Myology research highlights

In the context of a recent revision of the classification and recommendations for certain rare cancers, Italian researchers conducted a comprehensive review of the literature to determine the frequency and impact of thymus tumors, particularly in children with myasthenia gravis. Thirty-two articles were selected corresponding to 82 cases of pediatric thymomas diagnosed in the last … [Read more]

German researchers have developed a multiparametric neuromuscular imaging protocol to estimate the impact and follow the evolution of motor neuron loss in patients with spinal muscular atrophy (SMA): 13 adult patients and a control group participated in the study. The study consisted of imaging of the sciatic nerve and two muscles of the thigh (biceps … [Read more]

An exoskeleton is a complex and sophisticated piece of equipment that can partially compensate for a person’s motor deficiencies in the context of paralysis. Spanish researchers have developed one of these tools by adapting it to the specific needs of patients with spinal muscular atrophy (SMA). They report on a real-life experience with a young … [Read more]

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]

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]

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]

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]

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 (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]

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]