Myology research highlights
RSS feedIV 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]
Myositis patients prefer subcutaneous Ig at home to intravenous infusions in hospital
“I have regained control of my life”. This verbatim summarises the very consensual view of a group of seven adults with polymyositis or dermatomyositis on the home administration of polyvalent immunoglobulins (Ig) subcutaneously, using an infusion pump or syringe pump. Followed at the Pitié-Salpêtrière Hospital (Paris), these patients took part in a qualitative study, which … [Read more]
Hypokalemic periodic paralysis may present as progressive muscle weakness with or without episodes of periodic paralysis
A Danish team followed 37 people with hypokalaemic periodic paralysis due to CACNA1S mutations for three years (26 to 52 months): two were asymptomatic 21 had only episodes of periodic paralysis, two had isolated permanent muscle weakness, 12 had episodes of periodic weakness associated with a permanent muscle strength deficit. During follow-up : two remained … [Read more]
Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging
Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic resonance imaging (MRI): 54 patients with one of the three subtypes of OPDM and 57 patients with OPMD were included in a comparative study, OPDM patients had the same MRI … [Read more]
