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Looking After your Baby with

Spinal Muscular Atrophy Type 1

This leaflet is for parents and carers of babies with SMA Type 1. Although there is currently no cure for SMA, this does not mean that nothing can be done. This leaflet explores options aimed at managing symptoms, reducing complications of muscle weakness and maintaining the best quality of life. It combines information about the healthcare your child may need along with tips and suggestions that have worked for other families. There is also now the possibility of eligible children with SMA Type 1 accessing the new treatment for SMA called nusinersen, also known by its marketing name SpinrazaTM. Deciding if this is a treatment you want to request is a very personal decision. Our information sheet 'Nusinersen for children with SMA Type 1: Information for Families' talks more about this and how it may be accessed: www.smasupportuk.org.uk/nusinersen-for-children-with-sma-type-1-information-for-families Whatever path you are on, you will need advice and support so that your baby and you have the best care possible. We hope this information leaflet will be helpful. Our online SMA Type 1 route map (www.routemapforsma.org.uk) may also be useful.

The main effects of SMA Type 1 The symptoms of SMA Type 1 usually begin from birth or within the first few weeks or months of life. Generally, the earlier the onset of symptoms, the more severe the condition. It is not possible to predict accurately life expectancy but, due to breathing difficulties, without intervention this has usually been less than two years. The 2017 International Standards of Care (SoC), however, note that over the last ten years there is evidence of improvements in prognosis and “Even in Type 1, the most severe form of SMA, there has been an increase in survival as a result of a more proactive approach”1 It’s important to remember that each child with SMA Type 1 is affected differently and the severity of the condition varies from child to child. In general, babies diagnosed at an early age: • have low muscle tone (hypotonia) and severe muscle weakness and are often described

as ‘floppy’ babies

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• are unable to support or lift their head, have difficulty rolling over and are unable to sit unsupported due to muscle weakness

• have difficulty lifting their arms and legs, while still being able to use their hands and fingers

• may have a weak cry and their weak breathing muscles cause difficulties with breathing and coughing. This can also increase the chance of respiratory infections which can be life-threatening

• have difficulty swallowing their saliva and other secretions which may make them sound chesty or make them cough. Issues with swallowing can make it difficult to feed and gain weight. There is an increased risk of fluids or food passing into the lungs (aspiration) which can cause choking and, in some cases, chest infections or pneumonia

• facial muscles are not severely affected, so babies can frown and smile • the brain is unaffected and babies with SMA Type 1 are often described as bright, alert

and responsive

What healthcare and support is needed? The 2017 International Standards of Care for SMA (SoC)1,2 outline best practice and management for the three more common forms of SMA, which includes SMA Type 1. The sections in the SoC headed ‘non-sitter’ covers best practice and management for SMA Type 1 but for some, SoC information relating to ‘sitters’. Similarly, SMA Support UK’s information relating to SMA Type 2 / sitters may also be relevant. Your baby will be vulnerable to infections so it is important that they receive any vaccinations recommended by their medical team. Try to avoid direct contact with others who have coughs and colds but remember that it is impossible for you to prevent your baby catching all possible viruses. If your child needs any medications you will be trained on how to administer them and provided with any necessary equipment. Families have suggested setting reminders on a phone to help with giving medication at correct times and as a prompt to order prescriptions and any necessary medical supplies in advance. Your baby should receive care and support from a multidisciplinary healthcare team. This can feel like an overwhelming number of people but they all have an important role to play. You may have contact with specialists in neuromuscular conditions, palliative care, respiratory medicine, orthopaedics, physiotherapy, occupational therapy, speech and language therapy, dietetics and a hospital or community consultant paediatrician. In addition, care and support may also be provided by a General Practitioner (GP), community nurse and health visitor. One of the team should act as your keyworker. Their role is to help co-ordinate services for your family. You can find out more about how these people can help in our information sheet ‘Who’s Who of Professionals’. At every appointment with your baby’s medical team you should be given time to ask questions and then jointly, with the team, decide what support is best for your baby.

