In 2007, the Journal of Child Neurology published the “Consensus Statement for the Standard of Care in SMA” and the “Family Guide to Consensus Statement for Standard of Care in SMA.” In 2018, updates were published for the SMA standard of care:
These guidelines are summarized in the following recommendations for care management of SMA, or can be found here.
Confirm the Diagnosis of Illness: A simple blood test can confirm whether or not a child has a mutation that causes SMA. If it is a positive gene test, then the child’s diagnosis is confirmed. Although, 5% of children with the symptoms of SMA can have a negative SMN gene test and may require additional diagnostic testing. These tests can include an electromyography study (EMG), nerve conduction study (NCS), and/or a muscle biopsy and blood tests to help rule out other forms of muscle disease. If a positive test is confirmed, then it is important for families to discuss these results with their doctor or genetic counselor. Individualized planning for patients is very important, to help the family understand and prepare for daily life, as well as how to respond to medical emergencies that they could encounter in the course of the child’s life.
Manage Breathing Problems: Respiratory problems are primary causes of illness and the most common cause of death for children with SMA Type 1 and 2. It is important to learn about maintaining a clear airway for all SMA patients, discuss breathing and support options with the medical team, develop a care plan with the medical team to prevent any issues, and work with the medical team to develop a care plan for responding to acute illness, such as a cold or flu to minimize the effects of respiratory infection.
Manage Feeding and Nutrition Issues: Patients with SMA are more susceptible to suffering from under- or over-nutrition, and this can impact a child’s life. It important for the medical team, including nutritionists, dieticians, and/or therapists specializing in speech to monitor the child’s growth and work with the family to develop a personalized feeding and nutrition for the child. The medical team should work with the family on solutions for any swallowing, gastric reflux, or constipation issues. It is important for the medical team to monitor any eating or digestive problems if they arise that could lead to aspiration pneumonia and work with the family.
Manage Movement and Daily Activities: Muscle weakness in SMA will vary for each individual depending on the disease severity. Physical therapists, occupational therapists, speech therapists and/or rehabilitation specialists are the experts who can help the family and the rest of the medical team design the best care plan for the child. A physical therapist can design an individualized physical therapy plan to support function and help slow additional complications. It is also important to consult with the medical team about evaluation from an orthopedic specialist.
Prepare for Illness: It is important for families to plan for how to prevent emergencies. When an emergency occurs, it is important to have a knowledgeable healthcare team’s support. Families should share their plans and management goals with all healthcare professionals involved in the care of their child.