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Best Practices in the Care of Adult Patients With Spinal Muscular Atrophy

  • Authors: Perry Shieh, MD, PhD; Sally Dunaway Young, PT, DPT; Ikjae Lee, MD; Tina Duong, PT, PhD
  • CME / ABIM MOC / CE Released: 1/20/2023
  • Valid for credit through: 1/20/2024
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  • Credits Available

    Physicians - maximum of 0.50 AMA PRA Category 1 Credit(s)™

    ABIM Diplomates - maximum of 0.50 ABIM MOC points

    Nurses - 0.50 ANCC Contact Hour(s) (0.25 contact hours are in the area of pharmacology)

    IPCE - 0.25 Interprofessional Continuing Education (IPCE) credit 

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    • Letter of Completion
    • ABIM MOC points

Target Audience and Goal Statement

This activity is intended for neurologists, orthopedists, orthopedic surgeons, physical therapists, nurses/nurse practitioners and primary care physicians.

The goal of this activity is for learners to be better able to identify the needs specific to adult patients with SMA, the role of key team members involved in the care of adult patients with SMA, and the impact of current therapeutics on adult patients with SMA.

Upon completion of this activity, participants will:

  • Have increased knowledge regarding the
    • Burden of disease for adult patients with SMA
    • Clinical data on the use of approved pharmacotherapies for the management of SMA in adult patients
    • Differential responsibilities relating to the care of adult patients with SMA between neurologists and advanced practice providers


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  • Perry Shieh, MD, PhD

    Professor of Neurology and Pediatrics
    University of California Los Angeles
    Los Angeles, California


    Perry Shieh, MD, PhD, has the following relevant financial relationships:
    Consultant or advisor for: Alexion; Biogen; Gene Therapies; Genentech; Novartis; Pfizer; Sarepta Therapeutics
    Speaker or member of speakers bureau for: Alexion; Argenx; Biogen; Catalyst; CSL Behring; Grifols; Genentech
    Research funding from: AMO Pharma; Astellas Gene Therapies; Biogen; Catalyst Pharmaceuticals; Fulcrum Therapeutics; Novartis Gene Therapies; Pfizer; PTC Therapeutics; ReveraGen BioPharma; Sarepta Therapeutics; Solid Biosciences

  • Sally Dunaway Young, PT, DPT

    Research Physical Therapist
    Clinical Research Manager
    Stanford University School of Medicine
    Palo Alto, California


    Sally Dunaway Young, PT, DPT, has the following relevant financial relationships:
    Consultant or advisor for: Biogen Idec; Roche; Scholar Rock
    Research funding from: Biogen; Ionis Pharmaceuticals

  • Ikjae Lee, MD

    Assistant Professor of Neurology
    Columbia University Irving Medical Center
    New York, New York


    Ikjae Lee, MD, has the following relevant financial relationships:
    Consultant or advisor for: Alexion

  • Tina Duong, PT, PhD

    Physical Therapist
    Director Clinical Outcomes Research & Development
    Division of Neuromuscular Medicine
    Stanford University School of Medicine
    Stanford, California


    Tina Duong, PT, PhD, has no relevant financial relationships.


  • Katherine Carpenter, PhD

    Medical Education Director, WebMD Global, LLC


    Katherine Carpenter, PhD, has the following relevant financial relationship:
    Advisor or consultant for: Eisai (former), GW Pharmaceuticals (former)

  • Yoji Yamaguchi, MA, ELS

    Scientific Content Manager, WebMD Global, LLC


    Yoji Yamaguchi, MA, ELS, has no relevant financial relationships.

  • Pakinam Aboulsaoud, ​PharmD​

    Senior Medical Education Director​, Medscape, LLC


    ​​Pakinam Aboulsaoud​, ​PharmD​, has no relevant financial relationships. 

  • Megan Breuer, PhD

    Medical Writer, Medscape, LLC


    Megan Breuer, PhD, has the following relevant financial relationships:  
    Consultant/advisor for: Paratek Pharmaceuticals, Inc. (former) 
    Owns stock (publicly traded) in: Bristol Myers Squibb Company; Johnson and Johnson; Paratek Pharmaceuticals, Inc; Vertex Pharmaceuticals, Inc. 

