We're calling for better understanding of neuromuscular conditions to speed up referral and improve vital support

22 May 2024

Findings from our recent survey reveal that people living with a muscle wasting or weakening condition are often misunderstood by healthcare professionals and are not referred at the earliest opportunity to specialist services.

At the end of 2023 we launched two surveys – one for people living with a muscle wasting and weakening condition and one for people supporting a person living with a condition. Nearly 700 of you shared your experiences and raised issues. We’re so grateful to everyone who took part.

The study reveals possible signs of rare and progressive conditions are often missed and not investigated. Due to complex diagnosis process, we know how essential a speedy referral is to get access to vital healthcare and treatments as quickly as possible.

Sharing your voice – what you told us

Just under half of you (47%) faced being misdiagnosed at some point, with it taking four or more meetings with healthcare professionals for the majority (55%) of you to get a diagnosis. A significant majority of you (69%) waited in excess of a year to receive a diagnosis.

The findings highlight the need to improve knowledge and understanding of neuromuscular conditions to ensure people are referred, as early as possible to a specialist neuromuscular team, to receive the right diagnosis and start on an appropriate care pathway to get the support and any available treatment required.

84% of you highlighted the need to increase understanding and awareness of muscle wasting and weakening conditions among non-specialist neuromuscular healthcare professionals as a key priority. With 56% of you highlighting that access to healthcare should be a further area of focus.

Showing a lack of understanding of muscle wasting and weakening conditions within non-specialist neuromuscular healthcare professionals, either at the initial stages of a diagnosis or at different touch points throughout the management of the condition.

Improving knowledge and understanding

Our Chief Executive Catherine Woodhead said: “When you are living with a progressive condition that can affect vital muscles such as the heart and lungs, it is essential that you get a diagnosis quickly. We know that neuromuscular conditions cover an incredibly wide range of rare and progressive conditions. The diagnosis journey is complex and it can take multiple appointments. It’s therefore crucial that we improve the understanding and knowledge of non-specialist neuromuscular healthcare professionals to ensure the referral process is quick and efficient to reduce the number of people being misdiagnosed.

People must be able to access the right support, management – and where available, treatment. Allowing people to remain independent, doing the things they enjoy for longer and more easily.”

Mother of two, Naomi Little, 26, from Swindon, has had severe scoliosis, since she was a child. Whilst 18 weeks pregnant with her eldest son, she discovered she had muscular dystrophy. Frankie, now age three, and Freddie, two, also have the same condition.

Despite receiving years of care for scoliosis, muscular dystrophy had never been discussed. Naomi, who has received vital support from the charity after calling their free helpline, agrees that more needs to be done to raise awareness.

She said: “I’d had five miscarriages prior to falling pregnant with Frankie, it felt like a miracle. Everyone says having a child changes your life, but for me that was true in more ways than one.

“During a routine pregnancy appointment, they suspected it was more than scoliosis. I was later diagnosed with Bethlem Myopathy. The consultant said it was likely Ullrich muscular dystrophy, but as I was being diagnosed as an adult, they couldn’t label it as that condition.

“It was shocking, I’d gone my whole life without knowing. We learnt Frankie would have a high chance of having the condition and they offered us an abortion. After the birth of both boys, we had to spend months in hospital due to different complications. The boys are so alike in many ways, but Ullrich has presented quite differently in them.”

What we’re calling for

We work with the NHS and the muscle wasting and weakening community to broaden knowledge and understanding of the different conditions and improve access to treatments. We’re calling for improvements to be made, so people get a faster diagnosis and are better equipped to access appropriate healthcare sooner.

We provide a range of resources and awareness raising opportunities for non-specialist neuromuscular healthcare professionals, including an e-learning resource for General Practitioners, events, webinars and conferences and connections to local specialist services through its Regional Neuromuscular Networks.

Learn more about the findings from the survey.

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