Myasthenia gravis: do not forget the patient perspective

Neurological Motor Disorder

Myasthenia gravis: subgroup classification and therapeutic strategies

Neurological Motor Disorder

Myasthenia gravis: subgroup classification and therapeutic strategies

Neurological Motor Disorder

Myasthenia gravis: subgroup classifications Reply

Neurological Motor Disorder

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers.

OBJECTIVE: To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors. STUDY DESIGN: Retrospective population-based epidemiological study using EUROCAT congenital anomaly registries. The study population included all cases of AMC (based on WHO ICD-9 or ICD-10 codes) that were livebirths (LB), fetal deaths (FD) from 20 weeks gestation and underwent termination of pregnancy for fetal anomaly (TOPFA), 1980-2006. RESULTS: Among 8.9 million births covered by 24 EUROCAT congenital anomaly registries, 757 AMC cases were reported. This gives a prevalence of 8.5 per 100,000. Five hundred and four (67%) AMC cases were LB, 199 (26%) cases were TOPFA, and FD occurred in 54 (7%) cases. First week survival status was known for 381 of the 504 LB (76%), of whom 87 (23%) died within the first week of life. Perinatal mortality associated with AMC was 32%. Two hundred and eighty-two (37%) cases had isolated AMC, 90 (12%) had additional syndrome or chromosomal anomalies and 385 (51%) had other major malformations. The same or similar anomaly was reported in 13% of siblings and in 12% of the mother's own family background. Information on prenatal testing was available for 521 cases of which 360 tested positive for a congenital anomaly, representing a sensitivity of 69%. Information on maternal illness before and during pregnancy and medication use in the first trimester was available for approximately a third of the mothers, of whom the vast majority reported no maternal illness or medication use. CONCLUSION: AMC is a rare occurrence, with a reported prevalence of 1:12,000. In this study, while information on potential risk factors such as maternal disease or maternal use of drugs was limited, they did not appear to be associated with the occurrence of AMC. AMC was lethal in a third of cases, either in utero or during the first week of life, although this may not be solely attributed to AMC as most cases had additional malformations

Matrix Metalloproteinases in Myasthenia Gravis

Introduction: Myasthenia gravis (MG) is an autoimmune disease with weakness in striated musculature due to anti-acetylcholine receptor (AChR) antibodies or muscle specific kinase at the neuromuscular junction. A subgroup of patients has periocular symptoms only; ocular MG (OMG). Matrix metalloproteinases (MMP) are increased in several autoimmune diseases, including generalized MG (GMG), and have been suggested to play a role in immune cell infiltration, basement membrane breakdown and autoimmune pathogenesis. Methods: Total levels of MMP2, MMP3 and MMP9 were measured in serum by ELISA. Results: The MG patients had increased serum levels of MMP2 (median values 200.7 vs. 159.7 ng/ml, p < 0.001) and MMP9 (median values 629.6 vs. 386.4 ng/ml, p < 0.001) compared to controls. A subgroup of patients had increased MMP3 concentration (p = 0.001). The differences were not dependent on presence of AChR antibodies. No difference was observed between GMG and OMG patients with regard to MMP2 (p = 0.598), MMP3 (p = 0.450) and MMP9 (p = 0.271). Discussion: The increased MMP levels in our MG patients group and the lack of dependence on anti-AChR antibodies suggest that MMP2, MMP3 and MMP9 play a role in the development of MG. The similarities between GMG and OMG support OMG as a systemic disease. Copyright (C) 2011 S. Karger AG, Base

EFNS task force report: a questionnaire-based survey on the service provision and quality assurance for determination of diagnostic autoantibody tests in European neuroimmunology centres

Autoantibodies to a wide variety of neural components are frequently sought in the sera of patients with neurological diseases suspected to have an antibody-associated autoimmune basis. Variations in assay methodology and availability are likely to exist throughout European diagnostic immunology centres, and interlaboratory discrepancies in performance for some assays have been reported. The availability of quality assurance is largely unknown. In this questionnaire-based EFNS task force, all 18 national representatives of the Neuroimmunology Panel within the EFNS were invited to estimate the service provision within their country; 12 panel members responded. From these responses, it emerged that a range of assays are being performed throughout European centres, involving over 20 separate antigens, using a broad array of immunodetection techniques. With the exception of the estimation of anti-AChR antibodies for the diagnosis of myasthenia gravis, no systematic quality assurance schemes are available, this being conducted on an ad hoc basis, or not at all. Since quality is a central component of assay sensitivity and specificity, we conclude that there is an urgent need to introduce pan-European quality assurance schemes, based on provision of positive and negative test sera from a central source, and in which all neuroimmunology laboratories should participate