Myology research highlights
RSS feedA comparative study of the extra-muscular manifestations of anti-synthetase syndrome and dermatomyositis
As part of the MYONET patient registry, a consortium of clinicians compared the clinical and biological data of adult patients with either antisynthetase syndrome (ASys) or dermatomyositis (DM): 1054 patients were included in the study (405 with ASys and 649 with DM), One third of patients in the ASys cohort had skin manifestations suggestive of … [Read more]
Clear mitochondrial abnormalities and dermatomyositis: a case report
A team of Italian clinicians report the observation of a 77-year-old woman presenting with a classic picture of dermatomyositis (DM) with positive anti-Mi-2 autoantibodies: study of a biopsy muscle fragment nevertheless revealed very marked abnormalities in the mitochondria, in addition to the characteristic lesions usually found in DM (extensive perifascicular atrophy), the patient did not … [Read more]
Russian success with tofacitinib in FOP
Treatment with tofacitinib 5 mg twice daily was evaluated in 13 children with chronic fibrodysplasia ossificans aged 2.2 to 19.6 years: it reduced the mean number of heterotopic ossification flare-ups from 10 in the 12 months preceding the start of treatment to 0 in the 24 months that followed. thirty-one per cent of patients showed … [Read more]
The French Cannemuss study confirms the efficacy of anti-Covid-19 messenger RNA vaccines in cases of amyotrophy
As the Covid-19 booster vaccination campaign gets underway in France, a new publication of the results of the Cannemuss observational study (supported by the AFM-Téléthon and carried out by Bordeaux University Hospital) shows that : 90.1% of the 33 participants suffering from various neuromuscular diseases that had induced severe muscular atrophy had a serum level … [Read more]
FSHD: searching for the ideal biomarker
British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD): in view of the disappointing and/or contradictory results of studies of DUX4 gene expression in FSHD myopathy, the researchers focused their attention on genes repressed by PAX7, another gene involved in myogenesis and also interacting with DUX4, … [Read more]
Poor quality sleep in CMT?
The Italian Charcot-Marie-Tooth registry conducted a study of sleep and sleepiness among more than 250 patients: 56% had poor quality sleep. 23% doze off during the day. these difficulties were correlated with fatigue, anxiety and depression. The authors therefore recommend assessing sleep in people with CMT, as well as related factors such as fatigue and … [Read more]
Camptocormia and a dropped head are poor prognostic factors in certain forms of myositis
An international consortium of clinicians coordinated by the Strasbourg Reference Centre looked at patients with inflammatory myopathy with regard to two uncommon clinical signs: camptocormia and/or head droop syndrome in 49 patients with inflammatory myopathy, their clinical and biological data were compared with those of 98 patients with inflammatory myopathy but without these two signs, … [Read more]
Challenges facing people with primary mitochondrial myopathy
An article on primary mitochondrial myopathies has been published by the Mitochondrial Medicines Society (MMS) and the United Mitochondrial Disease Foundation (UMDF): it highlights and provides information on the challenges faced by people with this disease: visible and stigmatising symptoms that worsen, reduced autonomy, social isolation, lack of treatment, etc. it encourages professionals and patients … [Read more]
The phenotype of patients with SMA carrying 4 copies of the SMN2 gene varies significantly
The Italian ITASMAC network dedicated to spinal muscular atrophy (SMA) studied 169 individuals, children or adults, with a homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, and not treated by innovative therapy: the sex ratio showed a clear male predominance (102/169), 6 patients were presymptomatic children, 8 had type II … [Read more]
A bone marrow tumour discovered late after treatment with Zolgensma®: case report
American clinicians report the observation, unique to date, of a child diagnosed with SMA in the neonatal period and then treated with gene therapy (Zolgensma® or onasemnogene abeparvovec), who presented neurological signs suggestive of spinal cord compression from the age of 14 months: the patient’s genotype was 0 copies of the SMN1 gene and 3 … [Read more]
