While spinal muscular atrophy has a single genetic cause, presentation, progression, needs, and availability of specialties can vary widely. Clinical specialties involved in a care team may vary based on individual needs.1,2

The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy serves as a guideline for managing common medical concerns in individuals with spinal muscular atrophy.2

The following is an example of a care team for educational purposes only.
Care team members may vary for individuals with spinal muscular atrophy.

Tap on a care team member to learn more about their role.

SMA Pediatric Neurologist

Neurologist*

Neurologists are often the first specialists to meet with individuals who have spinal muscular atrophy.2

Primary concerns may include:
  • Diagnosis
  • Further evaluation
Common assessments may include:
  • Neurological examination
  • Genetic testing and analysis for confirmatory diagnosis
  • Electromyography (EMG) or nerve conduction studies as part of the differential diagnosis
Short- and long-term management may include:
  • Communicate with multidisciplinary care team
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SMA Pediatric Pulmonologist

Pulmonologist

Pediatric pulmonologists, like Dr Schroth, work closely with children with spinal muscular atrophy who may have decreased respiratory function, underdeveloped lungs, and difficulty clearing secretions.3

Primary concerns may include2:
  • Impaired cough, resulting in poor clearance of airway secretions
  • Hypoventilation during sleep
  • Chest wall and lung underdevelopment
  • Recurrent infections
Common assessments may include2:
  • Pulmonary function (majority of nonsitters may be too weak or young to test)
  • Cough peak flow
  • Respiratory muscle strength
  • Chest x-ray
  • Sleep study
  • Swallow function evaluation
Short-term management may include2:
  • Chest physiotherapy (CPT)
  • Use of BiPAP machine during sleep
  • Use of cough assist machine and/or other secretion-clearing machines
Long-term management
may include2:
  • Tracheostomy

For related information about caring for individuals with SMA, click here.

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SMA Physical Therapist

Physical Therapist

Exercise and the use of orthotics and other rehabilitative equipment may be recommended by physical therapists like Lisa V. These decisions may be based on the age of the individual with spinal muscular atrophy, neuromuscular involvement, and developmental stage.3

Primary concern2:
  • Contracture of muscles can cause discomfort and pain, as well as decreased mobility and independence
Common assessments
may include2:
  • Evaluation of range of motion, muscle strength, and mobility
    • —Tests include goniometry, manual muscle testing, or myometry
    • —Spine and hip radiographs are also consulted
  • Evaluation of equipment, assistive technology, and environmental access
Short- and long-term management may include2:
  • Range of motion exercises (for contracture)
  • Stretching/bracing (for flexibility)
  • Fitting of orthotics, splints, or braces
  • Leisure, adaptive sport, and play activity
  • Exercise (eg, swimming)
  • Weight-bearing time with standing devices
    • —Standing devices may be supine, prone, or dynamic (allowing movement)3
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SMA Orthopedist

Orthopedist*

Muscular weakness often leads to orthopedic issues in individuals with spinal muscular atrophy, resulting in skeletal misalignment and difficulty with movement, which may require intervention by an orthopedist.2

Primary concerns may include2:
  • Limited mobility of trunk and extremities
  • Contractures
  • Spinal deformity
  • Limited mobility
  • Limited ability to perform activities of daily living (ADLs)
  • Increased risk of pain
  • Increased risk of osteopenia
  • Increased risk of fractures
Common assessments
may include2:
  • Range of motion
  • Strength
  • Motor function
  • Seating and mobility
  • Potential benefit of orthotics
  • Radiographs of the spine and other joints
Short-term management
may include2:
  • Positional support (eg, bracing)

Long-term management
may include2:
  • Surgery to help correct spinal curvature due to scoliosis

For related information about caring for individuals with SMA, click here.

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SMA Dietitian

Dietitian*

Individuals with spinal muscular atrophy may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and/or poor nutrition. These issues may require the guidance of a dietitian with experience in spinal muscular atrophy.4

Primary concerns may include2:
  • Feeding and swallowing problems, potentially resulting in aspiration pneumonia, which can be fatal
  • Growth deficit and undernutrition
  • Obesity, which is more common in non-ambulatory patients

A dietitian may consult with other healthcare providers (eg, gastroenterologists, surgeons, speech therapists) about short- and long-term management of feeding and pharmacologic issues.

Short-term management
may include4:
  • Nasogastric tubes
  • Nasojejunal tubes
  • Pharmacologic interventions (prokinetics, proton pump inhibitors, etc)
Long-term management
may include2,4:
  • Gastrostomy tube (G-tube)
  • Nutritional support
  • Pharmacologic interventions (prokinetics, proton pump inhibitors, etc)

For related information about caring for individuals with SMA, click here.

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Spinal Muscular Atrophy Caregiver

Parent/Caregiver

Parents/caregivers of children with spinal muscular atrophy, such as Dany and Terence S., often become experts in their child’s care and are important members of the multidisciplinary care team.

  • They develop a high level of knowledge about the disease and progress of their individual child
  • They are highly mobilized, making frequent use of the internet and social media for both medical and social support
  • They deliver the majority of the healthcare interventions their children receive on a day-to-day basis, including respiratory support, cough assistance, and nutrition/feeding
  • Parents are often the key drivers of the interventions their children will or will not receive

The information above is based on opinions and experiences compiled from parents and caregivers of children with spinal muscular atrophy and should not be relied on as an alternative to medical advice from a healthcare professional.

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*Actor portrayal.

How can individuals with SMA or their caregivers assemble a multidisciplinary care team?

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