Compliance Reviewer/Nurse Planner

  • Lisa Simani, APRN, MS, ACNP

    Associate Director, Accreditation and Compliance, Medscape, LLC


    Lisa Simani, APRN, MS, ACNP, has no relevant financial relationships.

Peer Reviewer

This activity has been peer reviewed and the reviewer has disclosed no relevant financial relationships.

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Developed through a partnership between Medscape and Cure SMA.

In support of improving patient care, Medscape, LLC is jointly accredited with commendation by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

This activity was planned by and for the healthcare team, and learners will receive 0.25 Interprofessional Continuing Education (IPCE) credit for learning and change.

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Best Practices in the Care of Adult Patients With Spinal Muscular Atrophy

Authors: Perry Shieh, MD, PhD; Sally Dunaway Young, PT, DPT; Ikjae Lee, MD; Tina Duong, PT, PhDFaculty and Disclosures

CME / ABIM MOC / CE Released: 1/20/2023

Valid for credit through: 1/20/2024


The Physical Therapist’s Perspective on Working With Adult Patients With Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a recessively inherited neuromuscular disease affecting lower motor neurons, causing muscle weakness and motor function loss and, in its most severe form, can be fatal.[1] The clinical spectrum of SMA ranges from mild weakness, with few functional limitations and a relatively normal adult life, to severe weakness requiring the use assistive devices and powered mobility.[2] Comprehensive multidisciplinary care is necessary for optimal disease management. Physical therapy is recommended to address muscle weaknesses and imbalances involving the trunk, arms, and legs, which can limit motor function. These impairments contribute to contracture development, spinal deformity, impaired mobility, and reduced autonomy related to activities of daily living.[2] The role of the physical therapist in the multidisciplinary team has become less reactionary and more anticipatory with the approval of disease-modifying therapies for patients with SMA.[3] Medscape recently spoke with Dr Tina Duong, who is currently a physical therapist at the Stanford University School of Medicine, regarding the physical therapy needs of adult patients with SMA.

What competencies are required for physical therapists who help manage adult patients with SMA?

Physical therapists who work with adult patients with SMA should be aware of the natural history of the disease, as well as the swiftly changing dynamic options for treatment, and how these factors can impact their physical therapy trajectory. Physical therapists who work with patients with SMA should have competency in[1]:

  • Knowledge of practice
  • Patient management
  • Communication
  • Clinical reasoning
  • Professionalism
  • Patient education

Using these essential competencies can help physical therapists foster best-practice care and clinical decision-making in the care of adult patients with SMA in the clinical and research setting.[1]

How do the physical therapy needs of adult patients with SMA differ from those of pediatric patients?

Though SMA type 1 is associated with early mortality, patients with SMA types 2, 3, and 4 can survive into adulthood; it is currently estimated that adults now comprise 33% of all patients with SMA.[3] Between 77% to 93% of patients with SMA type 2 will survive to the age of 20 years, and patients with type 3 and 4 usually have a high degree of functionality and a normal life span (Table).[3,4] The needs of adult patients must address the chronic progressive nature of the disease that leads to other comorbidities and risk factors. 

Table. SMA Types and Associated Maximum Achieved Functions[3]

SMA Type

Age of Onset

Maximum Achieved Function



Respiratory failure at birth


0 to 6 months

Unable to sit


6 to 18 months

Sit independently


18 months to 3 years

Stand independently/ambulate


> 3 years



30 years


For adult patients with SMA, a structured and supportive transition from pediatric to adult care is recommended between the ages of 18 and 21 years.[3] The recent introduction of novel therapeutics for SMA management has encouraged adult patients with SMA to seek care at specialized centers. Though pediatric care centers on developmental mobility milestones, the treatment goals for adults often focus more on maintaining independence and greater autonomy in treatment decision-making.[3]

