Every individual with SMA will experience symptoms differently, and there are many aspects to care. Be sure to contact your healthcare provider if you have any questions about appropriate care options.
SMA respiratory care
Respiratory care is a central focus in SMA. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection.
Noninvasive SMA 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 individuals cough and clear secretions.
SMA nutrition and diet
Muscle weakness may cause some individuals with SMA 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. A healthcare provider may recommend a temporary or long-term feeding tube be put into place to provide the necessary nutrition and hydration.
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 can be easily replaced and are typically used for individuals who need feeding tubes for only a short period of time.
Percutaneous endoscopic gastrostomy (PEG) tubes are placed surgically through the abdomen and into the stomach. They are relatively easy to maintain, which makes them a preferable option for individuals who require longer-term feeding support.
Physiotherapy for SMA
Individuals with SMA 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. Physiotherapy 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.
Learn more about specialised equipment at home
Care team roles and responsibilities
The current guidelines of care for individuals with SMA suggest that care is best accomplished with the help of many specialists and primary care providers. Because every individual with SMA is different, the care team members, as well as their level of involvement, may change over time according to individual needs and circumstances. For children with SMA, parents are key members of this team, and are encouraged to work closely with their child’s healthcare providers in determining a care team that works best for them.
The following is an example of a care team for educational purposes only. The members of a care team may vary for individuals with SMA, including some healthcare professionals who may not be listed below.
Click on a care team member to learn more about their role
Nurses in neuromuscular clinics are the experts and coordinators of care for SMA. Nurses have an important role in the ongoing assessment of each patient’s health status and their response to their care plan. They also provide practical and emotional support for families, offering advice and information to help meet the needs of those affected by SMA.
Child life therapist
Child life therapists work closely with children and families in hospitals, providing nonmedical support and addressing questions or concerns. They can help siblings of affected children, offering counselling and therapeutic techniques in order to help children cope with traumatic events.
Psychologists can provide counselling and guidance on a wide range of psychological and social problems that may arise when dealing with SMA, including:
- Emotional and developmental problems
- Coping with stresses
- Psychological difficulties for siblings
Genetic counsellors can provide information on the consequences and genetic background of SMA. They can advise families on the likelihood of developing or passing on the disease, and the available options in management and family planning.
Medical geneticists often work with genetic counsellors as part of an SMA care team. They may order lab tests to diagnose the genetic cause of a disease, or suggest genetic carrier testing for other family members. They can also counsel parents and siblings, providing guidance on genetic risks and treatment options, if available.
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.
Anaesthetics is another important aspect in the care of individuals with SMA who may have to undergo surgery such as 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.
For parents of school-aged children with SMA, a school nurse can be an important first-line caregiver given the risk of respiratory illness.