Blog Archives
The Institute is recruiting a Postdoctoral fellow (SLA) for the Centre for Research in Myology
The “Biotherapies for motor neuron disorders group” (BOND) is looking for a postdoctoral fellow to lead a preclinical research project on the evaluation of the therapeutic effects of a gene therapy strategy for the treatment of Amyotrophic Lateral Sclerosis (ALS) caused by mutation of the SOD1 gene. The project includes in vitro studies on human … [Read more]
A new form of muscular dystrophy identified using high throughput sequencing
There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient himself/herself, but also to the family (genetic consultation). In this context, the development of high throughput sequencing or next-generation sequencing (NGS) techniques represents a major contribution. An article published in … [Read more]
M&M’s – Muscle Monday Seminar – 5 July – Silvère M van der Maarel (The Netherlands)
Facioscapulohumeral muscular dystrophy: a monogenic disease with marked clinical, genetic and nuclear heterogeneity Monday July 5th 2021 from 12 am to 1 pm Silvère M van der Maarel (Professor of Medical Epigenetics, Chair Department of Human Genetics, Board Member Division 4, Leiden University Medical Center) Hosted by Piera Smeriglio On prior registration for people outside the … [Read more]
A minimum of two and a half hours of exercise per week would be beneficial in Myasthenia gravis
Myasthenia gravis is a neuromuscular disease linked to the deleterious effects of autoantibodies directed against elements of the neuromuscular junction, mainly the acetylcholine receptor located in the postsynaptic region. This common disease results in typically fluctuating paralysis initially predominant in the eye muscles with possible generalization to other muscle groups, as well as greater fatigue. … [Read more]
Significant association between nutritional status and respiratory status
A close relationship between nutritional status and respiratory muscle function has been demonstrated by clinicians at Raymond Poincaré Hospital (Garches) in 117 adults with Duchenne muscular dystrophy. Aged 18 to 39 years old, they all were on mechanical ventilation at home, in a wheelchair, and were not taking corticosteroids. To get to this conclusion, the … [Read more]
M&M’s – Muscle Monday Seminar – 28 June – Rosanna Piccirillo (Italy)
Exercise-induced myokines against muscle wasting during cancer Monday June 28th 2021 from 2 to 3 pm. Rosanna Piccirillo (Head of the “Neuromuscular Dysfunctions Unit” at Mario Negri Institute for Pharmacological Research IRCCS in Milan (IRFMN), Department of Neurosciences) hosted by Sestina Falcone On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr More information on … [Read more]
A case of autoimmune necrotizing myopathy possibly linked to Covid-19
Autoimmune necrotizing inflammatory myopathy has a special place among autoimmune muscle diseases. Recently described, this entity is diagnosed on muscle biopsy with aspects more necrosis than inflammation, a muscle deficit of varying importance, an increase of CPK level and autoantibodies directed against the HMGCR and / or SRP. Taking statins is one of the triggers … [Read more]
M&M’s – Muscle Monday Seminar – 21 juin – Diane Mathis (Etats-Unis)
The dynamic roles of regulatory T cells in murine skeletal muscle regeneration Monday June 21st 2021 from 2pm to 3 pm. Diane Mathis (Professor of Immunobiology at Harvard Medical School and holder of the Morton Grove-Rasmussen chair of Immunohematology. American National Academy of Sciences. German National Academy of Sciences. American Academy of Arts and Sciences) Hosted … [Read more]
SMA: A very useful compilation of medico-economic studies
SMA has recently experienced a spectacular acceleration at the therapeutic level. Genetically determined, this neuromuscular disease causes paralysis related to the degeneration of peripheral motor neurons and, for some affected children, earlybouleverser death. The arrival on the market of three drugs, Spinraza®, Zolgensma®, and Evrysdi® disrupts the natural history of the disease and raises many … [Read more]
Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case
The literature has already reported a form of mitochondrial myopathy in the newborn, which has the particularity of being self-limiting. This improvement is related to the transient nature of the respiratory chain deficit observed in these young children. This entity is listed as such with the acronym RIRCD for Reversible Infantile Respiratory Chain Deficiency), however, … [Read more]
