Spinal Muscular Atrophy Type 1

Transcription

1 Spinal Muscular Atrophy Type 1 This information sheet briefly explains the cause, effects, and management of Spinal Muscular Atrophy (SMA) Type 1. It includes sources of further information and support. It is for the families of children diagnosed with SMA Type 1. It may also be useful for healthcare and other professionals. The glossary at the end further explains the words that appear in bold font. SMA Type 1 is a complex condition; there is a lot of information to take in, and every child with SMA is different. Your child s medical team will always be happy to go over any of this with you. What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a rare, genetically inherited neuromuscular condition. SMA may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. SMA is often grouped into Types. Types of SMA are based on the age at which symptoms first appear and what physical milestones a baby or child is likely to achieve. Milestones can include the ability sit, stand, or walk. There are four main types of SMA: Types 1, 2 and 3 appear in childhood. Type 4 appears in adulthood and is also known as Adult Onset SMA. These Types are not rigid categories. There is a wide spectrum of severity between the different types of SMA and between children, young people, and adults within each type. There are also other, even rarer, forms of SMA with different genetic causes including SMA with Respiratory Distress (SMARD), Spinal and Bulbar Muscular Atrophy (SBMA), and Distal SMA (DSMA). What causes SMA? Usually, electrical signals from our brain are sent down our spinal cord along our nerve cells and through to our muscles. This makes it possible for us to consciously contract our muscles and to make them move. SMA affects a particular set of nerve cells called the lower motor neurones 1 which run from the spinal cord out to our muscles. The lower motor neurones carry messages that make it possible for us to move the muscles we use to crawl and walk, to move our arms, hands, head, and neck, and to breathe and swallow. in England and Wales Page 1 of 16

2 For our lower motor neurones to be healthy, we need to produce an important protein called the Survival Motor Neuron (SMN) protein. Our ability to do this is controlled by a gene called Survival Motor Neuron 1 (SMN1) 2. We all have two copies of this SMN1 gene, one from each parent. People who have two faulty copies of the SMN1 gene have SMA. People who have one faulty copy of the SMN1 gene are carriers of SMA. Carriers do not have SMA or any symptoms of SMA. People who have two healthy copies of the SMN1 gene do not have SMA and are not carriers. SMA is passed from parents to their children through their SMN1 genes. When two people who are carriers have a child together, their child may inherit two faulty SMN1 genes, one from each parent. If this happens, then their child will have SMA. Having two faulty SMN1 genes means that a child is only able to produce very low amounts of the SMN protein. This causes their lower motor neurones in their spinal cord to deteriorate. Messages from their spinal cord do not efficiently get through to their muscles, which makes movement difficult. Their muscles waste due to lack of use and this is known as muscular atrophy. What is SMA Type 1? SMA Type 1 is the most severe form of SMA. It accounts for between 50 70% of cases of childhood onset SMA. It is sometimes called Werdnig-Hoffman Disease or severe infantile SMA. Each baby with SMA Type 1 is different. The symptoms of SMA Type 1 usually appear within the first few months of life. In some cases SMA can affect babies even before birth and mothers may remember that their baby had become less active towards the end of their pregnancy. Generally, the earlier the onset of symptoms, the more severe the condition. The most severely affected babies may die before, during, or very shortly after birth. This is sometimes referred to as SMA Type 0. Sometimes doctors try to indicate the degree of severity within SMA Type 2 by using a decimal classification 3, for example, 1.1, 1.2, 1.5, 1.9. If you have any queries regarding this please speak to your child s medical team. SMA Type 1 is a life-limiting condition. Though it is not possible to accurately predict, for the majority of children (approximately 95%) life expectancy is less than 18 months. In general babies diagnosed within the first few weeks or months of life have a significantly shorter life expectancy. How is SMA Type 1 diagnosed? If a doctor suspects SMA after taking a medical history and physically examining a baby, the diagnosis is confirmed by taking a blood sample for DNA testing. The blood sample is tested in England and Wales Page 2 of 16

