Myology research highlights
RSS feedTowards an extension of the phenotypic range of variants linked to the PSAT1 gene?
Mutations identified in the PSAT1 gene were previously known to cause abnormalities, often severe, of the central nervous system. Beijing researchers report the original case of two unrelated patients with PSAT1 gene mutations and a particular phenotype: the picture associated sensitivo-motor disorders compatible with Charcot-Marie-Tooth disease (CMT) and cutaneous ichthyosis, CMT was clearly of axonal … [Read more]
Efgartigimod passes phase III and early access in Myasthenia Gravis
A disease of the neuromuscular junction, Myasthenia Gravis benefits from relatively intense therapeutic research for a rare disease with more than 60 clinical trials underway or in preparation registered on the ClinicalTrials website at the beginning of February 2023. Among the therapeutic avenues under investigation is the promising family of antibodies directed against neonatal Fc … [Read more]
Description of a second form of DNAJB4-related myopathy
Two months after the publication of a new DNAJB4-related myopathy in four patients, a Japanese-American study describes six more patients with another, as yet unreported, form. The study of patients with this new form reveals: a heterozygous mutation (c.270 T > A) of the DNAJB4 gene ; an autosomal dominant mode of transmission; an onset … [Read more]
Publication of the first prospective natural history study of FOP
An international study carried out in eight expert centres (including one in France) for fibrodysplasia ossificans progressiva (FOP) has clarified the natural history of the disease and its outbreaks of heterotopic ossifications. Of the 114 initial participants (nearly 15% of known cases), aged 4 to 56 years, 33 completed the study with a mean follow-up … [Read more]
Scoliosis in children with SMA type I receiving nusinersen
A Canadian team from Toronto reports the development of scoliosis in seven infants with SMA type I (homozygous deletion of SMN1 with 2 copies of SMN2) treated with nusinersen before the age of 6 months and followed for a median of 21 months (range 10-57 months). Nusinersen resulted in an improvement in the CHOP-INTEND global … [Read more]
Negative CHMP opinion on the European marketing authorisation for palovarotene (Sohonos®)
The results of the MOVE clinical trial of palovarotene (Sohonos®) in fibrodysplasia ossificans progressiva (FOP), published in December 2022, did not convince the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) They showed : in 97 people with PFO, a 62% reduction in the mean annualised volume of heterotopic … [Read more]
Muscle imaging as an assessment methodology in OPMD
Canadian researchers have developed a whole-body magnetic resonance imaging protocol to aid diagnosis and study the natural history of the disease in ten patients with oculopharyngeal muscular dystrophy (OPMD): data obtained by quantitative and semi-quantitative methods were compared with those of ten patients with other muscular dystrophies and five subjects without the disease, the degree … [Read more]
Clinical gender differences in FKRP-related LGMDR9
Using four patient registries, one study was able to identify all patients (153) in Norway with genetically confirmed FKRP-related LGMD R9. The estimated disease prevalence for the country is 2.84/100,000 in the general population (the highest known to date), with 1.98/100,000 in the paediatric population and 3.06/100,000 in the adult population. A study of the … [Read more]
Current innovative treatments for SMN1-related proximal spinal muscular atrophy in adults
Prof. Cintas of the Toulouse Neuromuscular Reference Centre published in December 2022 a review of new therapies for SMN1-related proximal spinal muscular atrophy (SMA) in adults. It shows that : more than 80% of adults with SMA consider that a treatment that stabilises the evolution of their disease constitutes an important therapeutic advance. For nusinersen … [Read more]
Retinal anomalies in inflammatory myopathies are frequent and should not be overlooked
Indian and British researchers studied these phenomena by subjecting the patient cohort named MyoCite to a battery of ophthalmological tests. 43 adults with inflammatory myopathy, mainly dermatomyositis, were included in the study, Retinal abnormalities (vessel pallor, accentuated tortuosity, etc.) were noted in almost half of the patients, regardless of the type of myositis. They were … [Read more]
