Search Results for: fsh
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for 16% of them and the need, for 25%, to adapt the way they eat to get round these problems, constipation, bladder problems, abdominal pain, etc. … [Read more]
FSHD: searching for the ideal biomarker
British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD): in view of the disappointing and/or contradictory results of studies of DUX4 gene expression in FSHD myopathy, the researchers focused their attention on genes repressed by PAX7, another gene involved in myogenesis and also interacting with DUX4, … [Read more]
Are muscle imaging techniques for FSH equivalent?
Italian researchers have compared the respective qualities of quantitative ultrasound and nuclear magnetic resonance (MRI) in the context of the imaging evaluation of facioscapulohumeral muscular dystrophy : thirteen patients were included in the study, in addition to clinical data, the primary endpoint was the quantitative ultrasonic score (QMUS) applied to six muscles in particular (pectoralis, … [Read more]
Vitamin and mineral deficiencies in FSH
A study of the nutritional status of 159 patients with facioscapulohumeral myopathy (FSHD), 74 women and 85 men, revealed : a varied and balanced diet, albeit with deficiencies in minerals and vitamins, mainly zinc and vitamins C and E, deficiencies in daily energy and protein intake were also reported, lower intakes of vitamins and minerals … [Read more]
Results of a survey conducted by FSHD Europe
The results of a European survey on the expectations of clinical trials of 1147 people with facioscapulohumeral myopathy living in 26 European countries including France showed that : respondents to the survey are mainly people with FSHD1 (68%) against 7% with FSHD2, the others not having a genetic diagnosis; they are on average 50 years … [Read more]
A new genomic sequencing technique for the diagnosis of FSH
The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is challenging due to the existence of complex alterations in the 4qter chromosomal region and the genetic heterogeneity of the disease (FSHD1, FSHD2). Hypomethylation, which also plays an important role in the pathophysiology of this condition, is difficult to measure routinely. A new technology, based on the … [Read more]
Higher incidence of gastrointestinal cancer in FSHD?
A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal) would be higher in FSH, from the age of 40 years, and not dependent on the length of the D4Z4 repeats, an absence of significant difference for other, non-gastrointestinal cancers … [Read more]
A new imaging tool to assess FSH
Facioscapulohumeral muscular dystrophy (FSH) has recently entered the era of therapeutic trials with several innovative molecules in clinical development. An international consortium of researchers has developed innovative techniques and algorithms to study the topographic and evolutionary aspects of muscle degeneration. Seventeen adults with FSH participated in this study, which consisted of whole-body muscle imaging (WB-MSK-MRI) … [Read more]
A functional scale to assess facial muscle involvement in FSH
Facial muscle involvement is part of the classic description of facioscapulohumeral myopathy (FSH), including deficits of the orbicularis of the lips and eyes. Dutch researchers have developed a new scale to assess the importance and functional impact of this condition: preparatory work with the patients themselves concerning their experience of the disease in this region … [Read more]
The first participant with FSH was included in the REACH phase III trial of losmapimod
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial of losmapimod will evaluate its safety and efficacy over a 48-week period. The trial is randomised, double-blind and placebo-controlled and is expected to enrol 230 adult participants with FSH1 or … [Read more]
