Myology research highlights

A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families. Here, the authors report the genetic cause of this disorder. Multipoint parametric linkage analysis of six Dutch patients identified a homozygous region of 2.1 Mb on … [Read more]

Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dominant form of PEO is genetically heterogeneous. Recently, causative mutations have been reported in several nuclear genes that … [Read more]

Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An ‘opt in’ screening programme was introduced … [Read more]

DMD is a debilitating X-linked disease that afflicts as many as 1 in 3,500 boys. Although steroids slow musculoskeletal impairment, the effects on cardiac function and mortality remain unknown. This study aimed to determine the impact of steroid therapy on cardiomyopathy and mortality in patients with Duchenne muscular dystrophy (DMD). A cohort study was conducted … [Read more]

Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGNT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by αDG causing a clinically heterogeneous group of congenital muscular dystrophies, commonly referred to as … [Read more]

This call is for applications to organise an international collaborative scientific workshop on a topic relevant for persons with a neuromuscular disorder. The deadline for sending in applications for ENMC workshops to be conducted in the second half of 2013, is March 1st, 2013. Please be informed that incomplete applications and applications submitted after the … [Read more]

The FSHD Global Research Foundation (FSHDGRF) is calling for expressions of interest relating to either a development candidate that could move into IND-enabling preclinical development or a preclinical proof of concept for a potential development candidate. This call for research project applications is for global collaborative projects leading to Pre-IND applications. These projects are intended … [Read more]

February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 24 European countries. On and around this day hundreds of patient organisations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”. Activities will … [Read more]

A recently opened global registry is seeking people with the type 2A form of limb-girdle muscular dystrophy (LGMD2A), which results from a deficiency of the calpain 3 protein. The LGMD2A Patient Registry is designed to be filled out online. It asks for basic demographic information and data about symptoms, diagnosis, functional level, equipment and treatments, … [Read more]

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). Researchers from the Institute of Myology participated in this study that reports an Iranian patient in whom CMS was diagnosed since he presented with … [Read more]