Myology research highlights

The therapeutic trials leading to the approval of the onasemnogene abeparvovec (Zolgensma) were conducted in children with SMA weighing less than 8.5 kg. In the framework of a compassionate access programme set up by Novartis for this innovative therapy (GMAP programme), this weight limit could be exceeded: 102 children have been treated since September 2021 … [Read more]

An Italian real-life study conducted over 3 months in nine children with type I proximal spinal muscular atrophy (SMA) (1.7-48 months) on Zolgensma®, seven of them having received Spinraza® regularly, showed that : participants’ motor performance improved during the three months of follow-up, this improvement under Zolgensma® was not as great as the initial improvement … [Read more]

Facial muscle involvement is part of the classic description of facioscapulohumeral myopathy (FSH), including deficits of the orbicularis of the lips and eyes. Dutch researchers have developed a new scale to assess the importance and functional impact of this condition: preparatory work with the patients themselves concerning their experience of the disease in this region … [Read more]

Kennedy syndrome or bulbospinal muscular atrophy affects mainly an adult population. Clinicians in South Korea have collected clinical and genetic data from 157 patients with this X-linked recessive neuromuscular disorder: with a median age of 56.9 years, their cohort is mainly composed of adults (33-83 years); a fine tremor of the fingers is very often … [Read more]

Gene therapy for spinal muscular atrophy (SMA) has involved some 40 French infants to date. The onesamnogene abeparvovec (Zolgensma®) was administered in a single intravenous injection. Clinicians in Paris and Nantes report the occurrence in one of them of thrombotic microangiopathy (TMA), a serious and potentially lethal complication directly related to the treatment: this child, … [Read more]

Duchenne muscular dystrophy (DMD) is invariably accompanied by cardiomyopathy, the most frequent cause of death. An American team looked at the kinetics of cardiac involvement by longitudinally analysing cardio-MRI images of 59 children with DMD with a median age of 5.6 years. Compared to images from a control group of healthy subjects, it appears that … [Read more]

This trial was conducted worldwide (but not in France) in 14 infants with presymptomatic SMN1-related proximal spinal muscular atrophy (SMA) with two copies of SMN2 over 18 months, and in 15 infants with three copies of SMN2 over 24 months. The data from these two follow-up periods show that : For the 14 infants with … [Read more]

Myasthenia gravis is a multifactorial disease that is thought to be caused by environmental factors in people with a genetic predisposition. A new international study confirms this hypothesis. Based on genome-wide association study (GWAS) and pantranscriptomic (TWAS) explorations of 1,873 patients with myasthenia gravis with autoantibodies to acetylcholine receptors (AChR) and 36,370 disease-free individuals, this … [Read more]

A telephone survey of 520 patients with neuromuscular disease (including 42.9% myasthenia gravis, 21.5% neuropathy, 18.1% myopathy, 8.3% motor neuron disease) followed at 10 North American specialty centers between May and August 2020 shows that: 50% prefer in-person consultations, 26% prefer virtual consultations, and the rest have no preference; 64% consider physical interaction “very important”; … [Read more]

A retrospective study included 68 Indian patients (37 males and 31 females) with SGCA-related LGMD R3 (22), SGCB-related LGMD R4 (34), SGCG-related LGMD R5 (7) or SGCD-related LGMD R6 (5). The patients have the following characteristics: Onset of the disease is at an average age of seven years. In addition to weakness of the thighs, … [Read more]