Liver health issues in X-linked myotubular myopathy and centronuclear myopathies have historically been under-recognized, with liver monitoring not a …

Background This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia condition...

Genome sequencing can help diagnose patients with rare diseases and unexplained diseases, but many patients can’t access this genetic test. Lack of knowledge and awareness among both clinicians and patients is one of the barriers to access. Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups...

We connect a community of more than 110,000 people living with one of over 60 muscle wasting and weakening conditions, and all the people around them. So everyone can get the healthcare, support and t...

The FSHD Society offers investigator-initiated research grants to support basic, translational and clinical-based research in FSHD.

This free, informative, and supportive session will cover topics relevant to adult care. It is open to people living with myotonic dystrophy and their friends, family and carers.

A pioneering drug for patients with muscular dystrophy has been approved for use in the NHS, as the centre which helped develop it celebrates 10 years of research and improving patient care. The John ...

As the Community Manager at Euan’s Guide, my day job gives me the opportunity to open the world for other disabled people. A key part of my job is to travel up and down the UK and write disab…

The International Day of Disabled Persons aims to promote the rights and well-being of persons with disabilities in all spheres of society and development.