- Muscular Dystrophy UK voices concerns from the muscle wasting and weakening community in Scotland.
- Study reveals possible signs of rare and progressive conditions are often missed and not investigated.
- Speedy referral is essential due to complex diagnosis process and the urgent need to access vital healthcare and treatments as quickly as possible.
A recent study by Muscular Dystrophy UK reveals 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.
The leading charity for more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions, carried out a survey revealing key insights from the muscle wasting and weakening community.
Just under half of respondents (47%) faced being misdiagnosed at some point, with it taking four or more meetings with healthcare professionals for the majority (55%) of respondents to get a diagnosis. A significant majority of respondents (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.
Muscle wasting and weakening conditions are progressive which means they will worsen over time and lead to an increasing level of disability. Care and treatments available will slow progression but there is currently no cure.
The symptoms of muscular dystrophy, and the age at which onset occurs, will be different in each person.
Common symptoms could include muscle stiffness or pain, changes in mobility, such as difficulty walking, difficulty in lifting things and increased number of falls. Some muscle wasting and weakening conditions can affect the heart or the muscles used for breathing and in some severe cases, the condition may have life-threatening complications, and shortened life expectancy.
84% of respondents to the survey 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 respondents highlighting that access to healthcare should be a further area of focus.
Respondents shared some of their diagnosis journey highlighting: “I was 14 when I knew something was wrong.
“At age 35 I was diagnosed. I was told I was lying and making things up.”
Another respondent said: “My first reported symptoms to my GP I was aged 35, then onwards from that, on a regular basis until eventual diagnosis at 65.
“I had in-patient assessments over those years, and no-one thought to look for Facioscapulohumeral muscular dystrophy (FSHD) even though my sister has it and I always disclosed this in my medical history.”
The findings show 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.
Muscular Dystrophy UK works with the NHS and the muscle wasting and weakening community to broaden knowledge and understanding of the different conditions and improve access to treatments.
The charity is calling for improvements to be made, so people get a faster diagnosis and are better equipped to access appropriate healthcare sooner.
Catherine Woodhead, Chief Executive of Muscular Dystrophy UK 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.”
David Hick was diagnosed with Becker muscular dystrophy in July 2023. Photo credit: Muscular Dystrophy UK
David Hick, 35, a musician who lives in Glasgow, was diagnosed in July 2023 with Becker muscular dystrophy after years of not knowing. Despite having symptoms of fatigue and muscle aches in his teenage years he was told not to worry.
His symptoms progressed, following Covid, and the realisation came when he wasn’t able to continue with his motor trade job, that he had been doing for two decades. He got professional help and was diagnosed. A month after diagnosis, David joined the North Star Programme and is part of a clinical drug trial. David is now looking to move to closer to a specialist neuromuscular centre in Newcastle to ensure he can receive the best possible care.
He said: “Looking back it was apparent that something was wrong, but it was never properly investigated. I was told you’re a fit and healthy person. You’ve got nothing wrong with you. You’re just tall and skinny.
“It affected my mental health when I was in my early twenties, as I questioned why I couldn’t do certain things. Difficulties would come up in everyday life, but I just brushed it off.
“We were renovating our house and I lifted something heavy. As a result, I pulled several muscles, so went to a physio. This was the start of the diagnosis journey. I ended up being diagnosed with a rare and progressive condition. It was like a grenade going off – I’d never heard of muscular dystrophy before.”
Muscular Dystrophy UK provides 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.
Healthcare professionals who wish to access this support can email:
campaigns@musculardystrophyuk.org
For more information about Muscular Dystrophy UK visit musculardystrophyuk.org
or call our free helpline on 0800 652 6352 (open Mon – Thu 10am – 2pm).