Search Results for fsh

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…

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…

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 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,…

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,…

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…

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…

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…

Facioscapulohumeral muscular dystrophy (FSH or FSHD) is characterised by a selective muscle deficit (muscles of the face, shoulders and arms). This characteristic was an advantage to candidate for evaluating the…

A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated with the Italian National Registry…

• A study compared the self-assessment health questionnaire completed by 131 women and 150 men from the French National Observatory of Facioscapulohumeral Myopathy (FSHD), with the physician’s clinical assessment report including…

In a cohort of 92 people with FSHD1 (n=88) or FSHD2 (n=4), the number of participants with a restrictive syndrome increased from 41 to 48 over five years. Mean vital…

In two decades, the Center for Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD or FSH) in China (Fujian Neuromedical Centre) has collected and followed data from 997 patients with this…

Distinct mutations of the SMCHD1 gene are responsible for a form of facioscapulohumeral myopathy (FSH type 2) but also for an ultra-rare syndrome comprising abnormalities of the olfactory system such…

Facioscapulohumeral muscular dystrophy (FSHD or FSH) is characterized by an aberrant expression of the DUX4 gene. To prevent it, in a gene silencing approach, a therapeutic avenue consists in specifically…

Facioscapulohumeral dystrophy (FSH) is one of the most common myopathies. There are two forms, FSH1 and FSH2. In both cases, the DUX4 gene is abnormally expressed in the muscles.  In…

Dutch specialists were interested in 20 patients with facio-scapulo-humeral myopathy (FSH) aged between 2 and 17 years. Among them were patients with the infantile form of the disease (with onset…

The muscle involvement encountered in facio-scapulo-humeral myopathy (FSH) is sometimes confusing for the clinician because of its high selectivity and its often asymmetric nature. Italian researchers have developed an algorithm…

Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and clinical trials.   The various…