Myology research highlights
RSS feedA 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]
Gaining a better understanding of the cause of two deaths linked to dilandistrogene moxeparvovec in order to better prevent them
US experts in gene therapy for Duchenne muscular dystrophy (DMD) have investigated the causes of two deaths that occurred in 2025 and were attributed to the administration of a single dose of dilandistrogene moxeparvovec (Elevidys®). They propose the following preventive measures: the two patients concerned were aged 15 and 16 respectively and had no risk … [Read more]
Rapamycin: an adjunctive treatment for post-gene therapy hepatotoxicity with AAV?
American specialists in gene therapy using adeno-associated viruses (AAV) have investigated the serious cases of liver toxicity that occurred during gene therapy with microdystrophin (delandistrogene moxeparvovec, Elevidys®) in patients with Duchenne muscular dystrophy: four patients treated with this product who developed serious liver damage on average one month after injection were given higher doses of … [Read more]
The effect of nusinersen on taurine metabolism in SMA
Italian researchers have been investigating taurine, a naturally occurring amino acid whose metabolism appears to be affected in proximal spinal muscular atrophy (SMA): they first demonstrated that taurine levels were significantly reduced in the central nervous system of a mouse model of SMA (SMND7), particularly in the brainstem; taurine levels subsequently measured in the cerebrospinal … [Read more]
Is there an increased risk of cancer in autoimmune myasthenia gravis?
Israeli researchers have investigated the risk of developing cancers other than thymoma in patients with autoimmune myasthenia gravis: data on 1,558 adults with myasthenia gravis were extracted from the Israeli Clalit health database, then compiled and compared with those of a control group; this group of patients had a higher rate of cancers (leukaemia or … [Read more]