3 for a deletion in the survival motor neurone 1 (SMN1) gene on chromosome 5. The result of the test is usually available within 2 4 weeks. Further tests, such as an electromyogram (EMG) or muscle biopsy, may be considered if there is any uncertainty about the diagnosis, but are not usually needed to confirm SMA. What are the effects of SMA Type 1? Babies with SMA Type 1 are often described as floppy babies, due to their low muscle tone (hypotonia) and severe muscle weakness. The muscle weakness affects movement, swallowing and breathing. Babies with SMA Type 1 are unable to lift their heads, have difficulty rolling over and are unable to sit unsupported. They may also have a weak cry. In SMA, muscle weakness is usually symmetrical. The muscles close to the centre of the body (proximal muscles) are usually affected more severely than the muscles situated away from the centre of the body (distal muscles) and the legs are generally weaker than the arms. This results in babies having difficulty lifting their arms and legs, while still being able to use their hands and fingers. The brain is unaffected and babies affected by SMA are often described as bright, alert and responsive. The muscles of the face are not usually affected so babies can smile and frown. Weakness of the respiratory muscles can cause severe difficulties with breathing and coughing. It can also increase susceptibility to respiratory viruses and infections which can be life-threatening. The muscles used for sucking and swallowing are also affected and this may cause difficulty with feeding and weight gain. Difficulty with swallowing can increase the risk of fluids, or food, passing into the lungs (aspiration) which can cause choking and, in some cases, pneumonia. Is there a treatment or cure? At present there is no cure for SMA, and no treatment that will repair the damage to the lower motor neurones or reverse the weakening of the muscles. However there is a range of options aimed at managing symptoms, reducing complications of weakness and maintaining the best quality of life for as long as possible. A baby with SMA Type 1 should receive care from a multidisciplinary team which may include specialists in neuromuscular conditions, palliative care, respiratory medicine, physiotherapy, occupational therapy, speech and language therapy, dietetics and a hospital or community consultant paediatrician. Where available, a keyworker should assist in the coordination of services for the family. in England and Wales Page 3 of 16

4 The impact of a diagnosis of SMA Type 1 on families is enormous. Parents should be offered ongoing support with emotional, practical and financial issues following the diagnosis of their baby (see section What other help is available ). Parents should also be offered a referral for genetic counselling to help understand how SMA is passed on and the chances of other children being affected. Genetic counselling also provides the opportunity to discuss choices for future pregnancies. Support with breathing Good respiratory management is important to provide comfort and reduce complications of muscle weakness. An overview of respiratory management in SMA can be found in the booklet Standards of Care for Spinal Muscular Atrophy the family guide published by TREAT-NMD. This booklet can be obtained from Spinal Muscular Atrophy Support UK or downloaded from the TREAT-NMD website There are a number of options for respiratory support. Not all options will be appropriate for all babies with SMA Type 1. The options may include: Interventions to maintain comfort such as chest physiotherapy and suction to remove secretions, medications to reduce secretions, pain relief to reduce any distress caused by breathlessness Non-invasive ventilation (NIV) with mechanical ventilation to increase comfort, in the management of acute infection or to correct night time hypoventilation. Non-invasive ventilation may not be appropriate for some babies e.g. babies with severe weakness of the muscles around the mouth and throat (bulbar muscles), and in babies aged less than 6 months, whilst for others it may help to relieve respiratory distress or facilitate discharge home from hospital Invasive ventilation mechanical ventilation via an endotracheal tube or tracheostomy. Mechanical ventilation via an endotracheal tube may sometimes be used as a short term measure in a medical emergency. However, until there is an effective treatment to prevent the progression of muscle weakness, the use of tracheostomy with long term invasive ventilation remains an ethical dilemma Choosing the most appropriate management involves very difficult decisions. Parents should have time and support to ask questions and discuss the different options, to help decide which is most appropriate for their baby. These discussions will be with the medical team who has knowledge of their baby s condition and possible progression. Parents may also wish to seek emotional support from sources outside the medical team e.g. their family, community and spiritual leaders. in England and Wales Page 4 of 16

