Blog Archives

Researchers from Genethon and the Institute of Myology, AFM-Téléthon laboratories, Inserm (UMR 1089, Nantes) and the University of London (Royal Holloway) demonstrated the efficacy of an innovative gene therapy in the treatment of Duchenne muscular dystrophy. Indeed, after injecting microdystrophin (a “shortened” version of the dystrophin gene) via a drug vector, the researchers managed to … [Read more]

X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra … [Read more]

  This study describes two cases of myasthenia gravis (MG) with double seropositivity for acetylcholine receptor (AChR) and low-density lipoprotein receptor-related protein 4 (LRP4) antibodies (AChR/LRP4-MG) with invasive thymoma. Both cases showed myasthenic weakness, which was restricted to the ocular muscles for >5 months from onset, and then unprovoked severe clinical deterioration supervened with predominant … [Read more]

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight … [Read more]

  People affected by neuromuscular disorders can experience adverse psychosocial consequences and difficulties accessing information and support. Online support groups provide new opportunities for peer support. The aim of this study was to understand how contributors used the message board function of a newly available neuromuscular disorders online support group. A total of 1951message postings … [Read more]

  Muscular dystrophies, myopathies, and traumatic muscle injury and loss encompass a large group of conditions that currently have no cure. Myoblast transplantations have been investigated as potential cures for these conditions for decades. However, current techniques lack the ability to generate cell numbers required to produce any therapeutic benefit. In utero stem cell transplantation … [Read more]

  Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. This study aimed to estimate the FOP prevalence in France by probabilistic record-linkage of 2 … [Read more]

  Oral salbutamol has shown clinical benefits in spinal muscular atrophy (SMA). Here, the authors studied its effect on the respiratory muscle strength in children with different types of SMA. Lung and respiratory muscle functions were assessed in children receiving daily oral salbutamol for at least one year. The respiratory data of age-matched SMA II … [Read more]

Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1). However the risk of complications after the placement of these devices is unknown. This study compared the rate of device-related complications between PM and ICD implantations in 23 patients with DM1who were implanted with an … [Read more]