Adult Onset SMA – Diagnosis and Care
Adult Onset SMA – Diagnosis and Care
Who this is for
This guide is for adults who have had a recent diagnosis of an adult onset form of SMA or are wondering if this might be what is causing symptoms they are experiencing. It is designed to be used alongside medical advice, which should always come from a member of your medical team.
Getting a diagnosis of adult onset SMA can take time as the symptoms can seem similar to the symptoms of other neuromuscular conditions. Waiting for appointments, test results and a diagnosis can be very stressful. You might want to request a referral to a consultant neurologist from your GP (General Practitioner) if you are concerned about your symptoms or have had some tests but not yet been referred. As SMA is a rare condition, many GPs will not have come across it before.
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 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 5q Spinal Muscular Atrophy?
- Symptoms, and effects of SMA – Type 4
- The Genetics of 5q SMA
You can find these on the information pages of our website.
The impact of adult onset SMA varies greatly between individuals and may change over time – no matter what form of SMA you have.
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 in our webpages about rarer forms of SMA.
Whatever form of SMA you have, it will be important 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.
To set up your personal programme, a physiotherapist 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 may 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). The most affected muscles and joints are:
- achilles tendon (heel)
- hamstrings (back of thigh)
- hip flexors (front of hip and thigh)
- hip abductors (outside of thigh)
You may also experience muscle weakness or 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, and in time may affect your ability with day-to day tasks . Daily stretching can help this.
You may enjoy exercising in the bath, a swimming pool, or, if one is available in your area, a hydrotherapy pool. 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 physiotherapist 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 balance, posture and muscle control can be maintained through exercise, such as yoga, pilates and tai chi. A physiotherapist will be able to advise you about appropriate exercises.
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. If needed, your physiotherapist may suggest equipment, such as a standing frame, which can help with this.
Regular standing also promotes normal bodily functions, for example kidney drainage, and reduces calcium loss in bones.
- Exercises to improve cardiovascular fitness, stamina and mental health
You’ve probably 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 physiotherapist 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.
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 physiotherapist 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.
Regular exercise may help with pain but please speak to your physiotherapist 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. Where possible, breaking demanding tasks into smaller chunks can be helpful. Planning your weekly schedule can also help to ensure that you don’t overdo it. If you are in paid work you may ask about the possibility of, for example, working from home on some days or working more flexible hours. Regular exercise will help you to optimise your physical ability and understand your limits better. Your physiotherapist and occupational therapist (OT) can help support you with strategies to better manage any fatigue.
‘Fatigue Management for people with neuromuscular conditions’ is a leaflet available from Muscular Dystrophy UK. Though not SMA specific, you may find it helpful. You can request a copy by phoning 0800 652 6352 or you can download it from their website here.
Reduced mobility and lack of regular exercise can be a factor for why some people become 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.
Adult onset SMA doesn’t usually cause problems with breathing. If you have any shortness of breath, chest infections, early morning headaches or fatigue, your medical team will discuss if you need any baseline lung function tests or a sleep study – further assessment usually takes place in your local ventilation clinic.
In the UK, there is currently no NHS-funded drug that treats the genetic cause of any form of adult onset SMA.
Though NHS-funded drug treatment is now possible for most people who have a clinical diagnosis of childhood onset 5q SMA (Types 1, 2 or 3), no NHS-funded drug treatments are currently available in the UK for people who have been given the clinical diagnosis of SMA Type 4. Your clinician should carefully review the onset of your symptoms with you.
Access to treatments for anyone diagnosed with SMA Type 4 varies in other countries. In some, for example, regulatory authorities have approved access for all who have 5q SMA, no matter what SMA Type they have. It may also depend on how strictly a country defines the ‘onset of symptoms’ age boundary between SMA Types 3 and 4.
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.
You can find out more by talking to your healthcare team, SMA UK and the other people and agencies listed in the support and resources section below.
If you’re already on, or have been newly prescribed, medication(s) for your health (separate to your SMA), it could be useful to check with your consultant how these might interact with your SMA.
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 advice can help you manage your symptoms and effects; your neurologist, GP, physiotherapist and OT will all support you.
We provide a free Support & Outreach Service for families by email, phone, text, Zoom and occasional 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 & Outreach Team, and covers a whole host of topics, including: health & wellbeing, equipment, homes, education, work, transport, leisure, holidays, financial, and emotional and social support.
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 from the SMA Community and Health Professionals on our YouTube channel.
You can keep up to date with information, new research developments and much more by signing up for our monthly E-news.
The SMA Community – Online Groups
Online groups and social media provide opportunities to connect with others affected by all Types of SMA and potentially hear about others’ experiences. Every person is different and medical advice must always come from your clinical team.
You can find some ways to connect with others here.
Muscular Dystrophy UK
MDUK provide information, support and grants towards specialist equipment for people affected by a range of neuromuscular conditions.
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, CW7 4EH.
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.
Links last checked: June 2023
The information provided in this guide, on our website, and through links to other websites, is designed to complement not be a substitute for clinical and professional care and advice.
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