Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of MD. It affects all genders. Males are likely to experience more severe symptoms at an earlier stage. FSHD is caused by a genetic mutation which deletes some of the DNA on chromosome 4. This switches on a gene which is toxic to muscles.

Facioscapulohumeral muscular dystrophy (FSHD) is a muscle wasting condition caused by a genetic mutation, which switches on a gene that shouldn’t normally be switched on. The name describes the areas where FSHD usually causes weakened muscles: ‘humeral’ = upper arm. Sometimes the lower legs can also be affected.

Autosomal dominant Facioscapulohumeral Muscular Dystrophy (OMIM 158900) is the third most common myopathy with an incidence of approximately 1 in 20,000. Affected individuals show progressive weakness and asymmetrical atrophy of facial, shoulder and upper arm musculature.

2025年2月28日 · The landmark first-in-human trial is investigating if a targeted gene modifying therapy can be safely delivered to the muscle and alter the underlying cause of facioscapulohumeral muscular dystrophy (FSHD). Patients either receive the drug or a placebo.

2025年3月2日 · The study, run by Sheffield Teaching Hospitals NHS Foundation Trust, involves the use of a drug which targets the gene thought to trigger muscle weakness in FSHD patients, potentially slowing the ...

2016年5月9日 · Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for trial-readiness.

Sensorineural hearing loss is associated with FSHD, especially in patients presenting in infancy. Retinal telangiectasia is a very rare feature in FSHD which may give rise to problems with vision. There is no specific anaesthetic risk - unless there is …

The UK has an excellent reputation for high quality FSHD clinical services, research teams and the established UK FSHD Patient Registry. These accomplished UK centres were mainly working in their own areas without an overarching strategy or central co-ordination.

The aim of this study is to identify what a feasible, acceptable and deliverable as intended “best-practice” conservative non-pharmacological management for people with FSHD should include. FSHD is the third most common muscular dystrophy. FSHD is non-life limiting and most often presents in the second decade of life.

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for tria …