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What position is best? As with all babies, babies with SMA Type 1 begin by lying flat. They may progress to supported sitting or lying in a semi-reclined position; this will depend on how easy it is for them to breathe and how strong they are. As they get older they have less movement than other babies so will need more help to be able to look at and enjoy their surroundings. Babies with SMA are ‘tummy breathers’ and are more dependent on their diaphragm muscle. This muscle sits at the bottom of the chest and above the stomach. It is pulled down in order to inflate the lungs and so the tummy moves outwards as this movement occurs. Due to this, babies with SMA should never be laid on their tummies as this makes it harder for the diaphragm to work properly and so harder to breathe. If your baby is too upright or lies on anything that sags or is curved, their chest may concertina or ‘hunch up’ which makes it more difficult for them to take deeper breaths. Deeper breathing is important as it can help to prevent mucus building up in your baby’s lungs. Your baby may find it easier to breathe more deeply when they are lying on a firm, flat surface but that may mean they can’t look around very easily. If your baby’s chin is tucked under or resting on their chest it will be more difficult for them to swallow and they may dribble more. When you are lying your baby down, you are usually advised to place their head to the side to allow for safer swallowing and for saliva to dribble out of their mouth. With help and advice from your occupational therapist (OT), physiotherapist (physio) and community nurse, you will be able to find the best position for your baby. They will talk to you about how your baby will let you know if they aren’t comfortable, or if breathing or managing saliva is difficult. In general, if your baby is breathing in the same way as they do when they are lying down, is not dribbling any more than is usual for them and looks happy, then they are comfortable. During the day you will need to change your baby’s position every hour or so. This will help to ensure that their joints don’t become stiff and will give them a change of view. You may find that over time they are not as happy in a position that had previously worked well. This may be because the position is now causing breathing problems. If this happens, it’s worth trying one of the other positions your OT, physio or community nurse has suggested, or ask them for further advice. A baby’s sheepskin blanket can be very comfortable for your baby to lie on and can also be used in their buggy. However, sheepskins can make babies hot so do keep an eye on their temperature and whether they are getting sweaty. If your baby is lying on their side, it’s worth checking that their arm and shoulder aren’t trapped and that their ears are flat. Also, because your baby’s neck muscles may weaken, a small neck roll, or a rolled-up piece of muslin or a small facecloth, may help hold their neck in a more comfortable position and help with breathing. If your baby is lying on their back, you may find it helps to use a small wedge or rolled up blanket on either side of their hips; this will stop their legs rolling outwards. You can also try

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using rolled up towels and soft toys as positioning aids. Your OT or physio will be able to give you advice and may be able to provide you with suitable rolls or wedges. Your OT or physio may also provide you with a seat that will give your baby a lot of support when s/he is upright or semi-upright. This will also make it easier for them to play and join in. As your baby will have a limited range of comfortable positions, do look out for any red or sore areas on their skin. If you have any concerns, contact your community children’s nurse or health visitor for advice.

Breathing Good respiratory management is important to provide comfort and reduce complications of weakness of the breathing muscles. There are a number of options for respiratory support. Not all options will be appropriate for all children with SMA Type 1 so speak to your baby’s medical team for advice. These options may include:

• Chest physiotherapy to keep them comfortable and help clear secretions from their chest. How often this is needed may vary and you may be trained to do chest physiotherapy yourself

• Your community nurse or physio may talk to you about using a suction machine to help remove excess secretions – you will be given training so that you feel confident about using it

• Medications that can reduce secretions

• Pain relief, if needed, to reduce any distress caused by breathlessness

• A sleep study – this will be used to investigate if your baby has any breathing difficulties when they are asleep. It involves attaching small sensors to your baby’s face, head, arm and chest and monitoring them overnight

• A mechanical insufflator – exsufflator machine, sometimes known as a cough assist – this helps to clear secretions from the lungs but is not always helpful for very young babies and its recommendation will depend on individual assessment

