Search Results for: fsh

A detachment of the shoulder blades of varying importance is present in many neuromuscular diseases. Linked to weakness in the muscles fixing shoulder blades, the phenomenon is the cause of disfigurement, sometimes major functional discomfort and, sometimes, painful phenomena. This is especially true in facio-scapulo-humeral myopathy (FSH) where this detachment is constant and very pronounced. … [Read more]

Losmapimod is a p38 MAP kinase inhibitor, which has already shown good tolerance in several diseases (myocardial infarction, chronic obstructive pulmonary disease, etc.). In FSH, encouraging results in vitro and in vivo showing that losmapimod reduces the expression of the DUX4 gene have confirmed the launch of clinical trials by the company Fulcrum Therapeutics. The … [Read more]

Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA. This was a retrospective study of 10 STAs, performed sequentially, in 5 FSHD patients. … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent late-onset muscular dystrophies, characterized by progressive fatty replacement and degeneration involving single muscles in an asynchronous manner. With clinical trials at the horizon in this disease, the knowledge of its natural history is of paramount importance to understand the impact of new therapies. The aim … [Read more]

Nutritional compounds can exert both anti-inflammatory and anti-oxidant effects. Since these events exacerbate the pathophysiology of muscular dystrophies, the authors investigated nutraceutical supplementation as an adjuvant therapy in dystrophic patients, to low costs and easy route of administration. Moreover, this treatment could represent an alternative therapeutic strategy for dystrophic patients who do not respond to … [Read more]

The purpose of the study was to determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and to identify the demographic and clinical features that are associated with the greatest disease burden in this population. The authors performed a cross-sectional study involving 328 participants with FSHD. Collectively, participants … [Read more]

Facioscapulohumeral Dystrophy (FSHD) results in slowly progressive strength impairment, especially the upper extremities. Recent discoveries regarding pathophysiology have led to exciting novel therapeutic strategies. To further facilitate drug development, improved FSHD outcome measures that are functionally-relevant and sensitive to longitudinal change will be critical. Recently, a motion sensor (Kinect)-based upper extremity outcome called ‘reachable workspace’ … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by a selective muscular deficit (muscles of the face, shoulders and arms). This characteristic made it a good candidate in assessing the efficacy of ACE-083, a drug molecule developed by Acceleron, which, when administered by intramuscular injection, exercises a local myostatin-inhibiting action. In 2016, a phase II clinical trial … [Read more]

Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients’ identification through registries can facilitate and improve recruitment in clinical trials and studies. The French National Registry of FSHD patients was designed … [Read more]

The aim of this national multicenter cohort study was to compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. A European team including clinicians from the Institute of Myology measured motor strength, motor function, and … [Read more]