Blog Archives

Spinal Muscular Atrophy (SMA) is a group of autosomal recessive neurodegenerative diseases differing in their clinical outcome, characterized by the specific loss of spinal motor neurons, caused by insufficient level of SMN protein expression. No cure is presently available for SMA. While physical exercise might represent a promising approach for alleviating SMA symptoms, the lack … [Read more]

Spring 2016 The Genethon International Postdoctoral Program 2016 is now open. Positions are intended for highly motivated scientists who wish to pursue their career in the research and development of therapies for rare diseases. Postdoctoral research positions are available for a period of three years (37-41 k€ annual gross income depending on qualifications and years … [Read more]

The collagen ColQ anchors acetylcholinesterase (AChE) in the synaptic cleft of the neuromuscular junction (NMJ). It also binds MuSK and perlecan/dystroglycan, 2 signaling platforms of the postsynaptic domain. Mutations in ColQ cause a congenital myasthenic syndrome (CMS) with AChE deficiency. Due to the fact that the absence of AChE does not fully explain the complexity … [Read more]

Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (Capn3) gene. Previous data from this group suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3knock-out mice (C3KO), Ca2+release and Ca2+/calmodulin kinase II (CaMKII) signaling are attenuated. It was hypothesized that calpainopathy may … [Read more]

This longitudinal mixed methods study aimed to assess the perceived effect of salbutamol in adult patients with spinal muscular atrophy (SMA) and to evaluate the usefulness of WHO Disability Assessment Schedule II (WHODAS-II) and Fatigue Severity Scale (FSS) to measure it. Ten patients were interviewed and filled in WHODAS-II and FSS questionnaires to assess disability … [Read more]

Pompe disease is an inherited disorder notable for severe, progressive ventilatory compromise. Although ventilatory failure has been attributed to myofiber dysfunction secondary to diaphragmatic glycogen accumulation, neural involvement of the phrenic motor system is also a prominent feature. Direct diaphragm pacing supplements respiratory function in other disorders of the phrenic motor system. Consequently, the authors … [Read more]

Mutations in DMD disrupt the reading frame, prevent dystrophin translation, and cause Duchenne muscular dystrophy (DMD). Here the authors describe a CRISPR/Cas9 platform applicable to 60% of DMD patient mutations. They applied the platform to DMD-derived hiPSCs where successful deletion and non-homologous end joining of up to 725 kb reframed the DMD gene. This is … [Read more]

  This study aimed to explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD). Twenty-five 53-skippable patients with DMD were included in this study; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months using the … [Read more]

Two multicenter randomised, double-blind, placebo-controlled trials were carried out to determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis. The trials, which included 44 HOP and 21 HYP participants, lasted 9 weeks and were followed by a 1-year extension phase … [Read more]