Looking After Yourself if You're an Adult who has had a Recent Diagnosis of SMA

What’s in these pages?

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This guide is for adults who have had a recent diagnosis of an adult onset form of SMA. It’s designed to be used alongside medical advice which should always come from a member of your medical team.

These pages include:

  • Getting a diagnosis
  • Posture, movement and exercise
  • Breathing and diet
  • Fatigue and pain
  • Emotional support


Getting a diagnosis

SMA Type 4, the more common form of adult onset SMA, is most often diagnosed in early adulthood. There are other forms of adult onset SMA with different causes. The impact of adult onset SMA varies greatly between individuals.

Getting a diagnosis of SMA Type 4 or other form of adult onset SMA can take time as the symptoms of SMA can seem similar to the symptoms of other neuromuscular conditions. Waiting for appointments, test results and a diagnosis can be very stressful. If you’re concerned about your symptoms, have had some tests but have not been referred to a consultant neurologist, you might want to request a referral from your General Practitioner (GP).

Possible tests are:

  • an electromyogram (EMG) which shows if the nerve supply is diminished
     
  • a muscle biopsy which shows if there is any reduction in muscle cells
     
  • an MRI (Magnetic Resonance Imaging) scan which produces detailed images of the inside of the body
     
  • a CT (Computerised Tomography) scan which is another way of producing detailed images of the inside of the body
     
  • a range of blood tests, including a blood sample for DNA testing

Even with all these tests it’s not always straightforward to say exactly what neuromuscular condition an adult has, though a specific diagnosis of SMA Type 4 can be made following DNA testing.

The most common form of SMA is also known as 5q SMA due to its genetic cause. 5q SMA includes SMA Type 4. If you have been diagnosed with SMA Type 4, you may also want to read:

  • What is Spinal Muscular Atrophy 
  • Symptoms, diagnosis and effects of SMA
  • Genetics of SMA

You can find these here.

Please remember when you read this guide that the impact of Adult Onset SMA varies greatly between individuals and may change over time.

 

If you have been diagnosed with:

  • Distal SMA Type 5 (DSMA V)
  • Spinal Bulbar Muscular Atrophy (SBMA) – Kennedy’s Disease

You may also want to read information here.

 

I’m worried about my movement and mobility

This is very understandable, and you’ll want to maintain as much movement, mobility and independence as you possibly can. An individualised exercise programme guided by a qualified practitioner can help you do this.

Unfortunately, the availability of appropriate services to support you varies greatly depending on where you live. In some areas people have access to the services of a neuromuscular centre where specially trained physiotherapists can set up a programme for you. Where these services are not available, your GP can refer you to a physiotherapist (physio).

To set up your personal programme, a physio will need to understand your medical history and get a picture of your joint range, muscle power and what you’re able to do. You would then need to be seen at regular intervals to check how you’re getting on.

An exercise programme would include:

  • Stretching exercises

It’s rare for people with adult onset SMA to be unable to walk, but if walking is becoming difficult this is due to a combination of muscle weakness and a reduced ability to move some joints that may become tight (contractures)1. The most affected muscles and joints are: tendon / achilles (heel), hamstrings (back of thigh), hip flexors (front of hip and thigh) and hip abductors (outside of thigh). You may also experience muscle weakness / tightness in your shoulders, arms and fingers. If your joint tightening is on one side it can lead to poor posture, cause you discomfort, and in later stages can limit your day-to-day ability. Daily stretching can help this.

When stretching you may feel tension or pulling; but stretches shouldn’t be painful. If they are, do talk to your doctor or physio.

You may enjoy exercising in the bath, a swimming pool, or, if one is available in your area, a hydrotherapy pool as warm water can make muscles easier to stretch. Swimming is a good general exercise that can help to maintain muscle condition without causing muscle damage or over-exercising. Talk to your physio about doing this safely and for information about your nearest facilities. Most public pools have standard disabled changing facilities, but if these don’t meet your needs your physio or occupational therapist (OT) may be able to advise.

