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Contracture management for spinal muscular atrophy

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Contracture management for spinal muscular atrophy

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1. Contents

Contracture management for spinal muscular atrophy …………………………………………………….. 1

  1. Contents ………………………………………………………………………………………………………….. 1

  2. Summary …………………………………………………………………………………………………………. 2

  3. Spinal Muscular Atrophy ……………………………………………………………………………………. 2

  4. Allied health symptom management ……………………………………………………………………. 3

4.1  SMA Guidelines ....................................................................................................... 3
4.2    Limitations of current guidelines ............................................................................... 5

4.3   Contracture management .................................................................................       6

5. References ………………………………………………………………………………………………….. 6

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2. Summary

Contractures are common for people with Spinal Muscular Atrophy (SMA). There is minimal research evidence related to the management of contractures for people with SMA. Recent developments in gene therapy are changing the typical disease progression of SMA for those treated, which means different symptoms management options are being now being considered or re-evaluated.

Contracture management strategies that are supported by consensus-based recommendations include:

  • passive or active stretching supported by a physiotherapist or occupational therapist
  • assistive technology such as orthoses, braces and standing frames
  • serial casting.

3. Spinal Muscular Atrophy

SMA is a progressive neuromuscular condition that impacts motor function and can lead to hypotonia, muscle weakness, and difficulties with breathing, speaking and eating (Shin, 2024; Aponte Ribero et al, 2023; SMA, n.d.). SMA is caused by a genetic mutation in chromosome 5 that interferes with the production of a protein necessary for the functioning of motor neurons (MDA, n.d.a). It occurs in 1 in 10,000 births in Australia (Aponte Ribero et al, 2023; SMA, n.d.). Diagnosis is based on medical and family history, physical and neurological examinations, a blood test and genetic testing (NINDS, 2024; MDA, n.d.d).

SMA is categorised into five types based on age of onset and childhood motor skills:

  • Type 0 – also called prenatal onset or arthrogryposis multiplex congenital SMA; symptoms are evident at birth; usually results in death of the infant
  • Type 1 – also called infantile SMA or Werdnig-Hoffman disease; symptoms usually develop at 3 – 9 months; child generally unable to sit or walk unsupported and may experience skeletal weakness, hypotonia and respiratory impairments; life expectancy varies based on treatment
  • Type 2 – also called intermediate SMA or chronic childhood SMA; symptoms usually appear around 7 – 19 months of age; child may be able to sit but unlikely to pull themselves up to stand or walk; life expectancy varies based on treatment
  • Type 3 – also called juvenile SMA or Kugelberg-Welander disease; symptoms usually appear by 2 – 7 years of age; child may learn to walk but ambulation may decrease if untreated; life expectancy is unaffected

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  • Type 4 – also called adult onset SMA; symptoms are less severe than other types and can appear from puberty to late adulthood; life expectancy is unaffected (Aponte Ribero et al, 2023; SMA, n.d.; MDA, n.d.b).

With the widespread use of new disease modifying treatments, the typical symptom progression associated with these types is changing (Shin, 2024). As stated in Schorling et al (2020):

Since the introduction of new drug treatments for SMA, we have observed disease trajectories that differ significantly from the known natural history of the disease. These new phenotypes now also cross the traditional subtypes of SMA. For example, patients with onset before six months of age (typical for SMA type 1) might achieve independent sitting (SMA type 2 by definition) if treatment is initiated early. It is now more appropriate to rely on a combination of age of onset, number of SMN2 copies, and age at start of drug treatment rather than the traditional subtypes to define a clinical phenotype of SMA (Schorling et al, 2020, p.7).

Three medications are now available in Australia which can limit the progression of symptoms:

  • Spinraza for types 1, 2 and 3 under the age of 19
  • Risdiplam for adults
  • Zolgensma for children under 2 (SMA, n.d.; MDA, n.d.c).

If left untreated, it is very likely that symptoms of SMA will progress across all types. There is some disagreement about whether these medications may affect a cure for SMA (Shin, 2024; Schorling et al, 2020). In some cases, treated patients may be asymptomatic, though for most cases people will still experience symptoms, but with reduced severity, slower progression and longer lifespan (Shin, 2024; Aponte Ribero et al, 2023; Schorling et al, 2020; SMA, n.d.; MDA, n.d.c).

4. Allied health symptom management

People with SMA may benefit from ongoing symptom management with speech therapy, physiotherapy or occupational therapy, mobility aids, and attention to diet (NINDS, 2024d). According to the National Guideline for Newborn Screening in Spinal Muscular Atrophy in Australia and Aotearoa New Zealand “all children diagnosed with SMA should be referred for multidisciplinary allied therapy interventions aligning with international standards of care” (National Committee, 2024, p.183).

