SMA is complex and requires the care and support of many professionals. As each 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.
A multidisciplinary team of healthcare professionals is essential for all people with SMA. 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 illustrative purposes only. The members of a care team may vary for individuals with SMA, including some healthcare professionals who may not be listed below.
Neurologist or paediatric neurologist
Neurologists specialise in the diagnosis and treatment of disorders of the nervous system (brain, spinal cord, muscles, nerves) and are often the first doctors to meet with people or parents of children suspected of having SMA. 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 SMA.
Respiratory physicians monitor an individual’s ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialised equipment for support. They help develop individualised treatment plans that are particularly important when a respiratory illness occurs, or if surgery is scheduled.
Nutrition is important for individuals with SMA in order to promote growth and motor function. Individuals 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 individuals with SMA.
Orthopaedic surgeons and/or specialists specialise in the surgical and nonsurgical treatment of conditions of the bones, joints, and soft tissue. Individuals with SMA may be at risk of certain orthopaedic issues for which an orthopaedic surgeon/specialist may recommend postural support (bracing) or surgery to treat.
Stretching and strength training is an important component of the preventive care approach for SMA. Physiotherapists may evaluate an individual’s range of motion, muscle strength, and mobility. They can also recommend exercises or assistive devices to help maintain the best posture for breathing and eating.
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 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:
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.