  • Exercises for posture, standing, balance, muscle strength and control

Good posture is important for the body and muscles to work effectively; this applies to both sitting and standing.

Posture exercises often involve working on the muscles in the abdomen which help maintain good posture and balance – often called ‘core stability’. Having good balance helps prevent falls.

Standing is also a very important part of a physical management programme for many individuals with neuromuscular conditions, even if you’re unable to walk independently. Your physio may suggest you try a standing frame which encourages equal weight bearing through both legs and can help prevent and reduce contractures. Straps can be used to help stretch feet, knees and hips and reduce asymmetry and tilting of the pelvis, which can lead to curvature of the spine (scoliosis).

Regular standing also promotes normal bodily functions, for example kidney drainage, and reduces calcium loss in bones.

  • Exercises to improve cardiovascular fitness and stamina

You’ve no doubt heard the phrase ‘use it or lose it’; inactivity can further limit mobility which is why fitness is important. Physical activity is also good for maintaining psychological health and well-being and is important even if you have limited mobility. You might want to try swimming or adaptive sports as ways to keep fit. Check with your doctor and physio what types and intensity of exercise might be suitable for you; they should also be able to tell you about local centres and organisations that you could try.

‘Exercise advice for adults with muscle-wasting conditions’ is a leaflet available from Muscular Dystrophy UK. You can request a copy by phoning 0800 652 6352 or you can download it from their website: here.

 

‘Doing Sport Differently’ is a guide available from Disability Rights UK. You can request a copy by phoning 0207 250 8181 or you can download it from their website here


Will I need a special diet?

A healthy diet is important for everyone. If needed, your GP or consultant will be able to refer you to a dietitian to provide you with advice and support on eating and nutrition.

Reduced mobility and lack of regular exercise can be a factor for why some people becoming overweight. Extra weight can increase the stress on muscles, bones and joints, making physical activity even more difficult. If this is happening to you, a dietitian will be able to provide advice on a healthy diet that will suit your needs.

Adult onset SMA rarely causes difficulty with chewing and swallowing, though this may happen with Kennedy’s Disease. Your medical team will provide you with advice and support with this if necessary.
 

Will I have pain and tiredness – how can I manage this?

People with adult onset SMA sometimes report experiencing pain and fatigue. This can happen because of overusing some muscles to try and compensate for the weaker ones. If this does happen to you, a physio may be able to help you manage better and your GP might be able to prescribe you suitable medication for pain relief.

It’s important to sit and lie comfortably so that your muscles and joints can relax. You might find it helpful to use pillows to support certain muscles. Your physio would be able to advise you how to do this so that your muscles relax.

A hot water bottle, heat pad, or a microwaveable heat bag can help relax muscles and a cold pack can also be used for pain relief.

Regular exercise may help with pain but please speak to your physio for advice on what will work best for you.

You can help to manage fatigue by pacing yourself and preventing your body from becoming overly tired. Regular exercise will help you to optimise your physical ability and understand your limits better. Your physio would be able to advise you on strategies to help with fatigue.

Some people with adult onset SMA have told us that they find meditation and mindfulness helpful in managing pain and fatigue. There is now a wide range of information available on these subjects both on the internet and in libraries.


Will my breathing be affected?

Adult onset SMA doesn’t usually cause problems with breathing but it can be useful to learn breathing exercises and effective coughing for your general health and well-being. This will help if you have a chest infection or breathing difficulties. Your physio will be able to provide you with advice on this.
 

Is there treatment specifically for SMA Type 4?

Currently, no drug treatments are available or funded by the NHS in the UK for people who have been given the clinical classification / diagnosis SMA Type 4. This is in large part due to there being no clinical trials of either of the two possible drug treatments for adults who have 5q SMA (nusinersen and risdiplam). Access to these treatments is only possible in the UK for those who have a clinical 
diagnosis of SMA Type 1, 2 or 3 and who meet other eligibility criteria. Stabilisation of the condition is regarded as a positive outcome of a treatment for those who have lived with the condition for a long time.