Adult patients with SMA are acutely aware of the progressive nature of their disease, and as such, are concerned with maintaining and slowing the progression of disease while maintaining strength and function, rather than focusing on gains in typical areas of motor development.[5] The physical therapy needs of adult patients therefore evolve throughout their lifetime, with initial pediatric physical therapy needs focusing on developmental skills milestones to a maintenance model of practice to promoting function and mobility. With disease modifying treatments, there is a paradigm shift towards a rehabilitation and anticipatory model of care to improve function and physical activity. While physical therapy cannot reverse the SMA disease process, targeted exercises may delay or prevent secondary conditions such as impaired mobility, contracture development, spinal deformities, pain, osteopenia, and fractures. Rehabilitation may involve the use of assistive and adaptive equipment to ensure appropriate independence and support as well as assist in exercises.[2,3]

Strengthening exercises vary based on functional level, but can include concentric and eccentric exercise in both anti-gravity and gravity eliminated positions, both with and without resistance, for proximal, distal, core, and axial muscles. Aerobic exercises can include activities that increase heart rate, including but not limited to exercises using an assistive device, swimming, game-based activities (e.g. using a Wii or Kinect system), hippotherapy, upper and/or lower extremity ergometry, walking, yoga, Pilates, and wheelchair sports. Exercises should ideally last 30 minutes or longer and be performed 3 to 5 times a week.[2,6,7] As the patient ages, therapy should focus on specific areas of weakness with a personalized medicine approach to address goals related to maintaining an independent social lifestyle and increasing the patient’s ability to perform activities of daily living. Physical therapy exercises to support balance, walking, and to prevent falls may be more beneficial for adult patients who are ambulatory.[2,6,7] Exercises should be well balanced to not increase fatigue, maintain cardiovascular health, address musculoskeletal health and cardiovascular fitness,[8] and be customized to meet the fitness level of the patient focusing on core FITT (Frequency, Intensity, Type, Time) principles for a personalized exercise prescription.

What assessments can be used to help monitor adult patients with SMA?

SMA management goals in adults focus on function that may be more attributed to gaining strength and endurance. These goals require individualized management plans that focus on specific goals important to the patient, such as decreased fatigue, maintaining independent wheelchair use, balance, and decreasing falls. Extreme heterogeneity in function in the adult population warrants a personalized approach that must be guided by the patient’s goals to improve their quality of life and function, and increase their ability to participate in work and society. This calls for the development of customized exercise programs that fit more easily into the patient’s daily schedule. This may also involve non-traditional SMA outcomes used to measure function, ie, distal finger movements, bulbar function, goal specific scales (Goal Attainment Scale [GAS]) that allow for the customization of outcomes measures meaningful to the individual patient. Due to the different clinical presentations of SMA symptoms across populations and the limitations of measuring individuals who are weaker, additional clinical outcomes are being developed to address the full range of symptom presentations in motor function.[5]

Though commonly used outcomes measures include functional assessments such as the 6-minute walking test (6MWT), the Hammersmith Functional Motor Scale - Expanded (HFMSE), Revised Upper Limb Module (RULM), Motor Function Measure-32 (MFM-32), and timed tests such as the 10-meter walk/run test (10MWT) or Timed Up and Go Test (TUG), other measures examining the patient’s muscle strength, level of fatigue, level of physical activity, and quality of life may also be used for a more complete picture of the patient’s progress.[5,8] For adult patients with SMA, functional gains are not necessarily due to motor development, and may be associated with gains in muscle strength requiring neuromuscular education to relearn to utilize these muscles. Other variables, such as contractures or scoliosis and cardiorespiratory health may also impact the patient’s progress; therefore, specific tests, such as those assessing muscle strength or endurance, can be employed to formulate a more accurate assessment of a patient’s function. Further, from the clinical standpoint, the degree of meaningful change in an outcome measure may vary based on the patient’s age, disease duration, functional status, rate of progression and treatment, thus lending to possible smaller or no change in scales that have been validated in a more pediatric cohort. For example, a change of ≥ 0 points on the MFM32 test can be indicative of stabilization or lack of progression for an adult patient with SMA which is incredibly meaningful, while a change of ≥ 3 points can indicate a higher threshold of improvement in pediatric cases. In adults, small changes may have large functional impact.[5]

Therefore, using a single meaningful change estimate for all patients, including children and adults, is not appropriate, since improvement beyond maturational development is the goal for infants and children, and stabilization is often the goal for adolescents and adults.[5]

What is the possible impact of pharmacotherapy on physical therapy practices for adult patients with SMA?