5 Support with feeding and swallowing Babies with SMA Type 1 may encounter problems with feeding and swallowing due to muscle weakness. Feeding can become a tiring process for babies with SMA Type 1 and as a result they may lose weight. Babies with a weak swallow are also at risk of inhaling (aspirating) their feed which can cause chest infections. Advice and support on feeding, swallowing and diet is available to parents from a number of healthcare professionals. These may include the health visitor at their local health centre, the child s consultant, speech and language therapist, dietitian and community nurse. Occupational therapists and physiotherapists may also advise on positioning and seating which may assist feeding. At this time there is no clear evidence that babies with SMA Type 1 need a therapeutic feed or one with an increase or decrease in particular nutrients. If swallowing becomes unsafe, or if a baby is not gaining enough weight, alternative ways of feeding may be suggested. These may include feeding through a nasogastric (NG) tube, a nasojejunal (NJ) tube or a gastrostomy (G) tube. Parents should have the opportunity to discuss the reasons for these suggestions and have time to ask questions, so they understand the possible benefits and risks to their baby. Whichever option is chosen, parents will be provided with training and support to enable them to feed their child safely at home. Constipation is a common problem with babies with SMA Type 1. It can cause discomfort and respiratory distress. Some babies may also experience reflux. To reduce discomfort and prevent complications, the management of these symptoms should be discussed with the baby s medical team. Options for care and support Parents should have the opportunity to discuss the range of care options in depth with their baby s medical team to decide what support is most appropriate for their individual circumstances. These discussions are important for developing an anticipatory care plan, which records the treatment parents wish their baby to receive when his/her health deteriorates or in an emergency situation. This plan can be reviewed and parents can change their minds at any time. Ideally the goal of care is to enable a child to enjoy a good quality of life at home with their family for as long as possible, with a minimum of hospital admissions. In addition to medical interventions available for breathing and feeding, additional support is available to improve a baby s health and wellbeing and to provide emotional support for the family. When a baby is at home this may be provided by their GP, community nursing or palliative care team. Children s hospices also offer a wide range of services and support to in England and Wales Page 5 of 16

6 children with life-limiting conditions and their families throughout the UK. Details of local children s hospice and palliative care services are available from Together for Short Lives Helpline: Physiotherapy can provide passive exercises to enable movement that babies are unable to make independently. Parents can be taught these techniques so they can enjoy doing these with their baby at home between appointments. Passive exercises are also good for babies circulation and help prevent stiffening of the joints (contractures). Physiotherapists may suggest performing stretches and exercises when a baby is in the bath, swimming or hydrotherapy pool. Building these exercises into play can make them fun and babies enjoy the additional freedom of movement provided by warm water. Chest physiotherapy is also very important to help clear the chest when babies have difficulty coughing. Good posture management can improve comfort. An occupational therapist can advise on seating which will help to provide appropriate support for babies with low muscle tone. This will also make it easier for them to play. Sleep systems may sometimes be provided to increase comfort and support a baby s limbs in a good position at night time. What other help is available? In addition to the care and support provided by a child s medical team, Spinal Muscular Atrophy Support UK s Support Services team can provide information and support to families in the UK affected by SMA. Our Outreach Workers are able to visit families whose baby has been diagnosed with SMA Type 1. They offer personalised support and information, and are available to answer questions. They can help families understand SMA and can discuss the support they may be entitled to. We can put families in touch with one of our Peer Support Volunteers who has personal experience of living with SMA Type 1. Multisensory toy packs are available for babies diagnosed with SMA Type 1 in the UK. Information about these services is available on our website or please contact us on or supportservices@smasupportuk.org.uk The Muscular Dystrophy Campaign (MDC) provides information and assistance, including grants towards specialist equipment, for people affected by a range of neuromuscular conditions Details of the network of Regional Care Advisers attached to NHS neuromuscular clinics in various regions of the UK are available on the MDC s website: in England and Wales Page 6 of 16

7 Families living in the United Kingdom may be eligible for a number of financial benefits to help towards the cost of providing the extra care their child may need, depending on individual circumstances. For further information about financial benefits, visit the Gov.UK website (see sections Benefits and Carers and Disability Benefits ). The family s Health Visitor, Community Nurse, Neuromuscular Care Advisor, Family Support Worker or Social Worker may be able to assist with applications for financial benefits. In addition to statutory welfare benefits, there are also a number of charities that may assist with the cost of general household goods, specialist equipment and holidays / days out. SMA Support UK has more information on these possibilities. What does the future hold? Research is advancing in many areas. To find out more about SMA research, go to the research pages at The UK SMA Patient Registry is a database of genetic and clinical information about people affected by SMA. Promising new treatments for SMA are being developed. These need to be tested in clinical trials but because SMA is a rare condition it can sometimes take years to find enough patients for a clinical trial. The SMA Patient Registry can speed this up. The Registry also helps specialists gain more knowledge about the condition and the number of people affected by SMA. This information helps to develop and improve worldwide standards of care for people with SMA. You can find out more by contacting registry@treat-nmd.org.uk or phone: Further Resources For more detailed support and information about SMA Type 1 please go to: The Route Map for SMA at Standards of Care for Spinal Muscular Atrophy (TREAT-NMD) This booklet describes best practice management and treatment for the more common forms of SMA. It is used by doctors but is also available to families. A hard copy can be obtained from Spinal Muscular Atrophy Support UK. It can also be downloaded from the TREAT-NMD website The UK SMA Patient Registry This leaflet describes the work of the Registry and how to sign up. A hard copy can be obtained from Spinal Muscular Atrophy Support UK. It can also be downloaded from in England and Wales Page 7 of 16

