was a paraneoplastic phenomenon secondary to the carcinoid in this case. Although neurological syndromes such as sensory neuropathy, limbic encephalitis and, myelopathy have been described as paraneoplastic features in carcinoid, we believe this is the first report of stiff person syndrome associated with carcinoid tumour.

Stiff-Person Syndrome: Diagnostic Difficulty / 대한족부족관절학회지

Stiff-person syndrome is a rare disorder, and the natural history of the syndrome has not been completely ascertained. The symptoms range from mild to severe and can progress over time: the final result can be significant disability. However, this syndrome is often misdiagnosed due to a lack of understanding of the clinical manifestations. We report the case of a patient who presented with slowly progressing gait disturbance and lower extremity pain and was later diagnosed as suffering from stiff-person syndrome. The patient experienced symptomatic improvement after the administration of benzodiazepines. No recurrence of symptoms has been reported. If the characteristic clinical features and electromyography findings of the syndrome are accurately interpreted, diagnosis of patients with abnormal muscle tension can be effectively done.

Clinical features, electrophysiological characteristics and treatment response in eight cases with stiff-person syndrome / 中国神经精神疾病杂志

Objective To investigate the clinical features, electrophysiological characteristics and treatment of stiff-person syndrome (SPS). Methods Medical records were retrospectively collected from 8 SPS patients to analysis their clinical features, laboratory studies, electromyography characteristics and treatment effect. Results All 8 patients presented with classic SPS, experienced progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation, which most frequently involved the thoracolumbar paraspinal muscles and bilateral lower limbs and other parts of body including thoracic and abdominal wall, upper limbs, neck, head and face. Five patients underwent electromyography and the results showed continuous motor unit activity (CMUA) in the involved muscles at rest. CMUA reduced markedly in 2 cases after intravenous diazepam. Anti-glutamic acid decarboxylase (GAD) antibody testing was positive in one of 5 tested cases. All 8 patients experienced partially symptomatic relief for their muscle rigidity and spasm after benzodiazepines. Combined immunotherapy further attenuated the symptoms in two cases receiving intravenous immunoglobulin (IVIG) and one case receiving glucorticosteroids, respectively. Symptoms were completely relieved following thymectomy in 2 cases with thymoma. Conclusion SPS is characterized by progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation affecting the axial trunk and bilateral lower limbs most frequently. Electromyography indicates CMUA in these involved muscles at rest. Treatment with benzodiazepines combined with immunotherapy can improve the neurological manifestations. Thymectomy can completely relieve symptoms of SPS in patiens with thymoma.

Anesthesia in a patient with Stiff Person Syndrome / Anestesia em paciente com síndrome da pessoa rígida

Abstract Stiff Person Syndrome (SPS), typified by rigidity in muscles of the torso and extremities and painful episodic spasms, is a rare autoimmune-based neurological disease. Here we present the successful endotracheal intubation and application of TIVA without muscle relaxants on an SPS patient. A 46 years old male patient was operated with ASA-II physical status because of lumber vertebral compression fracture. After induction of anesthesia using lidocaine, propofol and remifentanil tracheal intubation was completed easily without neuromuscular blockage. Anesthesia was maintained with propofol, remifentanil and O2/air mixture. After a problem-free intraoperative period the patient was extubated and seven days later was discharged walking with aid. Though the mechanism is not clear neuromuscular blockers and volatile anesthetics may cause prolonged hypotonia in patients with SPS. We think the TIVA technique, a general anesthetic practice which does not require neuromuscular blockage, is suitable for these patients.

Resumo A síndrome da pessoa rígida (SPR), caracterizada pela rigidez dos músculos do tronco e das extremidades e por episódios de espasmos dolorosos, é uma doença neurológica autoimune rara. Apresentamos o ocaso de intubação endotraqueal bem-sucedida e aplicação de AVT sem relaxantes musculares em um paciente com SPR. Paciente do sexo masculino, 46 anos, estado físico ASA-II, submetido à cirurgia devido à fratura por compressão da coluna lombar. Após a indução da anestesia com lidocaína, propofol e remifentanil, a intubação traqueal foi concluída com facilidade, sem bloqueio neuromuscular. A anestesia foi mantida com propofol, remifentanil e mistura de ar/O2. Após o período intraoperatório, que transcorreu sem intercorrências, o paciente foi extubado e, sete dias depois, recebeu alta, deambulando com ajuda. Embora o mecanismo não esteja claro, bloqueadores neuromusculares e anestésicos voláteis podem causar hipotonia prolongada em pacientes com SPR. Acreditamos que a técnica de AVT, uma prática de anestesia geral que não requer bloqueio neuromuscular, é adequada para esses pacientes.

Rigidez muscular en el servicio de urgencias. A propósito de un caso / Muscular rigidity in the emergency room. A case report

El espectro de manifestaciones neurológicas en el paciente intoxicado es amplio, entre estas tenemos los trastornos del movimiento y dentro de los mismos se encuentran la rigidez el temblor, distonia aguda, diquinesias, mioclonias, corea, etc. Sabiendo que el hallazgo de éstos obedece a diferentes etiologías, dentro de las cuales están medicamentos, toxinas, trastornos metabólicos, infecciones y lesiones estructurales cerebrales, es importante tener un enfoque diagnóstico apropiado desde urgencias. A continuación revisaremos el caso de una paciente con rigidez muscular quien consultó a un servicio de urgencias. La importancia de este caso radica en que hasta la fecha no se encuentran casos reportados en la literatura donde se evidencien simultáneamente dos causas de alteraciones del movimiento como el síndrome de Isaac's y la intoxicación por estricnina.

