Myology research highlights
RSS feedFacial involvement is common in inclusion myositis
Following on from previous work on facioscapulohumeral muscular dystrophy (FSHD), researchers in Marseilles have studied the characteristics of facial muscle deficit in people with inclusion myositis (IBM), an inflammatory pathology preferentially affecting a middle-aged population: the study cohort comprised 32 IBM sufferers, the protocol consisted of video analysis of facial movements during seven specific tasks, … [Read more]
Testosterone in DMD improves the situation but does not normalise it
The Newcastle team looked at the long-term follow-up of a cohort of 15 boys with Duchenne muscular dystrophy on corticosteroids who were treated with increasing doses of testosterone for two years: the average age of participants at the end of the study was 18.7 years and the average duration of corticosteroid treatment was 11.2 years; … [Read more]
A new glycogen overload myopathy
French researchers report the discovery of a gene responsible for a new myopathy beginning in childhood and accompanied by an accumulation of glycogen in the muscles: the clinical picture was relatively benign and did not progress very far, the index case, with no family history, was 26 years old and had been in diagnostic limbo … [Read more]
IV immunoglobulins are particularly effective against the cutaneous signs of dermatomyositis
The good results of the international ProDERM trial, evaluating Octagam® intravenous immunoglobulin versus placebo in 95 adults with dermatomyositis, led to an extension of the indication in 2022. Post-hoc analysis of these data shows that monthly infusions of Octagam® : a significant improvement versus placebo in the cutaneous manifestations of the disease (CDASI-A and CDASI-D … [Read more]
A natural history of paediatric RYR1-related congenital myopathies
Two major London paediatric neuromuscular centres carried out a retrospective study of 69 children with RYR1-related myopathy followed up between 1992 and 2019: 29 presented a dominant form of myopathy linked to RYR1, 31 a recessive form, six a de novo dominant form and three a form of transmission as yet undefined; Onset ranged from … [Read more]
No correlation between fatigue and severity in SMA?
The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among 243 adults affected by the disease have been published: responders were asked to use three of the following five fatigue measurement instruments: the Modified Fatigue Impact Scale (MFIS), the Multidimensional … [Read more]
Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
In a press release dated 30 October 2023, Sarepta Therapeutics announced the initial efficacy results of the Embark trial, a phase III trial of Elevydis (SRP-9001), a microdystrophin gene therapy drug approved in the United States in June 2023. The trial involved 124 participants aged between 4 and 7 years (59 aged between 4 and … [Read more]
Study identifies key criteria for optimum wheelchair adjustment
A study financed by the AFM-Téléthon sought to identify the main positioning criteria guaranteeing the health and quality of life of adult wheelchair users with type 2 proximal spinal muscular atrophy (SMA type 2) or Duchenne muscular dystrophy (DMD): The expert consensus study was conducted using the Delphi method, with the participation of 74 experts … [Read more]
Efgartigimod active on different muscle groups in myasthenia gravis
A post-hoc analysis of the results of the Adapt trial, which was conducted in France in 167 adults with a generalised form of autoimmune myasthenia gravis, showed that efgartigimod resulted in : an improvement, greater than on placebo, in each of the muscle sub-domains (respiratory, ocular, bulbar, limb) assessed by the MG-ADL score, observed from … [Read more]
The development of arimoclomol stops in inclusion myositis
With a prevalence of 1 in 200,000 in Europe, sporadic inclusion myositis is the most common idiopathic myositis after the age of 50. It is characterised by muscle damage, often asymmetric with amyotrophy, and begins in the quadriceps and/or finger flexors. Muscle biopsy shows two phenomena: inflammation and degeneration with accumulation of various proteins (beta-amyloid, … [Read more]
