Myology research highlights
RSS feedApremilast, a useful additional treatment for refractory skin lesions in dermatomyositis
According to the results of a phase IIa trial conducted in the United States in 8 adult patients with dermatomyositis with well-treated resistant skin lesions and a Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI) greater than 14 : the addition of 2 tablets per day of apremilast (Otezla®) 30 mg resulted in a reduction … [Read more]
Evidence for earlier prescription of rituximab in adult generalized myasthenia gravis
At a time when new therapeutic families are emerging in autoimmune myasthenia, an “old” treatment (rituximab) could play a new role. Indicated until now in refractory forms of the disease, it has just been evaluated in recent generalised myasthenia (12 months or less) by the phase III clinical trial Rinomax, conducted in Sweden in 47 … [Read more]
Evolution of autoantibodies in MG: a review of the literature
Myasthenia gravis (MG) is mostly related to the abnormal production of autoantibodies directed either against the acetylcholine receptor (ARch) or against the MuSK receptor, and much more rarely against other elements of the neuromuscular junction such as titin. A group of European experts, including two French representatives, one of whom is from the Institute of … [Read more]
Anemia and myasthenia gravis
Anemia and myasthenia gravis (MG) are two pathological situations more often reported in the female population. Their association is frequent and of multifactorial origin. Japanese clinicians and biologists sought to find out more by studying a cohort of patients who consulted the Keio University Hospital in Tokyo throughout 2021. 215 women diagnosed and/or followed for … [Read more]
Dutch team confirms the importance of cardiorespiratory monitoring in patients with SEPN1- and LAMA2-related myopathies
A team from Radboud University in the Netherlands compiled the cardiac involvement of 192 cases of SEPN1-related myopathies (mean age 19 years) and 131 cases of LAMA2-related muscular dystrophies (mean age 14 years) published in the literature. In both study populations, cardiac disorders may start in young patients: average age 17 years in LAMA2-related muscular … [Read more]
FOP: the day-to-day burden of the disease
An international survey (NCT04665323), sponsored by the pharmaceutical company Ipsen, which develops palovarotene, and translated into 11 languages was available online between January and April 2021. It was completed by 219 people with FOP and 244 family members from 15 countries including France (20 patients and 21 family members). Almost half of the patients were … [Read more]
A new mutation mechanism in SMA
A few very rare cases of SMA are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. It took 30 years to solve this complex case. The novel mutation corresponded to the insertion of a retrotransposon of … [Read more]
How to treat hypercholesterolemia in the context of Immune-mediated necrotizing myopathy?
Immune-mediated necrotizing myopathy (IMNM) is very often linked to the use, whether prolonged or not, of statins. These cholesterol-lowering molecules are prescribed to nearly one in four Americans. Chilean clinicians have studied the possible alternatives to this treatment to combat the underlying dyslipidemia: the researchers report the case of a 65-year-old patient treated for four … [Read more]
Atypical forms of inclusion myositis are not so exceptional
Inclusion myositis (or IBM for Inclusion body myositis) belongs to the group of inflammatory myopathies of autoimmune origin. US researchers from the Mayo Clinic compiled data from 357 patients diagnosed with IBM between 2015 and 2022 : 14% of patients had clinically atypical forms of the disease, These included isolated swallowing disorders (50%), isolated and … [Read more]
The value of myostatin measurement in the follow-up of inflammatory myopathies
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context: ELISA assays for myostatin and complementary measurement of the … [Read more]
