Search Results for: fsh

The last congress of the FSHD Society took place on June 24 and 25, 2021

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 presentations provided an opportunity to discuss in particular: the development of a new FSH mouse model: it can express very low levels of DUX4 under … [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]

FSHD: a new european network for clinical trials

On the initiative of FSHD Europe association, in which the AFM-Telethon is involved, a European network of clinical trials in FSH has just been created with the aim of connecting European clinicians involved in FSH and to facilitate the setting up of future clinical trials, to make future treatments more accessible, etc. This network is … [Read more]

A large Italian cohort confirms the complexity in interpreting borderline FSHD genotypes

Facioscapulohumeral muscular dystrophy (FSHD) affects 4.5 per 100,000 people in Europe. It typically manifests as muscle weakness with a specific pattern, since it affects the muscles of the face and those around the shoulder blades. The most common form, FSHD type 1, is the result of contraction of the repeated D4Z4 units in the 4qA … [Read more]

More or less promising new therapeutic approaches in FSH

Facioscapulohumeral myopathy (FSH) results in progressive damage to the muscles of the face, the fixators of the scapula, the muscles of the trunk and the levator muscles of the feet. There are two types, FSH1 (95% of cases) and FSH2 (5% of cases). In both types, the DUX4 gene is abnormally expressed. It encodes the … [Read more]

A new study confirms high incidence of retinal damage in FSH

Facio-scapulo-humeral myopathy (FSH) is a genetic disorder that affects about 3,000 persons in France, it is one of the most common muscular dystrophies in adults. There are two types (FSHD1 in 95% of cases, and FSHD2) genetically distinct but both due to the aberrant expression of the DUX4 gene, toxic to skeletal muscle. Selective muscle … [Read more]

FSH1: a 5-year observational study

The vast majority (95%) of patients with facio-scapulohumeral myopathy (FSH) have type 1 (FSH1) which is linked to a reduction, on chromosome 4, in the number of D4Z4 repeats, between 1 and 10. FSH1 is characterized by high clinical variability between patients and within families. Its course is therefore difficult to predict, especially since few … [Read more]

Muscle damages caused by FSH2 are better understood

Facioscapulohumeral myopathy (FSH) is characterized by progressive involvement of the muscles of the face and the shoulder girdle, then the muscle of the legs and trunk. FSH1, (95% of cases) due to a decrease in the number of repeats of a D4Z4 sequence, located on chromosome 4, is different from FSH2 (5% of cases), linked … [Read more]

FSH combined with Williams-Beuren syndrome: a probably non-fortuitous association

Facioscapulohumeral muscular dystrophy (FSH) is one of the most common myopathies and affects people of all ages. Inherited as an autosomal dominant trait, it results in a selective muscle deficit that preferably affects the face, shoulder blades, trunk and ankles (drop foot). There are two forms, FSH1 and FSH2, depending on the genetic mechanism involved. … [Read more]

Genetic abnormalities in the gene LRIF1, a rare cause of FSH2?

Facio-scapulo-humeral muscular dystrophy (FSH) is characterized by a relaxation of chromatin as well as a decrease (hypomethylation) of DNA in the D4Z4 region of chromosome 4, causing the expression of the DUX4 gene which codes for the eponymous transcription factor. Two forms of FSH: type 1 FSH (in 95% of cases) linked to a decrease … [Read more]