Getting a diagnosis of adult-onset SMA can take time. Symptoms often look like those of other neuromuscular conditions. Waiting for appointments and test results can be stressful and frustrating. If you’re worried about your symptoms or have had tests but no further action, ask  your GP for a referral to a consultant neurologist. SMA is a rare , many GPs may not have seen it before.

Possible tests are:

• Blood tests. These can include testing looking for other conditions affecting motor nerves and muscle. They often include a blood sample for DNA testing.
• Neurophysiology testing. These include nerve conduction studies (NCS) and electromyogram (EMG). They are electrical tests performed by a consultant neurophysiologist. They examine the wiring of your nerve and muscle to establish if it is the motor nerves that are affected.
• MRI (Magnetic Resonance Imaging) scan. This produces detailed images of the inside of the body. It can be useful to look at:
  • the spine, for example to see if nerves are trapped
  • the muscles to see the pattern of any changes.
• Muscle biopsy. This is a minor procedure done with local anaesthetics. It allows the muscles to be looked at under the microscope by a neuropathologist. With the recent advances in genetic testing and muscle MRI this is done less often than in the past. But it can be useful in some situations.

A specific diagnosis of 5q SMA Type 4 due to lack of SMN can be made following DNA testing. Also, the genetic panel testing can also identify other causes or SMA. Unfortunately, not all genetic causes can be found with current knowledge.

Finally knowing your condition – and what it isn’t – can bring mixed emotions for you and your family.

Some of the most common reactions people have include:

• Relief – you now know what your condition is.
• Shock
• Anxiety about the future
• Sadness and upset
• Anger or frustration

You may have all, some or none of these reactions. There is no ‘right or wrong’ way to feel. People can experience different emotions at different times. Whatever you’re feeling, it’s very understandable. Don’t forget that as well as your partner, family and friends, there are other people you can turn to for support at any time. The section below on Emotional Support suggests sources of support.

There is a lot of information to take in. You will need to give yourself time to ask your clinical team all the questions you have, as many times as you need to.

It is rare for people with adult onset SMA to be unable to walk. Whatever form of SMA you have, it is important to maintain as much movement and independence as you can. An individual exercise programme guided by a qualified practitioner can help you.

An exercise programme would include:

Stretching exercises

Your muscles and joints may become tight (contractures). The muscles and joints most affected are:

• heel (Achilles tendon)
• back of thigh (hamstrings)
• front of hip and thigh (hip flexors)
• outside of thigh (hip abductors)

You may also experience muscle  tightness in your shoulders, arms and fingers. If your joint tightening is on one side it can lead to poor posture or cause you discomfort. In time this may affect your ability with day-to day tasks . Daily stretching can help this.

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

Good posture is important for the body and muscles to function at their best. This applies to sitting, standing and walking. You may experience muscle weakness in these postural muscles.

Posture exercises often involve working on the muscles in the abdomen. They focus on the deep abdominal muscles. These muscles sit under your “six-pack” muscles. This helps maintain good posture and balance. It is often called ‘core stability’. Having good balance helps prevent falls. Exercise, such as yoga, Pilates and Tai chi can help you maintain standing balance, posture and muscle control.  A physiotherapist will advise you about appropriate exercises.

Your physiotherapist may advise other strengthening exercises for any muscle groups that may be weak.

Standing is very important part for many people with neuromuscular conditions, even those who can’t walk on their own. Your physiotherapist might recommend  a standing aid to assist.

Regular standing also helps normal functions like kidney drainage and reduces calcium loss in bones. It can also help to stretch the muscles in your legs such as your calf muscles.

Exercises to improve cardiovascular fitness, stamina and mental health

It is very important to keep physically active to help keep your muscles as strong as possible. Being less active can have a negative impact on your ability to walk.

Physical activity also helps with mental health, well-being and fatigue. You might want to try swimming or adaptive sports to stay physically active. Check with your doctor and physiotherapist about the right exercises for you. They can also tell you about local centres and organisations to try.

People with adult-onset SMA sometimes report pain and muscle fatigue. This can be due to overusing some muscles to try and compensate for the weaker ones. If this happens to you, a physiotherapist may be able to help you manage better. Your GP might be able to prescribe suitable medication for pain relief.

It’s important to sit and lie comfortably so that your muscles and joints can relax. It might help to use pillows to support certain muscles. Your physio can advise you how to do this.

Some people with adult-onset SMA may experience high levels of fatigue. This may be their most troublesome symptom. There are many different causes of fatigue. Some reasons why people with adult-onset SMA might be more fatigued than others are:

• Weaker muscles working harder to help you to sit, move and walk around
• Increased pain
• Problems with sleep
• Worrying about the future
• Stress
• Anxiety related to going out and about and the extra planning needed for this e.g.
  • Where will I park?
  • Will I be able to use the toilet?
  • Will there be stairs?

You can better manage fatigue by pacing yourself. This prevents your body from becoming overly tired. Breaking demanding tasks into smaller chunks to allow you to rest in-between can be helpful. Planning your weekly schedule can also help to prevent you overdoing it. Make sure to factor periods of rest into your weekly routine.

If you work, consider asking about working from home or more flexible hours.

