Skip to content

MDUK's Response to the England Rare Diseases Action Plan

3 March 2022

On Monday 28 February, the Department of Health and Social Care (DHSC) published the England Rare Diseases Action Plan, which builds on the UK Rare Diseases Framework published in January 2021. MDUK welcomes the action plan, which shows great promise in improving care for people with neuromuscular conditions.

The England Rare Diseases Action Plan is the first of four action plans, which will cover each of the four nations within the UK. It sets out 16 specific actions for the third year ahead, to achieve the four main priorities in the UK Rare Disease Framework:

  • helping patients to get a final diagnosis faster
  • increasing awareness of rare diseases among healthcare professionals
  • ensuring better coordination of care
  • improving access to specialist care, treatments and drugs

In September last year, MDUK took part in a series of roundtable discussions with the Rare Diseases Coalition, alongside clinical experts, professional bodies, other patient groups and industry across the UK. The group, led by Public Policy Projects and Genetic Alliance UK, then set out key recommendations for the government to include in their action plans to improve rare disease care. 

MDUK was pleased to see alignment with the recommendations from this discussion, along with several recommendations from our 2021 report Shining a Light: the impact of COVID-19 and the future of care for people with a muscle-wasting condition. We were particularly encouraged to see a focus on the following areas, which we believe will improve care and support for people with a muscle-wasting condition:

  • newborn screening: the UK National Screening Committee, who decides which disease areas to screen for, will be reviewed to ensure they have a broader remit and improved collaboration with research and stakeholders. It is our hope this will improve the timeliness of adding conditions to the screening programme, including spinal muscular atrophy (SMA)
  • increasing awareness among healthcare professional development resources. This will ensure a wider array of healthcare professionals are either able to better support people with a rare disease or ensure more accurate referrals are made so that these patients see the right person more quickly. 
  • increasing collection on rare disease data to improve understanding on prevalence and changes in care needs for people with a rare disease. Much like recent MDUK-Funded research that found 110,000 people now live with muscle-wasting conditions, this type of data will foster a better understanding of the needs of people with specific rare diseases. In turn, this will ensure that care can be adapted to suit changing needs for those with rare diseases.
  • new digital tools and technology that have the potential to support care coordination and enable patients to access services remotely. This can be particularly beneficial for those living far away form a specialist centre.
  • improving roll out and access to treatment, including improving communication to understand what stage a treatment is at, when being reviewed, for approval, and mapping uptake of newly-approved treatments to reduce delays in access due to regional inequalities.

Based on these actions, MDUK hopes to see improvements in the services and access to new treatments for people with muscle-wasting conditions. We’ll review the progress of these actions next year, with the next iteration of the England plan. We’ll continue to engage with the DHSC and the Rare Disease Framework Board to ensure these actions move ahead.

Robert Burley, MDUK Director of Care, Communications and Support, reacted to the release of the plan, saying: 

Implementing these actions will have real, tangible differences for people receiving care for rare diseases, including neuromuscular conditions. This is a significant step in the right direction to raise standards of care, from a clinical perspective, and the best possible quality of life for patients.

If you’d like to find out more about this work or the other campaigning work we do at MDUK, please do get in touch with us at

Join the Muscular Dystrophy UK community

Share your experience and find advice from others with similar conditions.