Blog Archives
Defining the natural history of LGMD2A
The objectives of this study were threefold: i) to better define the clinical characteristics of a large group of patients with confirmed calpainopathy, ii) to describe the profile and degree of muscle weakness as well as the various modalities of disease progression, and iii) to select outcome measures for future clinical trials. The authors … [Read more]
Use of advanced MRI methods to quantify spinal cord atrophy in SMN1-linked SMA
The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. This study investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness. Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included. Patients were scored on … [Read more]
Institute seminar – 9 May – Sue Shakelton (UK)
The LINC complex: a nuclear-cytoskeletal connector and contributor to inherited muscular dystrophies Monday 9 May 2016 – 12:00-13:00 Sue Shakelton (Leicester, UK) Host : Anne Bertrand Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
AIRE, key factor in the gender inequality for autoimmune diseases
Nadine Dragin, researcher among a team co-directed by Sonia Berrih-Aknin and Rozen le Panse “Myasthenia Gravis, etiology, pathophysiology & therapeutic approach“, brought to light the central role of AIRE, a key factor for immune tolerance, in the gender inequality regarding autoimmune diseases. To prove this inequality, the researchers from the Institute of Myology looked into … [Read more]
Institute seminar – 2 May – Guy-Franck Richard (Institut Pasteur, France)
Trinucleotide repeat expansions from yeast to human cells: molecular mechanisms and new approaches for gene therapy Monday 2 May 2016 – 12:00-13:00 Guy-Franck Richard (Institut Pasteur, France) Host : Denis Furling Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
The first comprehensive global assessment of FOP flare-ups
Fibrodysplasia ossificans progressiva (FOP) leads to disabling heterotopic ossification (HO) from episodic flare-ups. However, the natural history of FOP flare-ups is poorly understood. A 78-question survey on FOP flare-ups, translated into 15 languages, was sent to 685 classically-affected patients in 45 countries (six continents). Five hundred patients or knowledgeable informants responded (73%; 44% males, 56% … [Read more]
Characterisation of a myostatin-deficient GRMD (GRippet) model
Myostatin (Mstn) is a negative regulator of muscle growth whose inhibition promotes muscle growth and regeneration. Dystrophin-deficient mdx mice in which myostatin is knocked out or inhibited postnatally have a less severe phenotype with greater total mass and strength and less fibrosis and fatty replacement of muscles than mdx mice with wild-type myostatin expression. Dogs … [Read more]
Long-term symptom- and treatment-free with autologous HSCT for severe MG
Some patients with myasthenia gravis (MG) do not respond to conventional treatment and have severe or life-threatening symptoms. Alternate and emerging therapies have not yet proved consistently or durably effective. Autologous hematopoietic stem cell transplant (HSCT) has been effective in treating other severe autoimmune neurologic conditions and may have similar application in MG. This retrospective … [Read more]
Value of MRI in clinical trials
Therapeutic perspectives raised attention on the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. This study aimed to analyze the type and extent of muscle involvement on MRI in a large cohort of patients representative of the broad clinical spectrum of this disease. Pelvic and lower limb … [Read more]
Variability of disease severity in childhood CMT
Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. This cross-sectional study thus aimed to assess this variability in a large cohort of children and adolescents with CMT. A total of 520 children and adolescents aged 3 to 20 years at 8 universities … [Read more]
