Myology research highlights
RSS feedA very high risk of cardiac complications in Emery-Dreifuss muscular dystrophy
An international consortium of researchers and clinicians investigated disorders of cardiac function and/or cardiac rhythm during the course of Emery-Dreifuss muscular dystrophy linked to the gene encoding emerin (EMD1) of X-linked recessive transmission : longitudinal clinical and electrophysiological data from 38 men with EMD1 and 21 symptomatic female EMD1 transmitters were analysed in the study, … [Read more]
Neuromuscular diseases in developing countries: increasing genetic data from under-represented populations
While most (86%) published genetic data on neuromuscular diseases comes from populations of European ancestry, the majority of affected families live in low- to middle-income countries. In 2019, a transcontinental collaboration (Africa, South America, Asia and Europe) began, with the aim of rebalancing the proportion of genetic data from under-represented populations. Four years after the … [Read more]
Congenital myasthenic syndromes are common in India
The team of clinicians at Bangalore University Hospital in southern India compiled clinical and genetic data on all cases of congenital myasthenic syndrome (CMS) diagnosed in their unit between 2014 and 2019 : 156 patients from 146 families were included in the study, in the vast majority of cases (94%), a molecular signature could be … [Read more]
A founder effect identified in South Indian patients with beta-sarcoglycanopathy
Beta sarcoglycanopathy is one of the four forms of limb-girdle myopathy associated with sarcoglycan deficiency. Indian clinicians have just identified an outbreak of this disease in their country: 14 patients from 13 unrelated families in southern India (the states of Karnataka, Tamil Nadu and Andra Pradesh) were diagnosed with limb-girdle muscular dystrophy with beta-sarcoglycan deficiency, … [Read more]
A 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]