In some countries regulatory authorities have approved access for all who have 5q SMA. Access may also depend on how distinct the ‘onset of symptoms’ age boundary is considered to be between Type 3b and Type 4.

Diagnosis of SMA Type 4 should include a careful review of the history and age at which the person first experienced an onset of symptoms.

SMA UK and many clinicians have advocated for access to treatment for those who have SMA Type 4 in the UK and will continue to do so.
 

Should I keep taking medications for other conditions I have?

If you’re already on, or have been newly prescribed, medication for your health (separate to your SMA), it could be useful to check with your consultant how these might interact with your SMA. 
 

This all feels so overwhelming, who can I talk to?

Though it may come as some relief to actually have a diagnosis, having adult onset SMA and learning to live with the condition may have a significant impact on you and your family. It’s important that you have emotional support and plenty of time to talk and ask questions. This can be with your consultant, your local GP, a social worker, psychologist or a counsellor. You might also want information, advice and support on topics such as mobility, equipment, work, driving and financial assistance. You can find out more by talking to your healthcare team, SMA UK and the other people and agencies listed below.

 

Support and Resources

The International Standards of Care for Spinal Muscular Atrophy (2017) can be read / downloaded from here.

SMA UK
Phone: 01789 267 520
Email: supportservices@smauk.org.uk
Website: www.smauk.org.uk

We provide a free Support & Outreach Service for families by email, phone, text and outreach home-visiting. Our experienced team offer personalised support and information and are available to answer questions and talk things through. Though we don’t give medical advice, we can discuss with you the support you and your family can access.

If you're wondering about an aspect of life with SMA, we hope the Living With SMA area of our website will be a helpful starting point, giving you useful information and ideas. It builds on knowledge and advice from the SMA Community and SMA UK's Support Services Team, and covers a whole host of topics, including: health & wellbeing, equipment, homes, education, work, transport, leisure, holidays, financial, and emotional and social support: www.livingwithsma.org.uk 

You may also find some of our podcasts and webinars interesting – there are always more in the pipeline – and there may be events on offer. Find out more on these pages.

You can keep up to date about these, new research developments and much more by signing up for our monthly E-news.
 

Muscular Dystrophy UK
Phone: 0800 652 6352
Email: info@musculardystrophyuk.org
Website: www.musculardystrophyuk.org

MDUK provide information, support, advocacy services and grants towards specialist equipment for people affected by a range of neuromuscular conditions.

 

Neuromuscular centres:

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
    Website: www.nmcentre.com
    The Neuromuscular Centre, Woodford Lane West, Winsford, Cheshire, CW7 4EH.

    The centre covers mainly the North of England and North Wales.
     
  • Muscular Dystrophy Support Centre
    Phone: 02476 100 770
    Website: www.mdsupportcentre.org
    Hereward College, Bramston Crescent, Coventry, West Midlands, CV4 9SW.
    The centre covers the Midlands region.

 

Version 2
Author: SMA UK Information Production Team
Published: September 2018
Last updated: March 2022

Full review due September 2021 (started)

 

References

1. Skalsky, A.J. and McDonald, C.M. (2012) ‘Prevention and management of limb contractures in neuromuscular 
diseases’, Physical Medicine and Rehabilitation Clinics of North America, 23(3), pp. 675-687.

 

We are grateful to the writers and reviewers who assist us in our information production. A list of who this includes may be requested from office@smauk.org.uk 

Whilst every effort is made to ensure that the information in this document is complete, correct and up to date, this cannot be guaranteed and SMA UK shall not be liable whatsoever for any damages incurred as a result of its use. SMA UK does not necessarily endorse the services provided by the organisations listed in our information sheets.

If you have any feedback about this information, please do let us know at: office@smauk.org.uk