Building better support for families affected by Congenital Myasthenic Syndromes

Congenital myasthenic syndromes (CMS) affect how nerves communicate with muscles. People with CMS experience muscle weakness and fatigue, often beginning in infancy or early childhood.

Following diagnosis, many families report feeling unsure where to find reliable support and information. Resources are often spread across hospital leaflets, charity websites, social media and peer-support groups, making it difficult for families to know what information they can trust, or which support is most helpful.

This project is focused on better understand the counselling, information and support needs of people living with CMS and their families. Researchers will look at what is already known about the experiences and needs of families affected by CMS and related neuromuscular conditions, such as Duchenne muscular dystrophy (DMD).

The study will also look into what resources already exist to understand how useful they are for families living with CMS.

Sandhya Rai and the team plan to:

• Identify and review the support and information currently available to families affected by CMS.
• Understand the emotional, practical and informational support families affected by CMS need most.
• Assess how accessible, relevant and useful existing resources from the NHS, charities and online platforms are for families.
• Identify gaps where families feel unsupported or where resources are lacking.
• Produce clear recommendations to guide the future development of a Family Empowerment Toolkit aimed at improving quality of life.

By identifying gaps in current support and highlighting what families find most valuable, the project will provide the evidence needed to guide the future development of a CMS Family Empowerment Toolkit. The long-term aim is to improve access to clear information, emotional support and practical guidance for families affected by CMS, helping them feel more informed, supported and empowered in managing the condition.