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• International CIDP registries were compared to assess infrastructure and collected clinical data, diagnostic data and biomaterials to enhance future research and improve standards of care in CIDP.

Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT. We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations. The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT1. We identified six different point mutations, including two novel mutations. Three families were also found to harbour a Thr118Met mutation. Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.

Fourteen clinicians and scientists, a statistician, a representative of the European Medicines Agency (EMEA) and two representatives of the UK and International GuillainBarre and CIDP patient support groups met at Schiphol Airport to discuss the published evidence for treatment of inflammatory neuropathies and the priorities for future trials of therapy for these conditions. Each participant presented an aspect of the current evidence, data supporting potential new therapies or proposals of trials of existing or novel treatments.

The Cochrane Collaboration (CC) celebrates its 20th anniversary in 2013 and the Cochrane Neuromuscular Disease Group (CNMDG) its fifteenth. The Cochrane Database of Systematic Reviews is an internet-based resource of systematic reviews. The CNMDG has contributed over 100 Cochrane Systematic Reviews (CSRs) of interventions in neuromuscular disease, with almost 40 in preparative pre-publication. Over 100 potential titles still await author groups to tackle them. Cochrane Systematic Reviews not only provide the best summary of the evidence for individual interventions for diseases, but have contributed high quality and valuable data to international neuromuscular guidelines, each review coming at 1/10th of the cost of a NICE guideline. This efficient but high quality contribution is due both to the systematized Cochrane methods and the invaluable participation of over 26,000 Cochrane volunteer authors. Without Cochrane Systematic Reviews some questions about interventions for neuromuscular diseases would still remain ‘unanswered’. The CNMDG has made substantial contributions to literature in specific topics areas of both peripheral nerve and muscle disease. In Guillain-Barre Syndrome (GBS) one meta-analysis demonstrates the ineffectiveness of steroids and more importantly their potential harms, not evident from individual trials [1]. Systematized international multilingual searches for other treatments for GBS have uncovered potential new treatments requiring trial, such as the extract of Tripterygium wilfordii [2]. In Duchenne Muscular Dystrophy a meta-analysis of data from 249 children confirmed effectiveness of glucocorticoid corticosteroids in stabilizing muscle strength and improving function [3], and this is now considered the

There have been suggestions from previous studies that patients with Charcot-Marie-Tooth disease (CMT) have weaker dominant hand muscles. Since all studies to date have included a heterogeneous group of CMT patients we decided to analyze hand strength in 43 patients with CMT1X. We recorded handedness and the MRC scores for the first dorsal interosseus (FDIO) and abductor pollicis brevis (APB) muscles, median and ulnar nerve compound motor action potentials (CMAPs) and conduction velocities in dominant and non-dominant hands. Twenty-two CMT1X patients (51%) had a weaker dominant hand; none had a stronger dominant hand. Mean MRC scores were significantly higher for FDIO and APB in non-dominant hands compared to dominant hands. Median nerve CMAPs were significantly reduced in dominant compared to non-dominant hands. We conclude that the dominant hand is weaker than the non-dominant hand in patients with CMT1X. It has been suggested in previous studies that a difference in hand strength between dominant and non-dominant hands may suggest that overwork weakness causes increased muscle weakness as the dominant hand will be used more by the patient. Whether this extrapolation is valid remains to be seen but it is an important issue as exercise training to improve strength in CMT is a growing area of research. While our study does suggest that the dominant hand is weaker in patients with CMT1X, it would be premature to suggest this is due to overwork weakness.