8 Please also see our other Information Sheets: Spinal Muscular Atrophy Information for Families Looking After Your Baby Toys Who s Who of Professionals Spinal Muscular Atrophy Support UK: Information and Support leaflet The Outreach Service leaflet These can be downloaded from our website or hard copies can be requested by phoning or ing the support services team on: supportservices@smasupportuk.org.uk in England and Wales Page 8 of 16

9 Glossary of Terms Aspiration Food or fluid that is breathed into the airway / lungs. Atrophy The wasting or shrinkage of a part of the body. SMA is called spinal muscular atrophy because the lower motor neurones within the spinal cord degenerate, which leads to the wasting of skeletal muscles. Bulbar muscles Muscles around the mouth and throat. When these muscles are affected, swallowing and speaking become more difficult. Carrier A person who has both a faulty copy of a gene and a healthy copy. Carriers usually have no symptoms due to the presence of the healthy copy, but may pass on a condition to their children. In the case of SMA, carriers have one abnormal copy of the SMN1 gene and one normal copy of SMN1. Two individuals who each carry the SMN1 mutation have a 25% chance of having a child with SMA each time they conceive. A child must inherit two copies of the abnormal SMN1 gene to develop SMA, one copy from each parent. Cell The basic structural and functional unit or building block of all known living organisms. A group of cells can work together to perform a common function to form a tissue. Cells come in many different forms such as motor neurons (a type of nerve cell), keratinocytes (main cell type of the skin), or erythrocytes (red blood cells). Humans have an estimated 100 trillion cells. Central nervous system The brain and spinal cord. Chromosomes Cylindrical shaped bundles of DNA in the cell nucleus (the core or centre of a cell). They consist of long, threadlike strands of DNA coiled upon themselves many times. Humans have 46 chromosomes in each cell; they inherit 23 from their mother and 23 from their father to make 23 pairs. The only exceptions are sperm and egg cells which contain just 23 chromosomes each. Genes are located on the DNA which is packaged into the chromosome 'bundles'. The number of chromosomes can differ between species, for instance, chimpanzees possess 48 and dogs 78. in England and Wales Page 9 of 16

10 Clinical Relating to the observation and treatment of patients rather than laboratory studies. Clinical trial A trial done on humans, usually to test a treatment or intervention or find out more about a disease. Contracture A tightness in the connective tissue and tendons around a joint that results from weakness and inability to move a joint through its full range of motion. Deletion Genetic material (part of the DNA) missing from a chromosome or gene. This can cause disease. Diagnosis Identifying a disease from its signs and symptoms or from its genetic cause. A clinical diagnosis is given when a doctor sees enough signs or symptoms to be confident that a person has the disease in question. In genetic diseases, a genetic diagnosis is given when a genetic test has been done and the fault in the gene that is known to cause the disease is found. Doctors who are experts in SMA can usually diagnose the condition with a high degree of accuracy from the clinical signs and symptoms alone, but genetic tests are usually recommended for all genetic diseases to increase certainty and to make sure the person has the "right" disease for any treatment. Diaphragm Large, thin sheet of muscle that separates the chest from the stomach. This is an important muscle for breathing. Distal Anatomical term of location meaning situated away from the centre of the body, towards the extremities. Distal muscles, such as those found in the hands and feet, are less affected by SMA compared to proximal muscles (those close to the centre of the body e.g. those in the hips, shoulders and neck). DNA Deoxyribonucleic acid (DNA) is the molecule that contains the genetic instruction manual to build all known organisms. Short stretches of DNA sequence that code this information are known as genes. DNA is often compared to a set of blueprints or a recipe, or a code, since it contains the instructions needed to construct other components of cells, such as proteins. DNA consists of nucleotides, the specific sequence of which determines the properties of the proteins made from the genes. Within cells, DNA is organised into structures called chromosomes. in England and Wales Page 10 of 16