4.1 SMA Guidelines

The international standards of care referred to in the National Guideline for Newborn Screening in Spinal Muscular Atrophy are the 2018 Diagnosis and management of spinal

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muscular atrophy, Parts 1 and 2 (SMA guidelines) (National Committee, 2024; Finkel et al, 2018; Mercuri et al, 2018).

The SMA Guidelines recommend care from a multidisciplinary team incorporating expertise in neuromuscular and musculoskeletal rehabilitation, nutrition, gastrointestinal support, pulmonary treatment, medication and psychology. The care team should be coordinated by a qualified professional, usually a neurologist (Mercuri et al, 2018, p.106).

The SMA Guidelines recommend management strategies for different levels of functional capacity, classified as non-sitters, sitters and walkers.

Non-sitters

Primary goals: optimise function; minimise impairment; optimise tolerance to various positions.

  • Stretching using orthoses and splints, active-assistive and passive manual techniques, supported supine/standing frames and serial casting.
  • Seating systems and postural supports for sitting and lying.
  • Recline/tilt options to be included in strollers and wheelchairs.
  • Assistive technology to provide an opportunity for mobility, exercise and play.
  • Chest physiotherapy to promote airway clearance and management.
  • Conduct feeding and swallowing assessment.
  • Dietician should advise about nutritional requirements with focus on bone health and hydration.

Sitters

Primary goals: prevent contractures and scoliosis; maintain, restore or promote function and mobility.

  • Stretching using orthoses and splints, active-assistive and passive manual techniques, supported supine/standing frames and serial casting.
  • Stretching should be supervised or performed by a physiotherapist or occupational therapist. Family and carers may be instructed in stretching techniques.
  • Static, dynamic and functional orthoses for positioning, supported standing and walking.
  • Power wheelchairs with custom postural support and light-weight manual or power assist chairs for people with higher levels of upper limb strength and mobility.

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  • Regular exercise including aquatic therapy, aerobic exercise and general conditioning exercise with and without resistance.
  • Chest physiotherapy to promote airway clearance and management.
  • Conduct feeding and swallowing assessment.
  • Dietician should advise about nutritional requirements with focus on bone health and hydration.

Walkers

Primary goals: maintain, restore or promote function, mobility, and adequate joint range; improve balance and endurance.

  • Regular exercise including aquatic therapy, aerobic exercise and general conditioning exercise with and without resistance, dynamic and static balance exercises.
  • Focus on active-assistive and passive manual stretching techniques. Lower limb orthoses may also be used.
  • Light-weight manual or power assist wheelchairs or electric scooters may be used when endurance is limited.
  • Dietician should advise about nutritional requirements with focus on bone health and caloric intake.

4.2 Limitations of current guidelines

The 2018 guidelines were completed only two years after the first disease-modifying treatment became available. This means the guidelines have not taken into account the modified disease progression seen after the widespread use and effectiveness of treatment (Shin, 2024; Mercuri et al, 2018). As of 2024, Shin notes that effective treatments have still been available for less than 10 years and so there is limited evidence and no clinical consensus on the most effective management protocols for people with SMA who have received effective treatment. Shin suggests the following may be considered:

  • for hip instability, modify protocols for cerebral palsy to suit presentation of individual with SMA (e.g. postural management, neuromotor treatment, spasticity management and preventive or reconstructive soft tissue or bone surgery)
  • for bone health, bone density monitoring, administering biophosphates, weight bearing activities such as standing or gait training
  • aerobic exercise (such as arm cycle ergometry) and progressive resistance training may improve fitness and prevent muscle deterioration

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  • prescription of orthoses for postural support or gait training
  • regular monitoring of swallowing ability, nutritive and non-nutritive sucking trials should begin immediately after birth
  • ventilation and the use of cough augmentation, mucus mobilisation and postural drainage techniques should be considered.

4.3 Contracture management

Contractures are common for people with SMA and may occur in almost all cases. Contractures can lead to pain and inhibit mobility and daily functioning (Brown et al, 2025; Lansink et al, 2024; Shin, 2024; Mercuri et al, 2018).

There is limited evidence for the efficacy of surgical management of contractures, though it is recommended for consideration in the SMA Guidelines if the contractures cause pain or impair function (Shin, 2024; Mercuri et al, 2018).

Non-surgical management of joint contractures should vary based on the capacity of the individual, but may include passive or active stretching and the use of orthoses and splints. Use of a stranding frame may assist with preventing lower limb joint contractures. Range-of-motion exercises should be performed 3 – 5 times per week for non-sitters and walkers, and 5 – 7 times per week for sitters. Orthoses should be worn for periods of between 60 minutes and overnight. Bracing should occur at least 5 times per week. For sitters supported standing should occur 5 – 7 times per week for up to 60 minutes per session (Shin, 2024; Mercuri et al, 2018; 4.1 SMA Guidelines).

