Blog Archives
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with LGMD Type 2C and 2D
Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy, impaired respiratory muscle function and cardiomyopathy. The correlation and the prognostic impact of respiratory and heart impairment are poorly described. A group of french clinicians aimed to describe the long-term cardiac and … [Read more]
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy
In this article, researchers from the Institute of Myology explored the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD). The study includes twenty-five 53-skippable patients with DMD; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months … [Read more]
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1
Here, researchers from the Institute of Myology have focused on walking difficulties and balance problems in a population of 22 adults affected in DM1, with an average age of 42 years, was compared to a matched group of similar age. The study evaluated gait using lower-trunk accelerometry and investigated relationships between gait abnormalities, postural instability, … [Read more]
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome
The prevalence and the incidence of atrial flutter in patients with myotonic dystrophy type 1 (DM1) and the most appropriate strategies for its management are unknown. Atrial flutter is a common manifestation of this disease, potentially complicated by arterial thromboembolism or severe bradyarrhythmias. In this article, a team of french clinicians retrospectively included in the … [Read more]
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review
The most common form of Myasthenia gravis (MG) is due to anti-acetylcholine receptor (AChR) antibodies and is frequently associated with thymic pathology. In this review, a team of french researchers, including Team 7 from the Institute of Myology, discuss the immunopathological characteristics and molecular mechanisms of thymic follicular hyperplasia, the effects of corticosteroids on this … [Read more]
September 7th: World Duchenne Awareness Day
Organized by UPPMD (United Parent Projects Muscular Dystrophy), a worldwide organisation dedicated to finding a cure and viable treatments for DMD, to promoting good standards of care and to informing parents around the globe, Septembrer 7th marks the World Duchenne Awareness Day from 2014. This years’ campaign will be focused on Early Diagnosis programs: identifying and … [Read more]
Call for proposals on remyelination projects
ARSEP Foundation and AFM-Téléthon will provide significant support (€ 300,000) for 2 to 3 scientific projects of high caliber for one year. Applications will be evaluated on their international competiveness and the originality of the proposed work. Research projects from basic science to clinical research will be considered, provided they have primarily focused on the … [Read more]
Cortactin antibodies in patients with double-seronegative myasthenia gravis
This retrospective cross-sectional study describes the frequency and clinical features of patients with double-seronegative myasthenia gravis (dSNMG) who have cortactin antibodies. Cortactin plays a critical role in the development of the neuromuscular jusntion. The authors investigated serum samples from 38 patients with clinically and electrophysiologically defined MG who were negative for AChR and MuSK antibodies. … [Read more]
TOR1AIP1 mutations associated with cardiac failure
This study describes a family with mutations in TOR1AIP1 TorsinA-interacting protein 1 (TOR1AIP1), a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. In this family, the noticeable clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular … [Read more]
High dose subcutaneous immunoglobulin therapy has no deleterious effect on QoL in patients with rare inflammatory diseases
In patients with autoimmune diseases who still derive benefit from high dose intravenous immunoglobulin (IVIg) treatment, some physicians resort to subcutaneous (SC) Ig as a replacement therapy. In this observational study, the authors collected quality of life (QoL) and tolerance data on SCIg in patients for whom the switch from IVIg to SCIg is essential … [Read more]
