RESUMEN
Disorders of the neuromuscular junction (NMJ) comprise a spectrum of rare diseases causing muscle fatigability and weakness, leading to life-long effects on quality of life. We established the Dutch-Belgian registry for NMJ disorders, based on a unique combination of patient- and physician-reported information. Information on natural course, disease burden, prevalence of complications and comorbidity is collected through patient-reported standardized questionnaires and verified using medical documentation. Currently, the registry contains information of 565 Myasthenia Gravis (MG) patients and 38 Lambert-Eaton myasthenic syndrome (LEMS) patients, constituting approximately 25% (MG) and 80% (LEMS) of patients in the Netherlands. This is a very large registry, with the highest participation rate per capita. In addition to confirming many disease characteristics previously described in the literature, this registry provides several novel insights. The reported rate of potentially corticosteroid-related comorbidity, including hypertension, heart disease, osteoporosis and type 2 diabetes was high, emphasizing the need to commence corticosteroid-sparing immune suppressive treatment as soon as possible. The reported rate of other auto-immune diseases is far higher than previously expected: 27% of MG and 38% of LEMS patients, and a surprisingly high number of MG patients (47%) is unaware of their antibody status. In conclusion, this registry provides a valuable collection of information regarding MG and LEMS disease course. Continuous collection of annual follow-up data will provide further longitudinal insights in disease burden, course and treatment effect.
Asunto(s)
Miastenia Gravis/epidemiología , Adulto , Anciano , Anticuerpos , Costo de Enfermedad , Femenino , Humanos , Síndrome Miasténico de Lambert-Eaton/epidemiología , Masculino , Persona de Mediana Edad , Países Bajos/epidemiología , Medición de Resultados Informados por el Paciente , Calidad de Vida , Sistema de RegistrosRESUMEN
INTRODUCTION: In this study we quantitatively describe ocular weakness patterns in myasthenia gravis (MG) to help neurologists in making the clinical diagnosis and to investigate how the current outcome measures reflect ocular weakness in MG. METHODS: We investigated ptosis and diplopia patterns in a retro- and prospective cohort of 306 MG patients. Diplopia was systematically examined by testing extra-ocular muscle (EOM) fatigability in two horizontal and four oblique directions for 60 seconds. RESULTS: Of patients with initial symmetric ptosis, 40% developed asymmetric ptosis at the second visit. Changes in form of ptosis occurred less often in seronegative MG patients (50%) than in patients with acetylcholine receptor (AChR) antibodies (70%) or muscle-specific kinase (MuSK) antibodies (69%) (pâ=â0.038). Of patients with diplopia on the first visit, double vision contained both a vertical and horizontal component in 95%. At the second visit, 83% manifested diplopia in other gaze directions. The mean time (in seconds) to diplopia was 11.6±14.0 and the mean time to ptosis was 27.6±19.8. Diplopia or ptosis manifested within 30 seconds in 87% and 58%, respectively. Patients who manifested diplopia after 30 seconds, reported no limitations due to diplopia. DISCUSSION: Changes in the gaze directions in which diplopia occurs or ptosis side occur frequently in MG. In diagnostically challenging cases, we recommend testing ptosis and diplopia in multiple gaze directions for 30-60 seconds during at least two follow-up visits to maximize the chance of observing changes in ocular weakness patterns.