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.
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.
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.
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).
For children and adults with SMA, it can be important to have regular assessments of growth. An expert nutritionist or registered dietitian may recommend an appropriate diet, monitoring other factors such as weight, fluid, and nutrition intake – particularly calcium and vitamin D for bone health.
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 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 are typically used for individuals who need feeding tubes for only a short period of time and can be easily replaced.
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 individuals who require longer-term feeding support.
Scoliosis (curvature of the spine) is a common problem found in individuals with spinal muscular atrophy due to muscle weakness. An orthopedist may recommend postural support (bracing) or surgery for scoliosis.
Individuals 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. A proactive approach, including regular sessions of physical therapy, may help influence the progression of SMA. This may consist of exercises to help improve flexibility and overall function.
Learn more about specialized equipment at home
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 individual 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. For children with SMA, caregivers are key members of this team, and are encouraged to work closely with their child’s healthcare provider 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.
Neurologists are often the first doctors to meet with individuals suspected of having SMA, and should coordinate the multidisciplinary care team as needed. They specialize 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. Some 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.
Pulmonologists monitor an individual’s ability to breathe effectively and guide the treatment of breathing problems that may require medicines or specialized equipment to support. They help develop individualized treatment plans that are particularly important when a respiratory illness occurs, or if surgery is scheduled.
Nutrition is important for individuals with spinal muscular atrophy 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 spinal muscular atrophy.
Orthopedists specialize in the surgical and nonsurgical treatment of conditions of the bones, joints, and soft tissue. Individuals with spinal muscular atrophy may be at risk of certain orthopedic issues for which an orthopedist may recommend postural support (bracing) or surgery to treat.
Stretching and strength training is an important component of the preventive care approach for spinal muscular atrophy. Physical therapists, like Lisa V., 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.
Genetic counselors 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, and the available options in management and family planning.
While a physical therapist 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.
Child life specialists work closely with children and families in hospitals, providing nonmedical support and addressing questions or concerns. They can help siblings of affected children, offering counseling and therapeutic techniques in order to help children cope with traumatic events.
Anesthesiology is another important aspect in the care of individuals with spinal muscular atrophy who may have to undergo surgery such as tracheostomy or spinal stabilization. They handle planning of care before, during, and after surgery, as well as delivering anesthesia.
Psychologists can provide counseling and guidance on a wide range of psychological and social problems that may arise when dealing with SMA, including:
Medical geneticists often work with genetic counselors 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.
A pediatrician 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.