There are many aspects to care and the decisions parents need to make are difficult, as every child will experience symptoms differently. The level of care provided must be decided by the parents and the child’s physicians, and can change depending on circumstances and the goal of the supportive care. Be sure to contact your physician if you have questions about appropriate care options.1
Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. Respiratory care options can involve noninvasive or invasive techniques.2
Noninvasive respiratory care involves techniques that avoid or delay the use of invasive intervention. Special equipment such as a ventilator or bilevel positive airway pressure (BiPAP) machine can deliver a continuous flow of air to the lungs through a mask that covers the mouth and/or nose. A cough assist device may also be used at home to help children cough and clear secretions.1,3
Invasive respiratory care provides a secure airway to the lungs via an endotracheal tube that goes through the mouth (intubation) or directly into the trachea through a small incision in the neck (tracheotomy).4
Muscle weakness may cause children with spinal muscular atrophy to lose their ability to chew and swallow effectively. This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. Parents may choose to have a temporary or long-term feeding tube put into place with the goal of providing the child with the necessary nutrition and hydration.5
In general, there are 2 types of feeding tubes: nasal and abdominal.
Nasogastric (NG) tubes enter the nose and feed directly into the stomach. These are typically used for children who need feeding tubes for only a short period of time and can be easily replaced.1,6
Gastrostomy (G) tubes are placed surgically through the abdomen and into the stomach. They are relatively easy to maintain, which makes them a preferable option for children who require longer-term feeding support.7,8
Children with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion. This can put them at risk of developing contractures, or tightness of the muscles, which can become permanent and prevent movement. Physical therapy may consist of exercises to help improve flexibility and overall function. When appropriate, a stander may improve bone strength and can be used at home to help children maintain flexibility at the hips, knees, and ankles.2
Learn more about specialised equipment at home
Care team roles and responsibilities
The current guidelines of care for individuals with spinal muscular atrophy suggest that care is best accomplished with the help of many specialists and primary care providers. Because every child with spinal muscular atrophy is different, the members, as well as their level of involvement, may change over time according to individual needs and circumstances. As key members of this team, parents are encouraged to work closely with their child’s doctor in determining a care team that works best for them and their family.1
The following is an example of a care team for educational purposes only.
Care team members may vary for individuals with spinal muscular atrophy.
Click on a care team member to learn more about their role
Paediatric neurologists are often the first doctors to meet with parents of children suspected of having spinal muscular atrophy. They specialise in the diagnosis and treatment of disorders of the nervous system (brain, spinal cord, muscles, nerves) and are a vital part of the care team. Neurologists may conduct electromyography or nerve conduction studies to rule out other forms of muscle disease if a child has a negative gene test for spinal muscular atrophy.1,10
Paediatric pulmonologists monitor a child’s ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialised equipment to support. They work with families to develop individualised treatment plans that are particularly important when a child is sick with cold or flu, or if surgery is scheduled.10
Nutrition is important for individuals with spinal muscular atrophy in order to promote growth and motor function. Children may experience over- or undernourishment, which can affect bone strength, growth, and overall mobility. Experts suggest working with a registered dietitian who is familiar with the nutritional needs of children with spinal muscular atrophy.10,11
Stretching and strength training is an important component of the preventive care approach. Physiotherapists may evaluate your child’s range of motion, muscle strength, and mobility. They can also recommend exercises or assistive devices to help your child maintain the best posture for breathing and eating.10,12
Child psychologists can provide counselling and guidance on a wide range of psychological and social problems that may arise, including:
- Emotional and developmental problems
- Coping with stresses related to school
- Psychological difficulties for siblings of children with spinal muscular atrophy
Genetic medical counsellor
Genetic counsellors can provide information on the consequences and genetic background of spinal muscular atrophy. They can advise families on the likelihood of developing or transmitting the disease, suggest genetic carrier testing for the parents and other children in the family, and the available options in management and family planning.
While a physiotherapist can assist with increasing overall mobility through exercise and assistive devices, an occupational therapist helps individuals increase their independence in specific everyday tasks like dressing, bathing, or handling utensils. They may recommend adaptive equipment or home modifications, such as the installation of ramps or widening of doorways.
Paediatric anaesthesiology is another important aspect in the care of children with spinal muscular atrophy who may have to undergo surgery such as tracheostomy or spinal stabilisation. They handle planning of care before, during, and after surgery, as well as delivering anaesthesia.
A paediatrician is a medical doctor who has been trained to diagnose and treat a broad range of childhood illnesses, from minor health problems to serious diseases.
An NMD nurse can be an important first-line caregiver given the risk of respiratory illness and works closely with children and families in hospitals. She can provide you with educational materials and connect you with support groups such as SMA Europe to improve your understanding of the disease.
1. Wang CH, Finkel RS, Bertini ES, et al; and Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. 2. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. Available at: http://columbiasma.org/pt-ot.html. Updated March 14, 2013. Accessed April 18, 2016. 3. Bach JR, Gonçalves MR, Hon A, et al. Changing trends in the management of end-stage neuromuscular respiratory muscle failure: recommendations of an international consensus. Am J Phys Med Rehabil. 2013;92(3):267-277. 4. Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics. 2009;123(suppl 4):S245- S249. 5. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931-1936. 6. Shlamovitz GZ et al. Nasogastric Intubation. Medscape. Available at: http://emedicine.medscape.com/article/80925-overview. Updated: Jul 26, 2016. Accessed January 9, 2017. 7. Blumenstein I, Shastri YM, Stein J. Gastroenteric tube feeding: techniques, problems and solutions. World J Gastroenterol. 2014;20(26):8505-8524. 8. Cure SMA. Tube Feeding and SMA: Recommendations and Practices. Available at: http://www.curesma.org/documents/support--care-documents/2015-conference-tube-feeding.pdf. Published June 20, 2015. 9. Prior TW, Russman BS. Spinal muscular atrophy. NCBI Bookshelf Website. http://www.ncbi.nlm.nih.gov/books/NBK1352/. Updated November 14, 2013. Accessed April 15, 2016. 10. Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials. A family guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. Available at: http://www.curesma.org/documents/research-documents/family-consensus-statement.pdf. Accessed May 2, 2016. 11. Cure SMA. Nutrition Basics – Fostering Health and Growth for Spinal Muscular Atrophy. 2016. Available at: http://www.curesma.org/documents/support--care-documents/nutrition-basics.pdf. Accessed January 9, 2017. 12. Oleszek JL, Caire ML. Kugelberg Welander muscular atrophy treatment & management. Medscape. Available at: http://emedicine.medscape.com/article/306812-treatment. Updated April 27, 2016. Accessed April 28, 2016.