Adults, Health and Wellbeing
Adults, Health and Wellbeing
Your GP or local hospital consultant can refer you to a specialist neuromuscular centre.
- The list of UK Regional Neuromuscular Centres for adults>
- MDUK also has other information about specialist neuromuscular centres in the UK >
This user-friendly guide summarises the key recommendations for care of those who have 5q SMA (Types 1, 2, 3 and 4) as outlined in two scientific articles completed in November 2017 by a committee of international healthcare and patient experts.
The Guide is for adults, young people and for parents and caregivers of children. The group acknowledged there were limited studies that related to adults who have SMA but considered that many of the discussions and recommendations applied to best supportive care for both children and adults.
The key to the most appropriate intervention and care depends critically on the child’s, young person’s or adult’s ‘functional ability’ – whether they can sit, stand or walk; whether their breathing is affected by their SMA; what other daily living activities they can manage. These SoC are therefore for all ages. However, it was agreed there needs to be more work focusing on understanding the impact of SMA over a person’s lifetime and the implications of this for adult supportive care.
As well as this, since publication, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally are constantly reviewing and discussing best care and management practice. This does mean that some recommendations may now be changing. Though the SoC remain a useful reference point for you, your care and the management of your SMA will be very individualised based on your clinical team’s assessment and a full discussion of this with you.
For the complete UK Guide pdf version, please click here.
Some translations are available here.
As SMA causes muscles to get weaker, it affects posture and movement. How much weaker and what effect this has day-to-day is very individual. The support and services people want and get can also vary greatly.
Any support you need would be given to you following an assessment, but if you’ve just started to experience difficulties – or if things change for you – talk to your GP or a member of your healthcare team as you may need your care and management reviewed. You can read more about what this might be in the International Standards of Care: Chapter 3 Physiotherapy and Rehabilitation.
Since publication, however, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations about posture, movement and exercise may now be changing. Though the SoC remain a useful reference point, your care and the management of your SMA will be very individualised based on an assessment by your physiotherapist clinical team and a full discussion with you.
Accessing physio and OT support
To say the least this is in short supply for adults – not just for adults who have SMA but across the board there is not enough NHS funded support to meet the need. It is still though well worth seeking.
If your SMA care is overseen by a specialist NHS neuromuscular centre, you may already have contact with a physio. If not, ask your neuromuscular consultant, or whoever you have contact with in the team, to refer you to the team’s physio or OT.
If your care isn’t currently overseen by a specialist NHS centre or you haven’t got a physio or OT to advise you, you’ll need to ask your GP to refer you – ideally to one of the specialist NHS neuromuscular centres. These are also assessing people who have 5q SMA for drug treatments and are listed here.
Neuromuscular centres provided by Charities:
There are two neuromuscular centres in the UK. Both are charities and both offer physiotherapy, complementary therapies, support and advice to adults who have a neuromuscular condition. The services are free to the user, but you will need to be referred by your GP or consultant. More information is available directly from the centres:
- The Neuromuscular Centre Winsford
Phone: 01606 860 911
The Neuromuscular Centre, Woodford Lane West, Winsford, Cheshire,
The centre covers mainly the North of England and North Wales
- Muscular Dystrophy Support Centre
Phone: 02476 100 770
Hereward College, Bramston Crescent, Coventry, West Midlands, CV4 9SW.
The centre covers the Midlands region.
Further information and resources
As well as checking the SoC, you may find the suggestions in our information sheet helpful: Looking after yourself if you’re an adult who has had a recent diagnosis of SMA.
Muscular Dystrophy UK have published an update of their document – Exercise advice for adults with muscle-wasting conditions. The advice, which was originally produced in 2014, has been updated by some of the UK’s expert neuromuscular physiotherapists working with adults, and provides people with information about the importance of exercise, and how it can be safely carried out.
In November 2023, Maxwell (a young adult who has SMA Type 2) and Robert Muni Lofra (Consultant Physio) discuss what exercises work for Maxwell. Robert talks about how the way a person’s SMA affects them, the experiences they have had of trying different exercises, and how physically active they are able to be, all need to be taken into account when a physio recommends an exercise plan:
Difficulties with eating and diet are more common for people who are unable to sit without support (‘non-sitters’) or people who are able to sit but not walk (‘sitters’) but aren’t so common for people who can walk (‘walkers’). They don’t happen to everyone – as always with SMA, everyone’s different.
Summary of why People May Have Difficulties With Eating & Diet
SMA can cause weakness in swallowing muscles and affect how easily food moves through the digestive system. Eating difficulties can either mean someone doesn’t get enough food and becomes underweight or, because their muscle weakness makes it difficult to exercise, they can become overweight. Extra weight can increase the stress on muscles, bones and joints, making physical activity and breathing even more difficult.
Due to weak muscles caused by their SMA:
- some people have problems with reflux (which can feel like an uncomfortable burning sensation in the chest or throat);
- some people can be sick after eating; some people can have difficulty with constipation. This can lead to feeling uncomfortable and a fullness in the stomach that reduces the movement of the diaphragm (the dome-shaped muscle below the lungs that’s important for breathing in) which in turn can make it more difficult to breathe and cough. Some people may also have problems with their ability to break down foods to produce energy (their metabolism). They may have high or low blood sugar and / or problems with breaking down fat.
If you’re a sitter or non-sitter you may have difficulty swallowing safely. If you do, this can feel frightening and may mean you’re at risk of ‘breathing in’ food or drink (aspiration) which can make you choke and possibly cause a chest infection.
Care and Management
Conversations with Healthcare Professionals: In 2023, Maxwell (a young adult who has SMA Type 2) spoke to Dr Graeme O’Connor (Research Lead for Dietetics at GOSH) about diet and nutrition in SMA:
SMA Europe: In 2022, SMA Europe ran workshops on nutrition in the spotlight of SMA care. You can watch the videos on their YouTube channel.
