Blog Archives

Myasthenia gravis is the result of an imbalance in the immune system, causing the production of autoantibodies that act against one of the building blocks of the neuromuscular junction. This non-hereditary neuromuscular disease is characterised by a muscle deficit that usually comes and goes, with particular ocular and bulbar impact, and when it becomes generalised, … [Read more]

Several countries have already deployed pilot programs for newborn screening in the SMA, such as Germany, Australia, the United States, Taiwan …  In Belgium, a three-year pilot program (March 2018-February 2021) took place in the area of Liège before extending to the whole of southern Belgium:  9 newborns out of 136,339 tested were diagnosed as … [Read more]

SMA classically includes four types  (I to IV) depending on the age of onset of the deficit and the maximum motor ability achieved by the patient. Type III represents one of the smallest contingents of patients (15-20% of the total, depending on the study) and has been the subject of less observational studies than the … [Read more]

A selective inhibitor of p38 α and β MAP kinases, losmapimod has been investigated in a phase II trial called ReDUX4, randomized, double-blind, placebo-controlled, lasting 48 weeks in 80 adults with type 1 Facioscapulohumeral muscular dystrophy (FDH, or FSHD)/ Already mentioned at the FSHD society congress in June 2021, the results of ReDUX4 were presented … [Read more]

In Sweden, 1,077 patients with myasthenia gravis from the Genes and Environment in Myasthenia Gravis study (GEMG) cohort completed a 106-item self-administered questionnaire including the MG-ADL score.  almost half (47%) of the participants declared an unsatisfactory pathological state (MG-ADL score ≥3p), emphasizing the need to improve treatment.  obesity and female gender were associated with the … [Read more]

Appropriate physical activity is an integral part of the treatment of idiopathic myositis (or inflammatory myopathies), though the mechanisms of action being are not yet clearly defined.  A study of 7 patients with dermatomyositis and 6 patients with autoimmune necrotizing myopathy showed, after a 12-week physical training program (aerobic and resistance):  an increase in the … [Read more]

New clinical trial data in SMA were discussed during the latest edition of the World Muscle Society (WMS) congress from September 20-24, 2021.  Out of five pre-symptomatic infants under 6 weeks of age treated with Evrysdi (risdiplam) for at least one year in the RAINBOWFISH trial, all are able to swallow and feed exclusively orally, … [Read more]

After one year of treatment with risdiplam (Evrysdi), the primary endpoint of the 2nd part of the FIREFISH trial was met. The improvements achieved last up to two years, according to Roche and PTC Therapeutics, two laboratories that are developing risdiplam, a small molecule administered orally which corrects the maturation of SMN2.  The FIREFISH study … [Read more]