The spectrum of neurological manifestations in the poisoned patient is wide. The different manifestations include movement disorders and within the same stiffness are tremor, acute dystonia, tardive dyskinesia, myoclonus, chorea, etc. These finding may be a consequence of different etiologies among which are drugs, toxins, metabolic disorders, infections, and structural brain lesions, it is important to have a proper diagnosis from the emergency approach. We review the case of a patient with muscular rigidity who consulted an emergency room. The importance of this case is that where simultaneously two causes of movement disorders as Isaac's syndrome and strychnine poisoning are evident are up to date.

Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series / Distúrbios neurológicos associadas a anticorpos anti-GAD (descarboxilase do ácido glutâmico): uma série de casos brasileira

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

Distúrbios neurológicos associados com anticorpos anti-GAD são doenças pleomórficas, raras, de causa incerta, das quais a rigidez muscular espasmódica (SPR) é a mais conhecida. Neste estudo, descrevemos nove casos consecutivos de distúrbios neurológicos associados com a presença de anticorpos anti-GAD, incluindo nove pacientes com SPR e três casos com ataxia cerebelar. Adicionalmente, foram encontrados quatro casos com hipotireoidismo, três com epilepsia, dois com diabetes mellitus e dois casos com mioclonia axial.

Movement disorders emergencies: a review / Emergências em distúrbios do movimento: uma revisão

Movement disorders (MD) encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia), acute exacerbation of chronic MD (status dystonicus), hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management.

Os distúrbios do movimento (DM) englobam doenças agudas e crônicas caracterizadas por movimentos involuntários e/ou perda do controle ou eficiência em movimentos voluntários. Nesta revisão, incluímos situações nas quais as principais manifestações são DM que representam risco devido à alta morbidade e mortalidade. Os autores revisaram aspectos relacionados às principais emergências em DM, incluindo aquelas relacionadas a doença de Parkinson; reações causadas por drogas (distonia aguda, síndrome neuroléptica maligna, síndrome serotoninérgica, hipertermia maligna); exacerbação aguda de DM crônicos (status distonicus); hemibalismo e síndrome da pessoa rígida. São destacados a apresentação clínica, os dados demográficos, o diagnóstico e o tratamento.

Nursing care of an elderly patient with stiff person syndrome accompanied with multiple myeloma / 中华护理杂志

This paper reports the nursing care for an elderly patient with stiff person syndrome accompanied with multiple myeloma,which focused on pain management,prevention of muscle spasm,psychological care,close observation of patients' condition,medication monitoring and guidance of functional exercises.After 58 days of careful treatment and nursing care,the patient was discharged from the hospital.

A Case of Paraneoplastic Stiff-Person Syndrome Presenting Multiple Somatic Symptoms / 신경정신의학

Stiff-person syndrome (SPS) is an unusual autoimmune neurological disease. We report a woman who developed stiff-person syndrome associated with thymoma. A 42-year-old woman visited a general hospital complaining of progressive rigidity in her neck and both lower legs. She also had other symptoms including whole body pruritus, dysphargia, dysarthria, diplopia, and a visual hallucination-like symptom. Emotional distress preceded her symptoms. After a extensive neurologic workup, she was transferred from the neurologic ward to the psychiatric ward under the impression of conversion or somatoform disorder. During her psychiatric admission, we found a prolonged involuntary MUAP discharge on her electromyograph, and positive anti-GAD and anti-GQ1b antibodies. In addition, a chest CT scan revealed a thymic epithelial tumor. We report a case of stiff-person syndrome presenting multiple unexplained somatic symptoms, which was initially diagnosed as a conversion or somatoform disorder.

New recognition to stiff-person syndrome / 医学研究生学报

Stiff-person syndrome(SPS) is a rare neurologic disorder with autoimmune features.It is characterized by progressive,severe muscle rigidity or stiffness most prominently affecting the spine and lower extremities.It is frequently associated with diabetes and other autoimmune diseases.The diagnosis of SPS is based on clinical grounds,however,aided by electromyography and high serum titers of antibodies against glutamic acid decarboxylase.Intravenous immunoglobulin infusions,plasmapheresis and steroids provide additional and lasting benefit.Moreover,benzodiazepines,baclofen,tiagabine and botulinum toxin A can afford symptomatic relief.

A Case of Paraneoplastic Stiff-Person Syndrome Associated with Breast Cancer

Stiff-person syndrome (SPS) is a rare CNS disease characterized by progressive fluctuating rigidity and superimposed muscle spasms. We report a woman who developed stiff-person syndrome in association with breast cancer. A 55-year-old woman had progressive rigidity and intermittent muscle spasms, which predominantly occurred in her right shoulder muscles. Her symptoms were aggravated by unexpected stimuli or emotional stress, but relieved during sleep. Needle electromyography showed continuous motor unit activities in affected muscles, which were completely abolished by general anesthesia. An Anti-GAD antibody test was negative. She also disclosed a subacute sensory neuronopathy, confirmed by nerve conduction study and sural nerve biopsy. Chest CT scan revealed an enlargement of the right axillary lymph node, which was proved to be a metastatic ductal carcinoma of the right breast. The authors report the first case of paraneoplastic stiff-person syndrome with sensory neuropathy of axonal type, which is associated with breast cancer.