• Oxygen is not routinely used but your respiratory specialist will be able to advise you if and when it should be used

• Non-invasive ventilation (NIV), for example a bi-level ventilator. There are a number of different products available; BiPAP is one example. NIV is sometimes used in the management of acute infection or to correct night-time hypoventilation (breathing at such a slow rate that oxygen levels are decreased and carbon dioxide levels in the blood are increased)

• Invasive ventilation using an endotracheal tube - a flexible plastic tube passed through the mouth or nose into the windpipe (trachea). This may sometimes be used as a short -term measure in a medical emergency

• A tracheostomy – surgery to create an opening in the windpipe to allow breathing through a tube rather than the mouth. The possibility of this as a long-term option needs careful discussion with your child’s medical team

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You can read an overview of breathing / respiratory management options in the International Standards of Care for Spinal Muscular Atrophy2. You should have time and support to ask questions and discuss the different options, to help decide which option is most appropriate for your child. These discussions will be with your medical team who have knowledge of your child’s condition. You can also talk to them about any worries that you have about managing your child’s breathing and what to do in an emergency. They will ensure that you have any training that you may need. They should also liaise with your local hospital to arrange open access to your local children’s ward.

Saliva and secretions Babies with SMA Type 1 have difficulty swallowing their saliva and other secretions. They dribble more which can mean they get damp and uncomfortable. As mentioned previously, when you are lying your baby down, you are usually advised to place their head to the side to allow for safer swallowing and for saliva to dribble out of their mouth. A facecloth, muslin square or breast pad under your baby’s head helps to soak up the saliva and can easily be changed when it gets wet. As described earlier, secretions may make your baby sound chesty or make them cough. Your physio will be able to give you advice about positioning to help with this, to help make your baby more comfortable and to help clear the secretions more easily. In time, your community nurse or physio may talk to you about using a suction machine to help remove excess secretions - you will be given training so that you feel confident about using it.

Feeding and nutrition

Your baby may have difficulties with feeding and swallowing due to their muscle weakness. Feeding can become tiring for your baby and as a result s/he may not gain weight or they may even lose weight. Babies with a weak swallow are also at risk of inhaling (aspirating) their feed which can cause choking and chest (respiratory) infections. There are a number of healthcare professionals who will be able to give you advice and support on feeding, swallowing and nutrition. These may include your health visitor, consultant, speech and language therapist, dietitian and community nurse. Your OT and physio may also advise you on positioning and seating to help with feeding. Currently there is no strong evidence that babies with SMA Type 1 need a specialist feed. Due to limited mobility, some individuals with SMA may have lower bone density than others. Vitamin D and calcium supplementation may help improve bone strength. Speak to your medical team for guidance on this. If there are concerns about your baby’s ability to swallow, a swallowing study may be carried out. The test most often used is called a videofluoroscopy which is a type of x-ray that allows doctors to see what is happening during swallowing.

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If swallowing becomes unsafe, or if your baby is not gaining enough weight, alternative ways of feeding may be suggested. These may include feeding through:

• a nasogastric (NG) tube - a thin flexible feeding tube passed through the nose into the stomach

• a nasojejunal (NJ) tube - through the nose into the jejunum – middle part of the small intestine

• a gastrostomy (G) tube - placed in the stomach in a surgical procedure and sometimes also called a PEG – percutaneous endoscopic gastrostomy

You should have the opportunity to discuss the reasons for any of these feeding suggestions and have time to ask questions in order to understand the possible benefits and risks for your child. Whichever option is chosen, you will be provided with training and support to enable you to feed your baby safely at home. Constipation is a common problem with children with SMA Type 1. It can cause discomfort and respiratory issues. Some children may also experience reflux (when they bring back up what they have swallowed). Your baby’s medical team will be able to advise you on how to manage these symptoms and so reduce discomfort and prevent complications.

