Dream team: Assembling your ideal SMA care squad
Because every person with spinal muscular atrophy (SMA) can have many different issues they may be dealing with, there isn’t a single combination of physicians and specialists who are involved in SMA care. So your SMA healthcare team won’t necessarily look like someone else’s.
Generally, though, your team will be made up of a comprehensive, coordinated multidisciplinary group of healthcare professionals who, depending on needs and SMA type, can help you or your child move and breathe better, maintain good mental health, and help manage symptoms.
In addition to a neurologist, who will likely coordinate your care with your input, other specialists may range from a pulmonologist and speech therapist to physical therapist and psychologist.
Neurologists are medical doctors who specialize in the diagnosis, treatment, and management of conditions that affect the brain and nervous system, such as SMA. Pediatric neurologists treat children who have these conditions.
SMA care: The neurologist will typically coordinate multidisciplinary care as needed, monitor disease progression, discuss treatment options, make recommendations, and generally help you understand this rare genetic condition.
A child with SMA — the disorder primarily begins in childhood — will likely go to a pediatric neurologist for primary care.
When to see: If symptoms — which can include fatigue, breathing problems, scoliosis, and nutritional deficiencies, in addition to issues with motor function — change, return, or worsen, contact your neurologist. Unexpected or difficult-to-tolerate treatment side effects also may require a visit or even urgent care.
What to expect: The neurologist will periodically do tests for motor function to assess disease progression. They also may order other tests and prescribe or adjust therapies, often with input and assistance from other care team members.
A pulmonologist is a doctor who specializes in diagnosing and treating conditions, such as SMA, that affect the respiratory system (lungs).
SMA care: Because SMA can affect the respiratory muscles, a pulmonologist can evaluate your or your child’s respiratory function during a physical exam using a variety of tests. The pulmonologist can recommend the best therapeutic strategy based on your respiratory condition.
When to see: See a pulmonologist if breathing issues — which most commonly affect SMA types 0, 1, or 2 due to muscle weakness — worsen or cause complications such as difficulty clearing respiratory secretions, obstructive sleep apnea, and lung infections. Patients with SMA type 1 or 2 are more likely to develop severe scoliosis, which also can cause breathing problems.
What to expect: The pulmonologist will recommend the best way to treat the breathing condition, which can include respiratory therapy and adaptive equipment such as assistive cough devices, ventilator, or bi-level positive pressure machine. They also will make recommendations for ongoing care.
A speech therapist, or speech-language pathologist, is a specialist who assesses, diagnoses, and treats speech, language, and swallowing disorders, such as those in SMA.
SMA care: A speech therapist can help you or your child manage issues with speech, chewing, and swallowing that can occur due to weakness in the jaw and throat muscles.
When to see: If you start having speech, chewing, or swallowing problems, which can happen in both children and adults with SMA across disease types, or problems worsen.
What to expect: The therapist may do diagnostic tests to identify which muscles are not working properly. This will help them create an exercise program and recommend aids to help with doing everyday tasks.
For difficulties with eating and swallowing, the therapist also will recommend foods that may be easier to eat. If communicating is an issue, the therapist can provide nonverbal devices or strategies that can help.
The therapist often will work with other specialists, such as a nutritionist, to advise patients on the use of tube feeding, which allows patients to be fed via a tube leading directly into the stomach or small intestine.
For young patients, speech therapy can help with delays in language-skill development.
A physical therapist (PT), or physiotherapist, focuses on a person’s ability to move their body, while an occupational therapist (OT) works on improving the ability to do day-to-day tasks.
When to see: A PT can help improve muscle strength, range of motion, flexibility, and balance. Such therapy also can help maintain or improve posture, lower stress levels, and prevent contractures.
Get the help of an OT, who will usually work with your PT, for adjustments aimed at helping you or your child manage everyday life.
What to expect: Following an assessment of function, the PT will design a personalized exercise routine that ensures optimal safety and mobility.
An OT will do an evaluation of abilities and devise strategies for navigating day-to-day life. Such strategies may require assistive equipment for tasks such as getting dressed, sitting up, and using stairs.
The OT can recommend aids and adaptations including a walker, wheelchair, adaptive tricycle, adaptive stroller, or orthotics (splints and braces).
A gastroenterologist is a medical doctor who specializes in conditions that affect the digestive system.
SMA care: SMA can cause gastrointestinal problems that can lead to problems with nutrition or even malnutrition. Problems include diarrhea, vomiting, abdominal swelling, and constipation. Gastroesophageal reflux disease is common in SMA types 1 and 2, and can be worsened by scoliosis, which can increase the risk of aspiration pneumonia (when food or drink enters the respiratory tract instead of being swallowed).
When to see: Consider making an appointment with a gastroenterologist if you start having digestive-related problems or they linger or worsen.
What to expect: A gastroenterologist will evaluate your condition, factoring in your medical history and recent treatments, and may recommend tests or procedures. They also coordinate with your nutritionist.
A nutritionist specializes in the use of food and nutrition for management of various conditions and improving overall health.
SMA care: Children with SMA commonly experience gastrointestinal and nutritional problems, which can lead to various related diseases and is associated with a failure to thrive.
SMA can cause weakness in the muscles of the throat and jaw, which can make it difficult to chew and swallow food. Poor nutrition can further weaken muscles, potentially worsening muscle weakness and breathing issues.
When to see: SMA patients who have problems chewing and swallowing food should go to a nutritionist, as should those who are gaining excess weight due to limited mobility.
A feeding tube may be needed to ensure adequate nutrition for those who have limited ability to swallow and for babies with difficulties sucking.
What to expect: Following an evaluation, the nutritionist and a dietician may together create a personalized diet. Factors that may be considered include basal metabolic demands as well as body composition and requirements for PT, any surgery or acute illness, and the day-to-day use of adaptive equipment. If a feeding tube is required, the nutritionist and dietician can collaborate to ensure proper use and nutrition.
An orthopedist is a specialist who focuses on disorders and injuries that affect the musculoskeletal system (muscles, bones, joints, and soft tissues).
SMA care: Patients sometimes need surgery to treat scoliosis, although orthopedists also can use nonsurgical techniques for some musculoskeletal issues caused by muscle weakness.
When to see: Go to an orthopedist if you or your child has scoliosis or other bone or joint issues including hip dislocation, joint contractures, weak or fracture-prone bones, or deformities of the joints, chest, feet, and hands, which are especially common in more severe SMA types. Back weakness can make it difficult to move, sit up, or stand.
What to expect: Depending on the reason for your visit, the orthopedist may do an examination, order tests, and work with other members of your care team regarding recommendations or next steps.
A psychologist is a mental health professional who uses psychological evaluations and talk therapy to help people better manage life and mental health conditions.
SMA care: Coping with the changes in your physical abilities, and the possible need for support in daily life, can be daunting and affect mental health. Infants and children with SMA types 1, 2, and 3 have been shown to experience depression and anxiety.
When to see: Get help if you or your child are experiencing mental health issues such as depression and anxiety, or feel scared, angry, sad, or uncertain about the future.
What to expect: To make an evaluation, a psychologist will ask about social support as well as any changes in appetite, sleeping habits, or other behaviors. They then will work with you or your child to create a treatment plan.
To help find specialists, you may wish to contact a teaching hospital that’s affiliated with a local university, as it will likely be knowledgeable about rare conditions such as SMA. For more about recommended specialists and SMA, you may also want to explore the Muscular Dystrophy Association, Cure SMA, and the forums, news, and columns of SMA News Today
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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