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Your GP or local hospital consultant can refer your child to a specialist neuromuscular centre:

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.

It was agreed that the key to the most appropriate intervention and care depended on the person’s ‘functional ability’:

  • whether they could sit, stand or walk
  • whether their breathing was affected by their SMA
  • what other daily living activities they could manage.

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 are now changing. Though the SoC remain a useful reference point for a family, your child’s care and the management of their condition will be very individualised based on assessment of your child by their clinical team and a full discussion of this with you.

For the complete UK Guide pdf version, please click here.

Some translations are available – see the bottom of this page.

The Guide includes these chapters:

Impact of SMA on Posture, Movement & Exercise

As SMA causes progressive muscle weakness and loss of movement due to muscle wasting, it’s likely to impact in some way on your child’s ability to keep up with everyday activities. These include tasks such as getting up and dressed, using the toilet, holding cutlery and pencils. Physiotherapists describe them as your child’s ‘functional abilities’.

Another common impact of SMA is tightening of joints (contractures) which can lead to pain and difficulty moving. These problems are common early on for children who are ‘non-sitters’ (usually diagnosed with SMA Type 1) and for children who are ‘sitters’, but tend to occur later for children who are ‘walkers’.


Management and Care

There are different ways of helping to manage these posture and movement challenges. Chapter 3 Physiotherapy and Rehabilitation of the family-friendly Guide to the 2017 International Standards of Care for SMA (SoC) summarises the key recommendations that were made then.

Since publication, 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 are now changing. Though the SoC remain a useful reference point, your child’s care and the management of their condition will be very individualised based on an assessment by their physiotherapist and clinical team and a full discussion with you.


Conversations with Healthcare Professionals – Webinars

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:

In November 2020, Lindsey Pallant (Clinical Specialist Physiotherapist at Leeds General Infirmary) and Felicity Vann (Senior Specialist Paediatric Physiotherapist at Evelina London Children’s Hospital) talk to Martyn Sibley about Posture, Movement and Exercise for individuals with SMA and focus on functional abilities, contractures and posture management:

You may also find helpful information in whichever of the following SMA UK ‘Looking after your child…’ guides is the ‘best fit’ for your child:

You can find related information in: Spine, Hips and Bones (further down the page) and Equipment.

Impact of SMA on Breathing

The muscle weakness caused by SMA can affect the muscles for breathing. Breathing problems may be common for children who are ‘non-sitters’ (usually diagnosed with SMA Type 1) and children who are ‘sitters’, but they’re rare for children who are ‘walkers’.


Management and Care

There are different ways of helping to manage these breathing challenges.

Chapter 6 Breathing (Respiratory and Pulmonary Care)of the family-friendly Guide to the 2017 International Standards of Care for SMA (SoC) summarises the key recommendations that were made then.

Since publication, 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 respiratory care are now changing. Though the SoC remain a useful reference point, your child’s care and the management of their condition will be very individualised based on an assessment by their respiratory team and a full discussion with you.


Cough Assist for Younger Children

Lisa Edel (Specialist Respiratory Physiotherapist – Great Ormond Street Hospital for Children NHS Foundation Trust) talks to SMA UK host Martyn Sibley:

Recorded: Nov 2020

Non-Invasive Ventilation for Young Children

Dr Elaine Chan (Consultant Respiratory Paediatrician) and Gary Rendle (Non-Invasive Ventilation Clinical Nurse Specialist) from GOSH talk to Martyn Sibley about non-invasive ventilation for young children, including the potential benefits, why it might be needed and assessments involved. They also look at a machine and explain how it works:

Recorded: Feb 2021

Further Information

You may also find helpful information in whichever of the following SMA UK guides is the ‘best fit’ for your child:

 

At the 4th International Scientific Research Congress in April 2024, Kim Kant-Smits (University Medical Centre, Utrecht, Netherlands), a paediatric physical therapist and PhD student, presented research looking into the impact of exercising the breathing muscles in SMA. See the Breathing muscle training in SMA tab on the Congress Report page.

 

Impact of SMA on Eating and Diet

The main eating and diet related problems associated with SMA can be:

  • difficulty swallowing
  • weight management
  • movement of food through the digestive system

These problems may be common for children who are ‘non-sitters’ (usually diagnosed with SMA Type 1) and children who are ‘sitters’, but they’re rare for children who are ‘walkers’.


Management and Care

There are different ways of helping to manage these eating and diet challenges.

In 2023, Maxwell (who has SMA Type 2) spoke to Dr Graeme O’Connor (Research Lead for Dietetics at GOSH) about diet and nutrition in SMA:

In 2022, SMA Europe ran workshops on nutrition in the spotlight of SMA care. You can watch the videos on their YouTube channel.

The Blends Project is a resource about food for feeding tubes. It has been recommended to an SMA family by their dietitian. It is designed to help you find out about blended diet and decide if it is a good choice for your child and your family. It was developed at Nottingham Children’s Hospital with a group of parents who use blended diet. Their experiences and top tips are highlighted throughout.

Chapter 5 Nutrition, Growth and Bone Health of the family-friendly Guide to the 2017 International Standards of Care for SMA (SoC) summarises the key recommendations that were made then.

Since publication, 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 diet and eating are now changing. Though the SoC remain a useful reference point, your child’s care and the management of their condition will be very individualised based on an assessment by their clinical team and a full discussion with you.