Temperature and what to wear As mentioned before, SMA Type 1 can make babies very sweaty with flushed faces and hot or cold hands. This can make it difficult to judge if their temperature is ok. If you aren’t sure, it’s worth checking with a small digital thermometer that you can hold under your baby’s armpit, or one you can put in their ear - you can buy these from any chemist. For more information on how to take your baby’s temperature please see NHS Choices: www.nhs.uk/conditions/pregnancy-and-baby/pages/how-to-take-your-babys-temperature.aspx Changing a baby’s clothing is never an easy task, especially if they are tired or uncomfortable. Thin, loose layers of clothing work well as you can remove a layer if your baby is hot. It’s worth choosing roomy vests or baby grows that have large neck-openings which make them easier to get on and off and that are loose enough not to dig into your baby’s skin. Watch out for tight cuffs or feet that are too small and will cramp toes. You can avoid having to lie your baby on their tummy when changing them if they have front fastening clothes. If your baby’s feet and hands get cold you can add an extra layer of warmth with booties and mittens. You may find that baby sleeping bags, which are warm but loose and roomy, are also useful when you are out and about.

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Movement Babies with SMA Type 1 have difficulty moving their arms and legs and may be unable to roll. However, they do enjoy being assisted to move. Your physio may be able to give you advice on simple exercises to support your baby or give you tips on massage techniques. You can try ‘ride your bicycle’ movements with their legs, gently moving them at the hips and doing ‘hand jives’ with their arms to music or songs. As well as being fun, this will help prevent your baby getting stiff muscles (contractures) and will also help to maintain a range of movement in their joints. Moving is also good for your baby’s circulation. Your physio may suggest exercises for in the bath, swimming or hydrotherapy pool as babies often enjoy the additional freedom of movement provided by warm water. Speak to your child’s medical team about your local facilities and what might be suitable for your baby. It is best not to take your baby into a non-warm pool before they are six months old as they may have trouble regulating their temperature. You can also encourage your baby to make movements themselves. If you position toys carefully and your baby is comfortable, encourage them to try reaching out. If your baby is six months old or more, try lying them on their side so that they can bring their hands together more easily and pass toys between them to play. For more information on toys please see our leaflet ‘Toys, Play and Activities for Babies with Spinal Muscular Atrophy’ www.smasupportuk.org.uk/toys-play-and-activities-for-babies-with-sma

Bath time Babies with SMA Type 1 generally enjoy being in warm water. They can often move much better in water and so bath time provides not only a fun playtime but also good physiotherapy. It will help a lot if you have a bath support for your baby so that you can have your hands free for washing and playing. Your OT will advise you which one is best for you and your baby. You might also find it helpful to have a towel laid out ready with a head roll for after the bath, to help with keeping your baby well supported while you are drying them. Though fun, bath time can also be tiring for your baby. If s/he gets upset after bath time you may need to keep it brief and follow it with a nap. It’s also probably best to feed your baby after bath time rather than before as they might not be comfortable being handled so much when they have a full tummy.

Night-time It is recommended that all babies sleep in their parents’ bedroom for the first six months. You may need to do this on an ongoing basis so that you can check on your baby regularly and reposition them so that they don’t get stiff and uncomfortable during the night. It’s best to have a room that isn’t dry or stuffy or too warm as this can make your baby’s secretions become sticky and difficult to remove. It’s usually best for your baby to sleep on a baby mattress or pillow as these are more comfortable than an adult mattress. There are also specialist mattresses available for babies and young children made of memory foam which mould to the body. Some parents have

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found these helpful for their child with SMA. Sleep systems (equipment to aid postural support) may sometimes be provided to increase comfort and to support your baby’s limbs in a comfortable position at night-time. Your OT and / or community nurse will be able to provide you with more information on sleep systems and suitable mattresses. Some families have shared that they find it helpful to use a paediatric hospital cot which can be height adjusted and others have said that they use an alternating pressure air mattress for comfort and to help prevent bed sores. It helps to have plenty of mattress covers, bedding and facecloths so that you can change and wash them when they get damp. Several thin, light covers on top of your baby are useful so that you can add or remove a layer if your baby gets cold or hot. If your baby coughs a lot during the night you can try to improve the air circulation in the room, but make sure they aren’t in a draught. If you have any questions or concerns speak to your community nurse. It’s important that you get rest and sleep. If your baby needs a lot of help overnight, your local health services may be able to provide some night care to give you a break - ask your health visitor, paediatrician or community nurse.