As the possibilities for disease modifying therapies (DMTs) expand for patients with SMA, physical therapy services will remain an important aspect of disease management.[9] Therefore, it is critical to understand the patient’s current physical therapy implementation in practice for adults with SMA, especially those who are receiving a DMT, to best individualize their care.[9] The initiation of a DMT, such as nusinersen or risdiplam, may increase the frequency and duration of physical therapy interventions, and contribute to helping adult patients with SMA maintain function and manage their disease.[9]

For example, a recent study showed that treatment with nusinersen, combined with physical therapy, resulted in significant improvements in motor skills, compared with patients who only received nusinersen, in a cohort of pediatric and adolescent patients with SMA.[10] For adult patients with SMA, maintenance of function remains of critical importance, and adding a DMT to their physical therapy regimen may encourage them to adopt a more active lifestyle and take more control of their care management.[9] Further, the availability of DMTs (such as nusinersen and risdiplam) may result in a paradigm shift in the way physical therapy is approached for adult patients with SMA. The possibility of treatment may provide hope for patients to have a more proactive lifestyle, requiring the clinicians to understand the natural history of the disease, possible impact of DMTs, and outcomes that may be applicable to measure such changes.[11] This will require clinicians to think outside the box to guide patients towards a physical therapy regiment that fits their lifestyle to maintain their quality of life and help them to remain independent for longer.


Physical therapists play a key role in the care and management of adult patients with SMA, and should approach each patient with an open mind. The patient should always guide the treatment and exercise should be encouraged alongside DMTs. Creating patient-centered exercise regimens and performing individualized objective outcomes assessments relevant to a patient’s goals and functional status is crucial for patients with neuromuscular disorders like SMA. For adults with SMA, it is important not just to focus on improving impairments but these improvements should translate to a functional goal. Physical therapy specializes in improving movement and function through use of neuromuscular education, modalities, assistive devices to promote exercise and physical activity. Adults with SMA are a heterogenous group of patients from those who are not able to sit independently to those who walk without an assistive device. Therefore the personalized team-based approach should not only be specific to the patient’s goals but to consider the DMT working on a preventative, anticipatory mindset to help individuals maintain an active lifestyle, reduce injury and promote autonomy and independence through the lifespan.


  1. Timmerberg JF, et al. Essential competencies for physical therapist managing individuals with spinal muscular atrophy: a Delphi study. PLoS One. 2021;16:e0249279.
  2. Dunaway S, et al. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med. 2016;9:35-44.
  3. Rad N, et al. Management of Spinal Muscular Atrophy in the Adult Population. Muscle Nerve. 2022;65:498-507.
  4. D’Amico A, et al. Spinal Muscular Atrophy. Orphanet J Rare Dis. 2011;6:71.
  5. Duong T, et al. A Patient-centered evaluation of meaningful change on the 32-item Motor Function Measure in spinal muscular atrophy using qualitative and quantitative data. Front Neurol. 2022;12:770423.
  6. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103-115.
  7. Lewelt A, et al. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015;52:559-567.
  8. Bartels B, et al. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev. 2019;3:CD012120.
  9. Trenkle J, et al. Filling the gaps in knowledge translation: physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Neuromuscul Disord. 2021;31:397-408.
  10. Mirea A, et al. Physical therapy and nusinersen impact on spinal muscular atrophy rehabilitative outcome. Front Biosci (Landmark Ed). 2022;27:179.
  11. Muni-Lofra R, et al. Real-world data on access to standards of care for people with spinal muscular atrophy in the UK. Front Neurol. 2022;13:866243.
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