Myology research highlights
RSS feedDescription 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]
Constipation in SMA type I can be controlled with the right diet
British clinicians conducted a clinical trial of a diet rich in amino acids and probiotics in 14 children with type I spinal muscular atrophy. To participate, the children had to be tube fed for at least 90% of their energy intake and have gastrointestinal disorders: the median age of the participants in this open study … [Read more]
Beneficial effects of tamoxifen on muscle strength in mouse models of centronuclear myopathies
A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its efficacy in the animal model of myotubular myopathy or Duchenne muscular dystrophy. The investigators studied the effects of five weeks of tamoxifen administration in two three-week-old mouse models: one of … [Read more]
