Handling Medical Issues

A simple blood test can confirm whether or not an individual has a mutation that causes SMA. If it is a positive gene test, then the individual’s diagnosis is confirmed. Although, 5% of individuals 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 individuals and/or 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 individual’s life.

Respiratory problems are primary causes of illness and the most common cause of death for individuals 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.

Patients with SMA are more susceptible to suffering from under- or over-nutrition, and this can impact an individual’s life. It is important for the medical team, including nutritionists, dieticians, and/or therapists specializing in speech to monitor the individual’s growth and develop a personalized feeding and nutrition plan. The medical team should work with the individual and/or 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.

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 individual and/or family and the rest of the medical team design the best care plan. 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.

It is important for individuals and/or families to plan for how to prevent emergencies. When an emergency occurs, it is important to have a knowledgeable healthcare team’s support. Individuals and/or families should share their plans and management goals with all healthcare professionals on their care team.