Any support you need would be given to you following an assessment, but if you’ve just started to experience difficulties – or if things change for you – talk to your GP or a member of your healthcare team as you may need your care and management reviewed. You can read more about what this might be in Chapter 5 Nutrition, Growth and Bone Health of The 2017 International Standards of Care for SMA.
Since publication, however, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations about eating and diet may now be changing. Though the SoC remain a useful reference point, your care and the management of your SMA, will be very individualised based on an assessment by your clinical team and a full discussion with you.
The possible impact of SMA on the spine, hips and bones (orthopaedic problems) may be all too familiar to you and may have been a reason for any number of orthotic and surgical interventions you’ve had over the years. For others, this won’t be the case.
Summary of the Impact SMA Can Have On Your Spine, Hips & Bones
Because SMA causes muscles to get weaker, people with SMA can also have problems with the bones that are supported by the muscles (orthopaedic problems). SMA can weaken the muscles that support the spine which, without this support, can be pulled by gravity and curve. It’s estimated that as they grow, 60-90% of ‘non-sitters’ and ‘sitters’ develop a spinal curvature, as do 50% of ‘walkers’. When the spine curves sideways into a “C” or “S” shape it’s called a scoliosis. When the spine bends forward it is called a kyphosis. At the same time as the spine curves, there are changes to the chest wall and rib cage which reduce the space available for the lungs to grow and for breathing.
Weakening muscles can also mean that some people who are ‘sitters’ and ‘walkers’ have ‘unstable hips’. How much muscles weaken and what effect this has on anyone’s spine and hips day to day is very individual.
As people who are ‘non-sitters’ and ‘sitters’ aren’t able to use bones and muscles as much as someone who can walk, they can be more at risk of bone fractures due to osteoporosis (when bones are weaker and more likely to break).
Care and Management
Any support you need would be given to you following an assessment, but if you’ve just started to experience difficulties – or if things change for you – talk to your GP or a member of your healthcare team as you may need your care and management reviewed. You can read more about what this might be in Chapter 4 Orthopaedic Management of The Guide to the 2017 International Standards of Care for SMA.
Since publication, however, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations about care of spine, hips and bones may now be changing. Though the SoC remain a useful reference point, your care and the management of your SMA, will be very individualised based on an assessment by your clinical team and a full discussion with you.
What’s possible for me?
The two treatments currently potentially available for adults are nusinersen (Spinraza™) and risdiplam (Evrysdi™). You may find the information in our summary guide Drug Treatments for Adults in England useful, no matter where you live.
If you’re already enrolled with a Specialist Neuromuscular Centre, you can make an appointment for an assessment and talk through which option might be best for you with your clinical team. If you’re not being seen at one of these Centres, you’ll need to ask your GP to make a referral. Please check the pages in the links to see where these are as not all Centres provide these treatments.
What experiences have others had?
The impact of SMA is very different for each person, as is the response to any treatment, so what is suitable for you and what outcomes you may expect, always need to be discussed with your own specialist team, and any decisions made jointly with them.
You might, though, still be interested, and find it useful, to hear from others about, for example: what they have chosen; how they made their decision; what having that treatment is like; what difference it’s making for them. There are many people posting on Facebook, Instagram, blogs and vlogs about their experiences of Spinraza™ and risdiplam. There are also some groups specifically focusing on, for example, experiences of risdiplam.
In this podcast, recorded in July 2021, Martyn Sibley talks to Emma, Ross and Olivia about their first experiences with Risdiplam:
For some adults diagnosed with SMA in early childhood, healthcare by an expert team at a specialist neuromuscular centre transfers smoothly over to adult services and continues regularly (often annually). If SMA continues to impact health significantly, specialist appointments and hospital stays may be frequent. For others, it’s not uncommon to have less to do with the health service or to no longer be under the care of a specialist centre – this can happen for any number of reasons, including just wanting to get on with life. Some adults whose symptoms appeared later as a teenager or in adulthood may, once they’ve had a diagnosis, have only had the occasional appointment and check-up since then, or even slipped out of the system completely, with no specialist contact.
If you no longer see any specialists but things have changed for you and you feel you would like to talk with someone and be seen, contact your GP and ask for a referral to the neuromuscular service at your nearest adult specialist centre.
The SoC also recommend that anyone with SMA should have an Emergency Healthcare Plan (EHP) – a written plan of action that any medical team can follow if you become unwell. It’s best to agree your plan while you’re well. What’s in it will depend on the impact your SMA has on you. You can find more information about what should be in there in Chapter 9 Emergency Care of A Guide to the 2017 International Standards of Care for SMA
Though care and management of SMA has made a huge impact on people’s quality of life and life expectancy, some people who have SMA remain vulnerable to the potential for life threatening illness and complications.
An Anticipatory Care Plan (ACP) or Advance Care Plan sets out what actions should be taken if a person’s condition changes in this way. It may include:
- An advance statement – of wishes, preferences and priorities, and may include nomination of a named spokesperson
- An Advance Decision to Refuse Treatment (ADRT)
- Nomination of a Lasting Power of Attorney (LPA) for health and welfare who is legally empowered to make decisions up to, or including, life sustaining treatment on behalf of the person if they do not have mental capacity at the time, depending on the level of authority granted by the person.
- Context-specific treatment recommendations such as emergency care and treatment plans, treatment escalation plans, cardiopulmonary resuscitation decisions, etc.
Advance Care Planning discussions can occur over time, between people and those important to them, such as family, friends, people in their communities as well as with health and care professionals.
For more information, talk to your clinical team or have a look at some of the following: