Myology research highlights

Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes systemic accelerated aging in children. This syndrome is due to a mutation in the LMNA gene that leads to the production of a truncated and toxic form of lamin A called progerin. In this study supported by th AFM-Telethon, a team of French researchers … [Read more]

An international scientific meeting on the congenital forms of laminopathies was held at the end of October at the Institute of Myology, Paris. After Paris in 2014 then Barcelona in 2015, the LMNA consortium met for the 3rd time at the Institute of Myology (Paris) on October 24 and 25, 2016. Organised by Dr. G. … [Read more]

The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate … [Read more]

This observational, cross-sectional study quantified the potential presence of muscle weakness among 107 patients with generalized myasthenia gravis (gMG) and 89 healthy age- and gender-matched controls. The influence of gender, treatment intensity and disease duration on muscle strength and disease progression was also assessed. The main findings of this study show that: 1) patients with … [Read more]

PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). Complementation experiments in yeast lacking glutathione reductase glr1 show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with pryroxD1 … [Read more]

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is … [Read more]

Physiotherapists are demanding of valid outcome measures to assess the evolution of their patient’s motor functions in order to precisely describe the effects of treatments and the progress of diseases. Hence, several scales such as the motor function measure (MFM) have been developed with the aim to measure, with validity and reproducibility and sensitivity, the … [Read more]

Current studies on orthopedic management of scoliosis in most severe SMA patients are limited to type 2 and 3 SMA with scoliosis evolving between 54 and 95°Cobbangle before spinal surgery. There is not available data on the therapeutic effects of orthopedic treatment of spine in type 1b SMA patients. This study evaluated the effectiveness of … [Read more]

Teams from Genethon and The Institute of Myology have demonstrated the efficacy of injecting a gene therapy product into the cerebrospinal fluid (CSF) of a spinal muscular atrophy (SMA) mouse model. Spinal muscular atrophy is related to abnormalities in the SMN1 gene, encoding the motor neuron survival protein, SMN. In SMA, a therapeutic approach involves … [Read more]