Myology research highlights
RSS feedA first observation of a gender effect in SMA
Italian clinicians investigated new predictive factors for the evolution of SMA according to age, type of SMA and gender in 165 adult patients. There were 64 females and 101 males: 13% with type II, 85% with type III and 2% with type IV SMA and with 46% able to sit (sitters) and 54% able to walk … [Read more]
Firdapse® in Myasthenia Gravis too?
3,4-diaminopyridine or amifampridine (Firdapse®) is already indicated in some myasthenic syndromes, congenital or autoimmune (Lambert-Eaton). In the past, case reports had alerted to the possible efficacy of this drug in myasthenia gravis as well. The results of an open-label clinical trial conducted in Italy in 15 adults with anti-acetylcholine receptor (AChR) myasthenia gravis support these … [Read more]
Barriers to heart transplantation in MELAS syndrome remain numerous
MELAS syndrome is associated with mitochondrial encephalomyopathy, elevated lactic acid and pseudo strokes. Impairment of cardiac and renal function is also frequently reported. Italian researchers retrospectively studied the cardiac status of 23 MELAS patients diagnosed in 1998 and 2021 : all had been referred to cardiology for evaluation of first hypertrophic and then dilated cardiomyopathy. … [Read more]
Apremilast, 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]
