Blog Archives
Immune-mediated necrotizing myopathies: time to update the pathologic criteria?
This study aimed to characterise muscle fibre necrosis in immune-mediated necrotizing myopathies (IMNM) with anti-signal recognition particle (SRP) or anti-3-hydroxy-3-methylglutarylcoenzyme A reductase (HMGCR) antibodies and to explore its underlying molecular immune mechanisms. The results showed that creatine kinase levels and muscle regeneration correlated with the proportion of necrotic fibers (r = 0.6, p < … [Read more]
Anti-NT5C1A autoantibodies are associated with more severe disease in patients with juvenile myositis
Autoantibodies recognising cytosolic 5′-nucleotidase 1A (NT5C1A) are found in adult patients with myositis and other autoimmune diseases. They are especially prevalent in adults with inclusion body myositis (IBM), in which they are associated with more severe weakness and higher mortality. This study was undertaken to define the prevalence and clinical features associated with anti-NT5C1A … [Read more]
The benefits and tolerance of exercise in myasthenia gravis
Research exploring the effects of physical exercise in auto-immune myasthenia gravis (MG) is scarce. The few existing studies present methodological shortcomings limiting the conclusions and generalisability of results. It is hypothesised that exercise could have positive physical, psychological as well as immunomodulatory effects and may be a beneficial addition to current pharmacological management of … [Read more]
Institute seminar – February 19th – Matteo Bovolenta (France)
Pre-clinical development of gene editing – therapeutic strategies for neglected mutations Monday February 19th 2018 – 12:00 Matteo Bovolenta (Genethon, France) Host : Vincent Mouly Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies
Myasthenia gravis (MG) with antibodies to muscle-specific kinase (MuSK) is characterized by fluctuating fatigable weakness. In MuSK MG, involvement of bulbar muscles, neck, and shoulder and respiratory weakness are more prominent than in acetylcholine receptor (AChR) MG. MuSK autoantibodies are mainly of the IgG4 subclass, and as such are unable to activate complement, have … [Read more]
Myotonic Dystrophy patient preferences in patient-reported outcome measures
In preparation for clinical trials in myotonic dystrophy type-1 (DM1), it is important to develop and identify patient-reported outcome measures with good measurement properties. This paper describes 52 DM1 patients enrolled in two clinical studies who completed the Myotonic Dystrophy Health Index (MDHI), SF-36v2, Individualized Neuromuscular Quality of Life questionnaire (NQoL), and a questionnaire … [Read more]
A more efficient, transportable device for real-time activities and exercise recognition
Many people in the world are affected by muscle wasting, especially the population hits by myotonic dystrophy type 1 (DM1). Those people are usually given a program of multiple physical exercises to do. While DM1 and many other people have difficulties attending commercial centres to realize their program, a solution is to develop such … [Read more]
A look back on the International Scientific Congress on SMA in Krakow
More than 450 participants attended the first International Scientific Congress on Spinal Muscular Atrophy. Spinal muscular atrophy is a pathology in which research is progressing, trials are increasing, and the first treatment is accessible to patients according to regulatory modalities that differ from one country to another (post-MA in France). It is in this context … [Read more]
Childhood DM1 and autism spectrum disorder: Is there comorbidity?
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments … [Read more]
Quantitative and functional recovery of the sarcoglycan-complex in LGMD2D
Limb Girdle Muscular Dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficking of α-sarcoglycan because the defective polypeptide, although potentially functional, is … [Read more]