You may also find helpful information in whichever of the following SMA UK ‘Looking after your child…’ guides is the ‘best fit’ for your child:

Impact Of SMA On The Spine, Hips & Bones

SMA commonly causes bone and muscle (orthopaedic) problems. It can weaken muscles that support the spine and, without this support, the spine can be pulled by gravity and curve. Most commonly this is a sideways ‘c’ or ‘s’ shaped curve called a scoliosis.

It’s estimated that as they grow, 60 – 90% of ‘non-sitters’ and sitters’ develop a curvature as do 50% of ‘walkers’.

It’s also common for non-sitters and sitters to have unstable hips which may affect one hip or both and to be at higher risk of bone fractures.


Management and Care

There are different ways of helping to manage these challenges. Chapter 4 Orthopaedic Management of the family-friendly Guide to the 2017 International Standards of care for SMA (SoC) summarises the key recommendations that were made then.

Since publication, 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 are now changing. Though the SoC remain a useful reference point, your child’s care and the management of their condition will be very individualised based on an assessment by their clinical team and a full discussion with you.

If your child has been recently diagnosed, you may also find helpful information in whichever of the following SMA UK ‘Looking after your child…’ guides is the ‘best fit’ for your child:


Spinal Surgery

Your child will be monitored and if their spine is curving beyond a certain point, surgery may be suggested. If the possibility of your child having spinal surgery has been introduced by the medical team, and you want to discuss this with your child, you may find the Spine, Hips & Bones section written for teenagers helpful.

The development of these skills in all children impacts hugely on their ability to join in with family, friends, school and nursery.

Our webinar with Giovanni Baranello (Consultant Neurologist at GOSH) and Alison Felton (Speech & Language Therapist at Alder Hey), was recorded in October 2023, and focuses on children who have SMA Type 1. It covers research, developmental signs, communication aids, recommended strategies that may be needed and how local and specialist teams can help:

Alison also suggested a number of useful resources:

What’s possible for my child?

There are now three drug treatments funded by the NHS for SMA, though not all are options for all children. Current eligibility criteria have been agreed by the UK regulatory authorities, based on assessments of safety, clinical and cost-effectiveness.

Though SMA affects each child differently and responses to treatment vary, it is widely agreed that for all three treatments, the earlier they are given, the better the potential outcomes. But children do have to be well enough to start (or continue) treatment, which may mean a delay, pause, alternative option or stopping if risks outweigh potential benefits. Your child’s team will talk with you about the different treatments, whether or not your child is eligible, and the potential risks and benefits for your child.

For the latest information on which children may have access to a drug treatment in the UK, please see our Treatments & Research section. You may find the information in our PDF summary guide Drug Treatments for Children in England useful, no matter where in the UK you live.


A family experience of receiving treatment

In this NHS Video, parent Charlie talks about their experience of Rupert’s diagnosis, his Zolgensma™ treatment, and the following months:


What outcomes have families seen?

Many families share their experiences on social media and for some these can be useful. However, no two families have the same personal circumstances, and no two children are the same in terms of the impact of their SMA. What treatment is most appropriate for them, how they will react and what the outcomes are may vary considerably.

It’s probably fair to say that, on the whole, families who have chosen treatments and seen positive outcomes post their ‘stories’ publicly, so do talk through what you see on social media with your medical team.

All children experience a range of emotional ups-and-downs as they navigate our complex world. Disabled children can face additional stresses and challenges and may become anxious, frustrated or angry about the barriers they face.

Read more >

Care Planning

Soon after your child’s diagnosis, you should have had the opportunity to discuss management and care options in open consultation with their multi-disciplinary medical team. Discussions and reviews of any decisions you have made should take place on an ongoing basis – how often will depend on the impact of your child’s SMA. For example, if your child is a ‘non-sitter’ who has difficulties with breathing and swallowing, you’d expect to have more frequent discussions and a more detailed care plan than if your child has no breathing and swallowing difficulties.


Emergency Care

Any child with SMA should have an Emergency Healthcare Plan (EHP) – a written plan of action that any medical team can follow should a child become unwell. You should be able to state your wishes in the plan. It should be agreed between you and your specialists while your child is well, involving your child if they are old enough and have an appropriate level of understanding.

The detail and topics covered in your child’s EHP will depend on the impact of their SMA.

Sometimes families need to take their child to Accident and Emergency (A&E) Services at a local hospital. Frequently clinical staff there will not have come across SMA. Our Information Team has worked with clinical experts to produce an information sheet for families to give to the A&E team. It provides information that will assist them with their assessment of the needs of your child. You can download this and have it ready on your phone or bookmark it – see this page.

The information sheet draws on the 2017 International Standards of Care for SMA which were written before disease-modifying treatments became widely available, and brings the emergency care information families need, up to date.

Though drug treatments have been life changing, some children remain vulnerable to the potential for life threatening illness and complications.

An Anticipatory Care Plan (ACP) sets out what actions should be taken if a child’s condition changes in this way. It is agreed by parents and the team caring for their child.

Planning ahead means that parents (and when appropriate, their child) will have thought through how and where their child will be cared for, rather than being faced with difficult decisions at a time when they are likely to feel exhausted and confused.

Together for Short Lives / Care Planning in Advance gives more information including some of the questions to consider when making a plan.