Myology research highlights

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Levosimendan as rescue therapy for acute heart failure in a patient with DMD

The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe acute heart failure triggered by pneumonia. Levosimendan was effective in improving heart … [Read more]

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. The authors performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. They identified a 6.3 kilobase deletion that occurred in both … [Read more]

EGFR-Aurka signaling rescues polarity and regeneration defects in dystrophin-deficient muscle stem cells by increasing asymmetric divisions

Loss of dystrophin expression in Duchenne muscular dystrophy (DMD) causes progressive degeneration of skeletal muscle, which is exacerbated by reduced self-renewing asymmetric divisions of muscle satellite cells. This, in turn, affects the production of myogenic precursors and impairs regeneration and suggests that increasing such divisions may be beneficial. Here, through a small-molecule screen, a team … [Read more]

Assessment of fatigability in patients with SMA: development and content validity of a set of endurance tests

Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected patients are lacking. Therefore the primary aim of this study is the development of clinical outcome measures for fatigability in patients with SMA across the … [Read more]

Exercise in Myositis

A growing body of evidence supports exercise as a very important part of the treatment for adult patients with idiopathic inflammatory myopathies (IIM). This review mainly focuses on exercise studies published during the last 2 years in adult myositis. During the last couple of years, new publications present further evidence for intensive endurance exercise as an … [Read more]

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Limb-girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal-muscle weakness with >30 genes associated with different subtypes. The clinical-genetic overlap among subtypes and with other NMDs complicate disease-subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical-trial recruitment. Currently seven LGMD clinical trials are active but still no gene-therapy-related … [Read more]

A phase I study of TAS-205 in patients with DMD

Currently, the only approved standard Duchenne muscular dystrophy (DMD) treatment in Japan is oral steroids, which have various disadvantages. Previous work has suggested that hematopoietic-type prostaglandin D synthase (HPGDS), involved in production of the inflammatory mediator prostaglandin D2 (PGD2), might have a role in DMD pathology. Authors therefore investigated the safety, pharmacokinetics (PK), and pharmacodynamics … [Read more]

SMA Europe – Call for SMA Research Projects 2019

SMA Europe is pleased to announce its 10th international Call for SMA Research Projects. This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The online application portal will be accessible from … [Read more]

French expert opinion for the management of juvenile dermatomyositis

A guideline group consisting of a pediatric rheumatologist, internists, rheumatologists, immunologists, a physiotherapist and a patient expert elaborated guidelines related to the management of juvenile dermatomyositis on behalf of the rare autoimmune and autoinflammatory diseases network FAI2R (French Network of rare autoimmune, auto inflammatory diseases). A systematic search of the literature published between 2000 and … [Read more]

Myology 2019: the scientific program of the congress is now online

The detailed program of the Myology 2019 congress to be held from 25 to 28 March 2019 in Bordeaux is now online. The congress begins on Monday with the opening ceremony followed by the opening conference. For the following days, each half-day consists of a plenary session and two parallel sessions. On Tuesday afternoon, the … [Read more]