Myology research highlights
RSS feedA comparative analysis of antibody assays in a large Brazilian cohort of myositis patients
Rheumatologists reviewed the clinical and immunological data of 351 adults diagnosed with inflammatory myopathy, with the aim of determining the prevalence of antinuclear antibodies by comparing it with that of other autoantibodies: three-quarters of the sample were positive for antinuclear antibodies (ANA), most commonly isolated in the nucleus, and less frequently in the cytoplasmic or … [Read more]
Tools to better understand the deterioration of walking in hereditary or acquired neuropathies
Researchers in Lille studied gait parameters in patients with Charcot-Tooth disease type 1A (33) and chronic inflammatory demyelinating polyneuropathy (CIDP) (31) under specific conditions: their walking was filmed in a natural state and during concurrent verbal stimulation (of low or high intensity), video analysis revealed differences between the two groups, with CIDP patients being more … [Read more]
Autism spectrum disorders in children with SMA type 1 are not that rare
Brazilian clinicians sought to determine the prevalence of autism spectrum disorders (ASD) among children with the most severe form of SMA type 1 who had survived thanks to the use of an innovative therapy: 13 children meeting these criteria were included in an observational study comprising age-adjusted cognitive and behavioural tests; they were on average … [Read more]
Significant variability in autoantibody tests
Autoantibody testing is a key step in the diagnosis of many autoimmune diseases, including myositis. Against this backdrop, an international consortium of laboratories responsible for these tests has compared its practices and issued recommendations: 15 laboratories (in Europe, North America, Australia and Japan) took part in this comparative study and tested 24 reference sera from … [Read more]
A new national protocol for the diagnosis and management of calpainopathies
New guidelines for the diagnosis and management of calpainopathies (LGMD R1 and LGMD D4) have recently been published with a view to optimising clinical practice and reducing the time to diagnosis, as part of a new National Diagnostic and Care Protocol (PNDS). There are three main phenotypes of LGMD R1, defined according to the site … [Read more]
A new pathogenic mechanism identified in oculo-pharyngo-distal myopathy
Oculo-pharyngo-distal myopathy, with or without leukoencephalopathy, is caused in particular by the repetition of the GGC triplet in regions of DNA previously considered non-coding within at least six genes (LOC642361, LRP12, GIPC1, NOTCH2NLC, RILPL1 and ABCD3). Researchers from France, China and Japan have shown that these sequences are in fact located within previously unknown open … [Read more]
Bioequivalence between Spinraza and its generic version, GNR-100, has been demonstrated in SMA
GNR-100 could be the first generic version of Spinraza for SMN1-related proximal spinal muscular atrophy. A Russian study has demonstrated bioequivalence between the two products, both of which contain the active ingredient nusinersen sodium (an antisense oligonucleotide). Comparative analyses have shown that the structural and physicochemical properties of the two products are similar. The impurity … [Read more]
Two easy-to-use tools for assessing bulbar function in SMA
Canadian researchers used two tools designed to assess bulbar function in adults with SMN1-related proximal spinal muscular atrophy (SMA): 15 adults with SMA took part in this 12-month validation study, which measured maximal phonation time (MPT) and the S/Z ratio, assessing the specific phonation time for the phonemes ‘s’ and ‘z’, whilst correlating these data … [Read more]
Ten years of diagnosing congenital muscular dystrophies and congenital myopathies in the UK
The team at Great Ormond Street Hospital in London compiled clinical and molecular data from patients suspected of having congenital myopathy or congenital muscular dystrophy (CMD): all had undergone high-throughput sequencing (NGS) genetic testing; of the 1,927 individuals studied with these two presumptive diagnoses, only 29% received a confirmatory molecular diagnosis, i.e. 553 patients; 345 … [Read more]
Late-onset facio-scapulo-humeral muscular dystrophy constitutes a distinct group
An international consortium of experts on facioscapulohumeral muscular dystrophy (FSHD) has compiled observations from patients diagnosed at a relatively advanced age: using clinical and biological data from a previous clinical trial called RESOLVE, the group identified 41 patients with late-onset FSHD, many of whom were female, with an average age of 65, with muscle weakness … [Read more]
