Myology research highlights
RSS feedMetformin may have a protective effect on statin muscle toxicity
This is the finding of a one-year Korean study which compared 4,092 patients on statins + metformin with 8,161 patients on statins alone. Analysis of data from the Korean national health insurance system revealed an incidence of statin-related muscular symptoms of 201.7 per 1000 people on statins alone and 184.3 per 1000 on statins and … [Read more]
US recommendations on the use of immunoglobulins in MNM
Immunoglobulins are still widely prescribed for certain neuromuscular diseases of autoimmune origin, despite the absence of irrefutable scientific evidence. The scarcity of this type of pharmaceutical product has prompted American doctors to reflect on their proper use in neuromuscular diseases: the initial consensus drawn up in 2009 by the American Association of Myology (AANEM) was … [Read more]
French study highlights neurotoxicity of immune checkpoint inhibitors
Clinicians and researchers belonging to two oncology networks, including one devoted to paraneoplastic syndromes, have studied neurological complications arising during the use of a new class of drugs, immune checkpoint inhibitors: 147 patients were included in the study, reflecting the significant frequency of the phenomenon; complications of the peripheral nervous system were more frequent than … [Read more]
A 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]