Getting out and about on foot Your baby is likely to enjoy getting out and seeing things, however they may need a lie-flat buggy. Longer term, you may need to carry a suction machine and other equipment with you so a buggy that has a strong and stable carrying basket or storage tray can be useful. Your OT or physiotherapist may be able to help you with finding out about a make and model of buggy that will work well for you and your baby. SMA Support UK can also let you know what models have worked well for other parents. When your baby is lying on their side in a buggy, you may find that a rolled-up blanket against their back will help support them. A small neck roll and soft toys can also help to support other parts of their body comfortably. Your physio or OT will be able to advise you about good positioning and may be able to provide wedges or foam inserts which are shaped to promote good postural support. If your baby is less severely affected by SMA, they may be strong enough by the age of about 4 to 5 months to sit more upright. In this case a specialist pushchair / buggy might be possible. Ask your physio or OT to refer you to wheelchair services for an assessment for a suitable buggy and ask them how long the process will take.

Getting out and about by car Babies with SMA Type 1 are likely to need rear-facing car seats and possibly additional head support. Your baby may be able to use a standard car seat, but this may be too upright for them. If your baby is uncomfortable in their car seat, you can ask your physio or OT to suggest

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a suitable alternative that provides recline / lie-flat options and enough support. A small neck support and additional head support may also be useful. SMA Support UK can also help with information on car seats and possible sources of funding. It may be difficult to find a suitable car seat for your baby as they grow; ask your OT or physio for advice. If your child cannot use a car seat safely and comfortably then a possible option might be an E-Z-On Harness which enables a child to be strapped in whilst lying flat along the length of the back seat of a car. More information on car seats and the E-Z-On Harness is available from the In-Car Safety Centre: www.incarsafetycentre.co.uk In Car Safety Centres are located in Milton Keynes, Essex and Belfast. Another alternative to a car seat, particularly for older children, is to secure a specialist lie-flat buggy in a wheelchair accessible vehicle (WAV). Your physio or OT may be able to advise you on a suitable buggy. Sometimes they are available through wheelchair services. WAVs can be leased through the Motability Scheme if a child is over 3 years old and receives the high rate mobility component of Disability Living Allowance. Currently this option is not available to children under the age of 3 so some parents purchase their own vehicle. If your child cannot use a car seat for medical reasons then you can contact your GP for a certificate which will explain why – this is a ‘certificate of exemption from compulsory seatbelt wearing’. You will need to carry this document at all times in your car. For more information on this please see: www.gov.uk/seat-belts-law The Blue Badge scheme is run by local authorities. This entitles people with severe mobility problems to parking concessions. Although the minimum age for Blue Badge applications is 3 years, in certain circumstances it is possible to apply for children under 3 years old with medical conditions which require them to be accompanied by bulky medical equipment, or if they need to remain near their vehicle in order to access treatment. To find out more about these special circumstances and how to apply for a Blue Badge visit the GOV.UK site: www.gov.uk/blue-badge-scheme-information-council Even if your baby is dependent on suction and other equipment, it may still be possible to get out and about and visit enjoyable places like the zoo and the seaside. Ask your community nurse or physio about a portable suction machine so that you can take it out with you. You might also want to keep spare equipment such as suction catheters in the car.

Healthcare services that can help you:

- Advance care plan

Following a diagnosis of SMA Type 1 it is important that you should have the opportunity to discuss in-depth with your medical team the range of care options that may be appropriate for your baby. These discussions are important for developing an advance care plan to record the treatment you wish, or do not wish, your child to receive if his/her health deteriorates or in an emergency. This plan can be reviewed and you can change your mind at any time.

