Search Results for: fsh

Acceleron abandons development of ACE-083 in FSH

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 efficacy of ACE-083, a molecule developed by the Acceleron laboratory, which, when administered intramuscularly, has a local anti-myostatin action. In 2016, a phase II clinical … [Read more]

A major 13-year study of preconception counselling and prenatal diagnosis in FSH

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 of Facioscapulohumeral Myopathy (FSH) showed that : 60 couples requested a preconception consultation for FSH, which highlighted at least one of the future parents with … [Read more]

Are patient and physician assessments consistent in FSHD?

• 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 the same items. • The analysis was carried out on 39 items separated into seven categories: diagnosis, demography, muscle function, etc. • The comparison of the evaluation … [Read more]

FSHD: respiratory impairment is usually stable but should be closely monitored in severe progressive forms

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 capacity (VC) decreased from 79% to 76.7%, with individual variations ranging from a decrease of 33.5% to an increase of 23.6%. The Tiffeneau coefficient increased … [Read more]

One thousand patients were genetically diagnosed with FSH in China between 2001 and 2020

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 myopathy and from 620 families. Their analysis shows that: on average, the number of D4Z4 repeat units is 5 (1 to 9 depending on the … [Read more]

Not all SMCHD1 gene variants give an FSH-compatible phenotype

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 as arhinia, nasal hypoplasia or anosmia. American researchers collected clinical and genetic data from eleven patients with the latter syndrome: only three had a genotype … [Read more]

A natural microRNA spiked with small molecules to knock down DUX4 in FSHD

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 binding the messenger RNA of DUX4 to synthetic RNAs of the complementary siRNA or miRNA type.  In the United States, a team of gene therapy … [Read more]

Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective

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 an effort to inhibit DUX4, Canadian researchers have optimized antisense oligonucleotides by coupling them to a peptide that favors their penetration into muscle cells. This optimized … [Read more]

A natural history study in a population of children with FSHD

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 before the age of 5). The patients were followed at the functional level but also by muscle imaging for two years:  if the disease progresses … [Read more]

A machine learning module for the diagnosis of FSH

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 based on muscle MRI images from 187 patients with FSH and compared to those in a control group: the combination of a precociously affected trapezius … [Read more]