Although it may be difficult to imagine exercising when you are very tired, regular exercise can improve your stamina and endurance. Over time this will reduce fatigue. Doing small amounts of exercise throughout the day might be more manageable for people who are fatigued.

Regular exercise helps improve your physical ability and better understand your limits. Your physiotherapist and occupational therapist (OT) can advise you.

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

Adult-onset SMA doesn’t usually cause problems with breathing. Talk to your clinical team if you have any shortness of breath, chest infections, early morning headaches or fatigue. They will discuss if you need any baseline lung function tests or a sleep study. Further assessments usually take place at your local ventilation clinic.

The only form of adult-onset SMA that has a potential disease-modifying drug treatment is 5q SMA Type 4.

If you take any medications health issues not related to your SMA, check with your consultant. They can advise how these may interact with your SMA.

Receiving a diagnosis can bring some relief. However, living with adult-onset SMA affects both you and your family. It’s crucial to have emotional support and time to talk. Some of these suggestions might be helpful:

1. Your Clinical Team

You may be offered support from health and social care professionals. This could include:

• Your Neuromuscular Care Advisor (NMA)
• Your nurse or physiotherapist
• A counsellor or psychologist

Our information sheet: Who’s Who of Professionals > tells you more about the people who may be involved in your care.

2. SMA UK’s Support Team

Our small, experienced Community Support Team > offers a UK-wide service for anyone affected by SMA. We are flexible in how we can support you. We can be in contact by email, phone, text or virtual meetings (such as Microsoft Teams). If you would find it helpful to talk something through in person we can home visit. Though we do not give medical advice, we can discuss the support you and your family can access.

3. Family and Friends

You may be worried about how your diagnosis and care will affect your family and friends. They will want to know how to support you, but it might be hard for them to know what to do or say. Sharing your feelings with them can help. There may also be practical things they can do to assist you (see more below).

4. Religious / Spiritual Support

You may have your own religious or spiritual leader or community who can give you support.

5. The SMA Community

Adult-onset SMA is very rare. People’s diagnosis journey and the impact of their SMA may not be like yours. However, if you would like to talk with someone affected by adult-onset SMA, speak to our Community Support Team. They will see if they can arrange this.

6. Talking Therapies and Counselling

Some people find it helpful to talk about their feelings and how they are managing day-to-day. You might have thoughts you haven’t shared with your family or friends. An independent, trained professional can be an option:

Rareminds Counselling Service

SMA UK works in partnership with Rareminds to offer a free, confidential counselling service for those affected by SMA aged 18+.

Find out more  >

Other Free Talking Therapy Services:

• England:

The NHS offers Talking Therapies for anxiety and depression. You need to be registered with a GP to access them. You can refer yourself directly, or a GP can refer you.

Find out more >

• Scotland:

NHS Scotland offers ‘Living Life’. This offers free phone support sessions using Cognitive Behavioural Therapy (CBT) based techniques. You can refer yourself for an assessment by phoning 0800 328 9655.

Find out more >

• Wales:

You can sign up for a free 12-week course of online therapy called ‘SilverCloud’. This uses methods like Cognitive Behavioural Therapy (CBT).

Find out more >

• Northern Ireland:

Referrals for any talking therapies must go through your GP.

Find out more >

Private counselling

If you think counselling would be helpful and affordable for you, you could consider seeing a local private counsellor. These organisations can help you find one:

• British Association for Counselling and Psychotherapy (BACP) – guidance on counselling and how to find a suitable counsellor. Phone: 01455 883 300: www.bacp.co.uk
• Counselling Directory – online information about different types of counselling and a directory to search for qualified counsellors: counselling-directory.org.uk

If you have been independent and always doing things yourself, it  can be emotionally difficult to let others take over. Help with personal care can be equally, if not more challenging to ask for. You may find it helpful to read more in our page on  Personal Life  – Tab 1 Care and Relationships> .

You may be eligible for financial support and benefits. This includes if you find you need and want external care and support from a Personal Assistant (PA). There is further information about this in our Financial and PA Support pages >.

You can also talk to our Community Support Team > for further information and / or contact your Local Authority > for support or to find out more about an assessment.

Support and advice can help you manage your symptoms and the effects of your condition. Your neurologist, GP, physiotherapist and OT will all support you.

SMA UK

Phone: 01789 267 520
Email: office@smauk.org.uk
Website: www.smauk.org.uk

Our small, experienced Community Support Team > offers a UK-wide service for anyone affected by SMA. We are flexible in how we can support you and can be in contact by email, phone, text or virtual meetings (such as on Microsoft Teams). We are also able to home visit if you would find it helpful to talk something through in person. Though we do not give medical advice, we can discuss with you the support you and your family can access.

The Living With SMA area of our website > gives useful information and ideas. It builds on knowledge and advice from the SMA Community and SMA UK’s Support Services Team. It covers a whole host of topics, including: equipment, home,  transport, leisure, holidays, financial, and emotional and social support.

We offer a number of ways for you to Connect with the SMA Community >

We have a number of Grant Schemes > that may be useful.

We work with Rareminds > to offer a counselling service.

You can keep up to date about events, 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 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.  You need to be referred by your GP or consultant. For more information, contact 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.