A recent interview-based study of 14 adolescents with SMA (types 2 or 3) (Lansink et al, 2024), found that participants viewed contracture management delivered by a physiotherapist favourably as an additional form of comfort. However, participants reported viewing the use of orthoses and standing frames as uncomfortable and unnecessary in contracture management.

Serial casting has also been recommended as a treatment for contractures in SMA. This recommendation is based on the evidence for its efficacy in other neuromuscular conditions:

There is no direct evidence to support serial casting in SMA, however casting has been used to treat joint contractures present in other neuromuscular diagnoses such as Duchenne’s muscular dystrophy and Charcot Marie Tooth Disease and a general evidence-based care guideline for management of serial casting for those with cerebral palsy, traumatic brain injury, Duchenne’s muscular dystrophy , and idiopathic toe walking and spasticity has been published (Brown et al, 2025, p.7).

5. References

Aponte Ribero, V., Martí, Y., Batson, S., Mitchell, S., Gorni, K., Gusset, N., Oskoui, M., Servais, L., & Sutherland, C. S. (2023). Systematic Literature Review of the Natural

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History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures. Neurology, 101(21), e2103–e2113. https://doi.org/10.1212/WNL.0000000000207878

Brown, L., Hoffman, K., Corbo-Galli, C., Kelley, C., Carry, T., Civitello, M., Coratti, G., DeSanctis, R., Duong, T., Driscoll, B., Flickinger, J., Glanzman, A. M., Jones, J., Maczek, E., Moat, D., Montes, J., Muni-Lofra, R., Nelson, L., Pasternak, A., Valle, M., … Krosschell, K. J. (2025). Serial casting for contractures in SMA: consensus derived guidelines for treatment. Frontiers in neurology, 16, 1502495. https://doi.org/10.3389/fneur.2025.1502495

Finkel, R. S., Mercuri, E., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E. S., Vitale, M., Snyder, B., Quijano-Roy, S., Bertini, E., Davis, R. H., … SMA Care group (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular disorders : NMD, 28(3), 197–207. https://doi.org/10.1016/j.nmd.2017.11.004

Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E. S., Vitale, M., Snyder, B., Quijano-Roy, S., Bertini, E., Davis, R. H., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S., … SMA Care Group (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular disorders : NMD, 28(2), 103–115. https://doi.org/10.1016/j.nmd.2017.11.005

Muscular Dystrophy Association. (n.d.a). Spinal Muscular Atrophy. https://www.mda.org/disease/spinal-muscular-atrophy

Muscular Dystrophy Association. (n.d.b). Types of Spinal Muscular Atrophy. https://www.mda.org/disease/spinal-muscular-atrophy/types

Muscular Dystrophy Association. (n.d.c). Medical Management - Spinal Muscular Atrophy. https://www.mda.org/disease/spinal-muscular-atrophy/medical-management

Muscular Dystrophy Association. (n.d.d). Diagnosis. https://www.mda.org/disease/spinal-muscular-atrophy/diagnosis

National Committee for Newborn Screening in Spinal Muscular Atrophy (Australia and New Zealand). (2024). National Guideline for Newborn Screening in Spinal Muscular Atrophy in Australia and Aotearoa New Zealand. https://www.unsw.edu.au/content/dam/pdfs/medicine-health/clinical-medicine/research-reports/2024-08-nbs-for-sma/2024-11-Technical-report-NBS-for-SMA-06_11_2024.pdf

National Institute of Neurological Disorders and Stroke. (2024). Spinal Muscular Atrophy. https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy

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Oude Lansink, I. L. B., Gorter, J. W., van der Pol, W. L., Bartels, B., & Beelen, A. (2024). Impact of contractures on daily functioning in adolescents with spinal muscular atrophy: a qualitative study. Disability and rehabilitation, 46(12), 2593–2599. https://doi.org/10.1080/09638288.2023.2227953

Shin H. I. (2024). Rehabilitation Strategies for Patients With Spinal Muscular Atrophy in the Era of Disease-Modifying Therapy. Annals of rehabilitation medicine, 48(4), 229–238. https://doi.org/10.5535/arm.240046

Schorling, D. C., Pechmann, A., & Kirschner, J. (2020). Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. Journal of neuromuscular diseases, 7(1), 1–13. https://doi.org/10.3233/JND-190424

Spinal Muscular Atrophy Australia Inc. (n.d.). What is SMA? https://smaaustralia.org.au/what-is-sma/

Ulusaloglu, A. C., Asma, A., Shrader, M. W., Scavina, M. T., Mackenzie, W. G., Erb, A., & Howard, J. J. (2024). Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments. Journal of pediatric orthopedics, 44(3), e226–e231. https://doi.org/10.1097/BPO.0000000000002595

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