11 Electromyogram (EMG) A test that assesses the electrical activity of the muscles and the nerves controlling the muscles. It is used to help diagnose neuromuscular disorders. There are two kinds of EMG in widespread use: intramuscular (needle) and surface EMG. To perform intramuscular EMG, a needle electrode or a needle containing two fine-wire electrodes is inserted through the skin into the muscle tissue. Intramuscular EMG may be considered too invasive or unnecessary in some cases and an electrode placed on the surface of the skin is used instead. Endotracheal tube (ET tube) A flexible plastic tube put into the trachea (windpipe) through the mouth or nose. An endotracheal tube maintains an open airway to allow for the passage of air, oxygen or anaesthetic gases. Gastrostomy tube (G tube) Feeding tube placed in the stomach through a surgical procedure. Sometimes referred to as a PEG. Surgical placement of a feeding tube may be done if there will be a long-term need for feeding that bypasses the upper digestive tract. Gene A stretch of DNA sequence that carries the information to produce a specific protein. Genes are the unit of heredity that are passed from one generation to the next. We usually possess two copies of each gene, one inherited from each of our parents. When genes are altered through mutation, this can affect the structure and function of the proteins that they produce, leading to disease. Genetic counselling Information and support provided by a specialist to people who have genetic conditions in their families or are concerned about a genetically transmitted condition. Genetic counselling helps families understand things like how the condition is passed on, what the chances are of children being affected, and which other family members may be at risk of carrying the affected gene. Genetics The study of genes and inheritance. Heredity The passing of traits through the inheritance of genes from one generation to the next. Hypotonia Low muscle tone. Hypoventilation Hypoventilation refers to a reduced rate and depth of breathing (too shallow or too slow) which leads to an increase of carbon dioxide (a waste gas) in the body. in England and Wales Page 11 of 16

12 Inheritance The process by which an individual acquires characteristics from his or her parents or ancestors. Intubation Procedure to insert an (endotracheal) tube into the mouth / nose for artificial breathing Invasive ventilation Breathing support provided using an endotracheal tube or tracheostomy tube. Mechanical ventilation The medical procedure used to aid or replace breathing when a patient is unable to breathe adequately themselves. This usually involves a ventilator machine or manual bag compression. Motor neurone (or motor neuron) The nerve cells that connect the brain and spinal cord to skeletal muscles allowing conscious movement. They act as a message delivery system: electrical signals originating in the brain are fired down the spinal cord along upper motor neurones and on to skeletal muscles via the lower motor neurones. Lower motor neurones are the main cell type affected by SMA. Muscle biopsy Removal of a small amount of muscle tissue for examination. Mutation A permanent change in the DNA sequence of a gene that can be inherited by subsequent generations. Dependent upon where a mutation occurs within the gene, it can have no effect on the protein produced, or can disturb the protein's function causing a genetic disorder such as SMA. Nasogastric tube Thin, flexible tube inserted through the nose, with the end of the tube reaching into the stomach. Nasojejunal tube Thin, flexible tube inserted through the nose, with the end of the tube reaching the jejunum (a part of the small intestine). Nerve cell Also called neurones, nerve cells are electrically excitable cells that allow the quick transmission of signals throughout the body. Different types of nerve cell make up the nervous system, which functions to allow us to respond and react to our surroundings. For example, the brain sends a signal down the nerves to tell a muscle to contract. in England and Wales Page 12 of 16

13 Neuromuscular Anything that relates to the nerves, muscles, or the nerve-muscle junction. Non-invasive ventilation (NIV) Breathing support provided using a facial or nasal mask. Palliative care Palliative care for children is the active total care of the child's body, mind and spirit, and also involves giving support to the family. It begins when a life-limiting illness is diagnosed, and continues regardless of whether or not a child receives treatment directed at the disease (World Health Organisation definition, 1998a). Palliative care can be provided in a variety of settings including hospitals, hospices and the child s home. Protein Consisting of chains of amino acids arranged in very specific orders, proteins are the building blocks of our bodies: fundamental components of living cells that are required for the structure, function, and regulation of cells, tissues and organs. The order of amino acids within a chain is determined by the genetic code (DNA), and different genes have the "instructions" for making different proteins. Proteins possess unique functions within a cell, and examples include enzymes, hormones, antibodies and the survival motor neuron (SMN) protein. Proximal Anatomical term of location meaning situated close to the centre of the body. Proximal muscles, such as those found in the hips, shoulders and neck, are more affected by SMA than distal muscles, such as those in the hands and feet. Rare Disease The EU considers diseases to be rare when they affect not more than 5 per 10,000 persons in the European Union. 4 Reflux When liquid backs up into the oesophagus (gullet) from the stomach. Respiratory Relating to breathing. Sensory nerves Nerve cells responsible for converting external stimuli (e.g. sound, light, smell) from the environment into internal signals. This is how we feel, see and hear. Spinal Relating to the spine. in England and Wales Page 13 of 16