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With your permission, this advance care plan can be shared with professionals supporting your child, including ambulance services, to ensure that everyone is aware of your wishes. Open access to your local children’s ward can be arranged with your medical team.

- Palliative care Palliative care is an active approach to care, aiming to support the physical, emotional and practical needs of your child and family from the point of diagnosis onwards, and also taking into account any cultural and spiritual needs you may have. Palliative care includes the management of symptoms, information and practical support, and the provision of short breaks from caring. The overall aim is to achieve the best quality of life for your child, whichever medical options you may choose. Palliative care services vary across the UK and may be provided by a number of different healthcare professionals in a variety of settings including hospitals, children's hospices and at home. Your child’s consultant, care advisor or specialist nurse can advise you on services available in your area.

- Children’s hospices Staff at children’s hospices support families, both practically and emotionally. Support and respite is available to families at any stage of their child’s life. Many families find hospices to be happy and positive environments where they can spend time together doing activities as a family, including siblings. Care and support is provided by specialist staff and, as well as offering nursing care, they provide a range of services that may include physiotherapy, complementary therapies and play and music therapy. The hospice can support you to make decisions about your baby’s ongoing care and wishes for their future care should they become very unwell.

Children's hospices can also offer invaluable support and specialist care at end of life both within the hospice and sometimes in your own home, and they will also provide practical and emotional support if a child dies.

Looking after yourself The impact of a diagnosis of SMA Type 1 on families is enormous. It often comes as a shock and you may experience feelings of disbelief, confusion, anger and sadness. You may find it difficult to take everything or anything in. The 24 hour-a-day responsibility of caring for a child with complex medical needs that follows can be physically, emotionally and psychologically exhausting. Everyone is different, but it is important for you and your family to have access to emotional support and to have plenty of time to talk and ask questions. This can be with members of your child’s medical team, your local General Practitioner (GP), health visitor, social worker,

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psychologist or a counsellor, as well as family and friends, a spiritual leader, support groups, or online communities. (More information on this is available in the ‘Emotional and Social Support’ section of the SMA Type 1 route map.) Even though you will be focused on your child it is important to try and look after yourself. Remember to make sure your vaccinations are up-to-date and that you get the influenza vaccine (flu jab). Ask friends and family to help out with practical things such as shopping and cleaning to help save you time and energy. You may also benefit from accessing local short break services. These may be available in the home or a children's hospice. Some local authorities also have residential short breaks provision for children with disabilities. You can ask your GP, community nurse, health visitor or social worker for more information.

Financial support Families living in the UK may be eligible for a number of financial benefits to help towards the cost of providing the extra care their child may need. This does depend on your individual circumstances. For further information visit the website: www.gov.uk Your health visitor, community nurse, neuromuscular care advisor, family support worker, social worker or outreach worker may be able to help you with applications for financial benefits. There are also a number of charities that may assist you with the cost of general household goods, specialist equipment and holidays / days out. Please contact SMA Support UK for more information or see the SMA Type 1 route map.

What other help is available?

Spinal Muscular Atrophy Support UK provide free information and support to families in the UK affected by SMA. Our outreach workers are able to visit you at home. They offer personalised support and information and are available to answer questions. They can discuss with you the support you and your family can access. Please note, we do not give medical advice. Multisensory toy packs are also available free of charge for babies in the UK diagnosed with SMA Type 1. Muscular Dystrophy UK provide information, support, advocacy services and grants towards specialist equipment for people affected by a range of neuromuscular conditions. They also have condition specific ‘alert cards’ which can be used to provide medical professionals with information about your child’s condition. More information and a link to the alert card for SMA Type 1 can be found at: http://www.musculardystrophyuk.org/about-muscle-wasting-conditions/information-factsheets/conditions/alert-cards-and-care-plans/alert-cards/ Regional care advisors and sometimes neuromuscular nurse specialists, are attached to NHS neuromuscular clinics in various regions of the UK. They provide support and information to children and adults with muscle diseases and their families. They link up with other professionals and services so that people receive the local health and social support they need.

