RESUMO
We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% were women, and age of onset was 9-79 years. Twenty-seven patients were nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation of America improvement status was achieved in 53% patients on corticosteroids, 51% with plasma exchange, and in 20% on intravenous immunoglobulin (IVIG). Thymectomy was beneficial in 7/18 patients at 3 years. Long-term (> or =3 years) outcome was very favorable in 58% of patients who achieved remission and/or minimal manifestation status. Overall, 73% improved. There was one MG-related death. This survey reinforces several cardinal features of MuSK-Ab-positive MG, including prominent bulbar involvement and anticholinesterase nonresponsiveness. Facial or tongue atrophy was rare. Most patients respond favorably to immunotherapy. The best clinical response was to corticosteroids and plasma exchange, and the poorest response was to IVIG. Long-term outcome is favorable in about 60% of cases.
Assuntos
Miastenia Gravis/imunologia , Miastenia Gravis/terapia , Receptores Proteína Tirosina Quinases/imunologia , Receptores Colinérgicos/imunologia , Adolescente , Adulto , Idade de Início , Idoso , Criança , Intervalo Livre de Doença , Eletromiografia , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imunoterapia , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Troca Plasmática , Prednisona/uso terapêutico , Indução de Remissão , Estudos Retrospectivos , Índice de Gravidade de Doença , Timectomia , Resultado do Tratamento , Estados UnidosRESUMO
Myasthenia gravis (MG) is an immune-mediated disorder with a variable response to treatment. In this study, patients with refractory MG who were treated with rituximab were identified. A review of patients referred to the Yale Neuromuscular Clinic was performed. Patients with refractory MG who were treated with rituximab were reviewed for response to treatment. Patients who had muscle-specific kinase (MuSK(+)) or acetylcholine receptor (AChR(+)) antibodies were included. Six patients were identified who met the criteria described. All patients tolerated rituximab without side effects and had a reduced need for immunosuppressants and/or improvement in clinical function. Patients with refractory MG appeared to respond to rituximab in this small, retrospective study. This result suggests that a larger, prospective trial is indicated.
Assuntos
Anticorpos Monoclonais/uso terapêutico , Miastenia Gravis/tratamento farmacológico , Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais Murinos , Inibidores da Colinesterase/uso terapêutico , Intervalo Livre de Doença , Esquema de Medicação , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Pessoa de Meia-Idade , Miastenia Gravis/imunologia , Prednisona/uso terapêutico , Brometo de Piridostigmina/uso terapêutico , Receptores Proteína Tirosina Quinases/imunologia , Receptores Colinérgicos/imunologia , Estudos Retrospectivos , Rituximab , Resultado do TratamentoRESUMO
BACKGROUND: A 15-year-old boy presented with recurrent episodes of erythema and burning pain in the distal extremities, which he had experienced since early childhood. The episodes were triggered by heat or exertion. His medical history revealed an extensive six-generation family history of similar symptoms. INVESTIGATIONS: Neurological examination, MRI brain scan, electromyography, skin biopsy, laboratory blood testing, and DNA analysis. DIAGNOSIS: Juvenile onset primary erythromelalgia. MANAGEMENT: Genetic counseling, and symptomatic management of neuropathic pain.
Assuntos
Eritromelalgia/genética , Saúde da Família , Neuralgia/genética , Canais de Sódio/genética , Potenciais de Ação/genética , Adolescente , Eletromiografia/métodos , Eritromelalgia/complicações , Eritromelalgia/patologia , Gânglios Espinais/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Canal de Sódio Disparado por Voltagem NAV1.7 , Neuralgia/etiologia , Neurônios/fisiologia , Fenilalanina/genética , Valina/genéticaRESUMO
This study investigated the use of fiberoptic endoscopic evaluation of swallowing (FEES) to both diagnose pharyngeal dysphagia and make treatment recommendations in 17 consecutive patients with a new diagnosis of amyotrophic lateral sclerosis (ALS) and complaints of dysphagia. Ten of 17 (59%) patients exhibited pharyngeal dysphagia with aspiration or aspiration risk with clear liquids, i.e., 5 of 8 (63%) limb and 5 of 9 (56%) bulbar. If depth of bolus flow was a problem, thickened liquids and single, small bolus sizes were recommended. If bolus retention was a problem, a small clear liquid bolus after each puree or solid bolus was recommended to aid pharyngeal clearing. Five of 17 (30%) patients required multiple FEES evaluations because of disease progression. For the first time in patients with ALS, FEES was shown to be successful in assessing preswallow anatomy and physiology, diagnosing pharyngeal dysphagia, and providing objective data for appropriate therapeutic interventions to promote safer oral intake. Visual biofeedback provided by FEES was successful for both patient and family education and to investigate individualized therapeutic strategies that, if successful, can be implemented immediately. Serial FEES allows for objective monitoring of dysphagia symptoms and timely implementation of diet changes and/or therapeutic strategies to continue safer oral intake and maintain optimum quality of life.