14 Spinal cord The bundle of nervous tissue, which includes nerve cells and supporting cells and tracts, that extends out from the brain. The brain and spinal cord make up the central nervous system (CNS). Survival motor neurone gene (SMN gene) Mutations in the SMN gene are the cause of some forms of spinal muscular atrophy (SMA). There are two types of SMN genes, SMN1 and SMN2. Survival Motor Neuron (SMN) protein Produced from both the SMN1 and SMN2 genes, the SMN protein is required for the survival of lower motor neurons. Complete absence of SMN protein is deadly to all different types of cell, but at low levels, the lower motor neurons appear to be the most severely affected cell type. Survival Motor Neuron 1 (SMN1) The gene that when mutated leads to the development of SMA. SMN1 produces the fulllength SMN protein, which we need a certain level of in order for our lower motor neurons to survive and thrive. Survival Motor Neuron 2 (SMN2) The gene that can modulate the severity of SMA because it is able to produce a small amount of functional full-length SMN protein. In people with a defect in the SMN1 gene, this can be important because the more copies of SMN2 that someone has, the more functional SMN protein they can produce. Patients with more severe forms of SMA (Type I/II) usually have fewer copies of the SMN2 gene than patients with Type III SMA. Symmetrical Same on both sides of a central point. Tracheostomy Surgical operation to create an opening into the windpipe to allow breathing through a tube, rather than the mouth. in England and Wales Page 14 of 16

15 References 1. Lunn, M.R. and Wang, C.H. (2008) Spinal muscular atrophy, The Lancet, 371(9630), pp Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscular atrophy-determining gene, Cell, 80(1), pp Dubowitz, V. (1999) Very severe spinal muscular atrophy (SMA Type 0): an expanding clinical phenotype, European Journal Paediatric Neurology, 3(2), pp Commission of the European Communities (2008) Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee to the Regions on Rare Diseases: Europe s challenges. Available at: Other sources used: K.Swoboda, J.Kissel, T.Crawford, M.Bromberg, G.Acsadi, G.D Anjou, K.Krosschell, S.Reyna, M.Schroth, C.Scott, L.Simard, Perspectives on clinical trials in spinal muscular atrophy J Child Neurol : K.Aton, R.Hurst Davis, K.C.Jordan, C.B.Scott, K.J.Swoboda, Vitamin D intake in spinal muscular atrophy type 1 cohort: correlations with bone health J Child Neurol published online 17 th January 2013 A.Nadeau, G.D Anjou, G.Debray, Y.Robitaille, L.Simard and M.Vanasse, A newborn with Spinal Muscular Atrophy Type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy J Child Neurol :1301 H.Roper, R.Quinlivan on behalf of workshop participants, Implementation of the consensus statement for the standard of care in spinal muscular atrophy when applied to infants with severe type 1 SMA in the UK Arch Dis Child : TREAT-NMD Neuromuscular Network, Standards of Care for Spinal Muscular Atrophy M.Chatwin, A.Bush, A.K.Simonds, Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy Arch Dis Child : in England and Wales Page 15 of 16

16 C.H.Wang, R.S.Finkel, E.S.Bertini, M.Schroth, A.Simonds, B.Wong, A.Aloysius, L.Morrison, M.Main, M.A.Thomas, T.O.Crawford, A.Trela and participants of the International Conference on SMA Standard of Care, Consensus statement for Standard of Care in Spinal Muscular Atrophy J Child Neurol : A.Bush, J.Fraser, E.Jardine, J.Paton, A.Simonds, C.Wallis, Respiratory management of the infant with type 1 spinal muscular atrophy Arch Dis Child : 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: or requested from supportservices@smasupportuk.org.uk Whilst every effort is made to ensure that the information in this publication is complete, correct and up to date, this cannot be guaranteed and Spinal Muscular Atrophy Support UK shall not be liable whatsoever for any damages incurred as a result of its use. Spinal Muscular Atrophy Support UK does not necessarily endorse the services provided by the organisations listed in our information sheets. in England and Wales Page 16 of 16