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 2018 Diagnosis and Management of Spinal Muscular Atrophy Parts 1 and 2 provide updated recommendations for managing aspects of care of 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 healthcare providers to meet with individuals suspected of having SMA, and should coordinate the multidisciplinary care team as needed.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*

Pulmonologists work closely with individuals with spinal muscular atrophy who may have decreased respiratory function, underdeveloped lungs, and difficulty clearing secretions.3

Primary concerns may include4:
  • Impaired cough, resulting in poor clearance of airway secretions
  • Hypoventilation during sleep
  • Chest wall and lung underdevelopment
  • Recurrent infections
Common assessments may include4:
  • Pulmonary function (majority of non-sitters 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 include4:
  • Chest physiotherapy (CPT)
  • Use of BiPAP machine during sleep
  • Use of cough assist machine and/or other secretion-clearing machines
Long-term management
may include4:
  • 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 proactive techniques and rehabilitative equipment may be recommended by physical therapists. 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 include5:
  • Surgery to help correct spinal curvature due to scoliosis
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SMA Genetic Counselor

Genetic Counselor*

Genetic counselors provide information on the consequences and genetic background of spinal muscular atrophy. Advising families on the likelihood of developing or transmitting the disease, genetic counselors assist in providing proactive options in management and family planning.6

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SMA Occupational Therapist

Occupational Therapist*

While physical therapists assist with increasing overall mobility, an occupational therapist increases SMA patients’ independence in specific tasks such as dressing, bathing, or handling utensils. They may recommend adaptive equipment or home modifications, such as the installation of ramps or widening of doorways.7

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SMA Psychologist

Psychologist*

Psychologists provide counseling and guidance on a wide range of psychological and social problems that may arise when dealing with SMA, including8:

  • Coping with stresses
  • Psychological difficulties for or involving family members of individuals with spinal muscular atrophy
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SMA Speech Therpist

Speech Therapist*

The same muscles in the mouth and throat are used for both speech and swallowing, making both difficult for patients with SMA. Therefore, speech therapists can provide vital service in helping patients with their speech, chewing, and swallowing through use of technology and other equipment.9

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SMA Dietitian

Dietitian/Nutritionist*

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 include5:
  • Nasogastric tubes
  • Nasojejunal tubes
  • Pharmacologic interventions (prokinetics, proton pump inhibitors, etc)
Long-term management
may include2,5:
  • 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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*Actor portrayal.
Types II and III SMA.
Spinal Muscular Atrophy Caregiver

Parent/Caregiver

Parents/caregivers of individuals with spinal muscular atrophy, such as Dany and Terence S., often become experts in SMA 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
  • 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 patients with 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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REFERENCES

1. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd Ed. London, UK: Elsevier; 2015. 2. Mercuri E, Finkel RS, Muntoni F, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115. 3. Finkel RS, Mercuri E, Darras BT, et al; for the ENDEAR Study Group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723-1732. 4. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. http://columbiasma.org/pt-ot.html. Updated March 14, 2013. Accessed April 18, 2016. 5. Cure SMA. Tube feeding and SMA: recommendations and practices. http://www.curesma.org/documents/support--care-documents/2015-conference-tube-feeding.pdf. Published June 20, 2015. Accessed April 25, 2016. 6. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Genetic Counseling. https://www.ncbi.nlm.nih.gov/books/NBK115552/. Accessed September 11, 2018. 7. Oleszek JL. Kugelberg Welander spinal muscular atrophy treatment & management. https://emedicine.medscape.com/article/306812-treatment. Updated April 27, 2016. Accessed September 11, 2018. 8. American Psychological Association. Clinical child psychology. http://www.apa.org/ed/graduate/specialize/child-clinical.aspx. Accessed September 11, 2018. 9. SMA News Today. The importance of speech-language pathologists for neuromuscular disorder patients. https://smanewstoday.com/2017/06/26/importance-speech-language-pathologists-sma-patients/. Updated June 26, 2017. Accessed September 11, 2018.

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

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