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Useful contacts SMA Support UK Phone: 01789 267 520 Email: supportservices@smasupportuk.org.uk Website: www.smasupportuk.org.uk For more detailed support and information about SMA Type 1 please go to: www.smasupportuk.org.uk/about-sma and the SMA Type 1 route map: www.routemapforsma.org.uk Muscular Dystrophy UK Phone: 0800 652 6352 Website: www.musculardystrophyuk.org Regional Care Advisors Contact details are available through Muscular Dystrophy UK’s website: www.musculardystrophyuk.org/get-the-right-care-and-support/people-and-places-to-help-you/professionals-and-organisations/care-advisors/ Together for Short Lives Provide information and support to families who have a child with a life-limiting condition, including details of hospice services. Phone: 0808 8088 100 Website: www.togetherforshortlives.org.uk Contact for Families with Disabled Children Provide information and support to families who have a child with a disability, including information on benefits and grants. Phone: 0808 808 3555 Website: www.contact.org.uk Newlife The UK's largest charity funder of children's specialist disability equipment. Phone: 0800 902 0095 Website: www.newlifecharity.co.uk Turn2Us A national charity that helps people in financial hardship gain access to welfare benefits, charitable grants and support services. Website: www.turn2us.org.uk

Further Resources

• SMA Support UK condition-related information You will find a wide range of other leaflets and resources in this section of the website: www.smasupportuk.org.uk/about-sma

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The leaflets ‘What is SMA Type 1’ and ‘Nusinersen for children with SMA Type 1, Information for Families and other information related to SMA Type 1 are in this section: www.smasupportuk.org.uk/type-1 The SMA Type 1 route map can be found at: www.routemapforsma.org.uk

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• Standards of Care for Spinal Muscular Atrophy (2017)

You can read about and download the 2017 internationally agreed Standards of Care from here: http://www.smasupportuk.org.uk/international-standards-of-care-for-sma

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• SMA Support UK research-related information: You will find more information about nusinersen and what is happening in the UK here: www.smasupportuk.org.uk/nusinersen This website section tells you about other research developments: www.smasupportuk.org.uk/drug-treatments-whats-happening-now You can keep up to date by signing up for SMA Support UK’s monthly e-news: http://smasupportuk.org.uk/sign-up-for-mailings

Thank you to the parents and families affected by SMA Type 1 who have passed on their tips and suggestions.

Version 4.5 Author: SMA Support UK Information Production Team Fully reviewed: April 2017 Last updated: June 2018 Next full review due: April 2020

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

Please help us keep on producing information like this. We receive no government funding and rely on public support.

You can sign up as an information publication reviewer by

contacting us by email: office@smasupportuk.org.uk or phoning: 01789 267 520

Or to make a donation go to: www.smasupportuk.org.uk/donate

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We are grateful to the writers and reviewers who assist us in our information production. A list of who this includes may be viewed on our website: www.smasupportuk.org.uk/our-writers-and-reviewers-panel or requested from supportservices@smasupportuk.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 Support UK shall not be liable whatsoever for any damages incurred as a result of its use. SMA Support UK does not necessarily endorse the services provided by the organisations listed in our information sheets.

References

1. Eugenio Mercuri, et al., Diagnosis and management of spinal muscular atrophy: Part 1 Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders (2017), doi: 10.1016/j.nmd.2017.11.005 www.sciencedirect.com/science/article/pii/S0960896617312841?via%3Dihub

2. Richard S. Finkel, et al., Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organs systems; and ethics, Neuromuscular Disorders (2017), doi: 10.1016/j.nmd.2017.11.004 www.sciencedirect.com/science/article/pii/S0960896617312907?via%3Dihub

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