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  1. Musculoskeletal Support and Interventions
  2. Nutritional Support and Interventions
  3. Respiratory Support and Interventions

Musculoskeletal support and interventions

Musculoskeletal issues in spinal muscular atrophy (SMA),
 such as scoliosis, may require bracing or surgery

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Spinal curvature is a common concern, as it develops in more than 50% of individuals with spinal muscular atrophy, most commonly in those who are nonambulatory. This may be addressed by surgical correction or positional support (eg, bracing). The decision to perform surgical correction of complications such as scoliosis is based on the spine curvature, pulmonary function, and bone maturity.1,2

POTENTIAL BENEFITS

CONSIDERATIONS

SURGERY

POTENTIAL BENEFITS

  • May improve sitting posture, balance, endurance, and cosmesis2
  • May slow respiratory decline2,3
  • May increase overall comfort, quality of life, and independence1

CONSIDERATIONS

  • May impact ability to perform lumbar puncture
  • Optimal timing of procedure is controversial3
  • Individuals with spinal muscular atrophy may be at higher risk of surgical complications than the general population3

BRACING

POTENTIAL BENEFITS

  • May improve sitting balance, endurance, and overall physical appearance1
  • More conservative approach than surgery that allows for further growth1

CONSIDERATIONS

  • Likely does not prevent or delay development of scoliosis3
  • May cause some discomfort1
  • Lung function may be adversely affected by rigid bracing in children ≤8 years of age4
  • Expiratory lung volume may be lower with bracing4

Limb contractures are common in neuromuscular diseases such as spinal muscular atrophy5

Contractures may occur in patients who have lost, or never achieved, the ability to ambulate. They contribute to reduced functional range of motion, loss of function for activities of daily living, and increased pain. One study found reductions in range of motion by >20° among 22% to 50% of patients with later-onset (consistent with Type II) spinal muscular atrophy. Hip, knee, and wrist contractures were most common.5  Orthopedic treatment often consists of range-of-motion exercises in order to prevent fixed joint contractures.6

Mobility-assistive technology

Power-assistive mobility devices may be considered for individuals with severe or progressive neuromuscular disease who suffer from fatigue and lack of endurance, allowing them to conserve energy and focus more on activities of daily living. Children with spinal muscular atrophy who are as young as 20 months of age have demonstrated safe, independent use of powered wheelchairs.7,8

POTENTIAL BENEFITS

CONSIDERATIONS

POWERED WHEELCHAIR

POTENTIAL BENEFITS

  • Powered mobility may allow children to independently explore and interact with their environment, which may encourage development of communication, cognitive and social skills7,8
  • Seat-to-floor option may allow children to participate in floor activities7

CONSIDERATIONS

  • Young children may need constant supervision8
  • Seating, hand controls, etc, may need to be configured to match patient’s physical needs8

STANDING WHEELCHAIR9

POTENTIAL BENEFITS

  • May relieve pressure on pelvic bones while sitting
  • May improve lung capacity
  • May reduce occurrence of gastrointestinal complications
  • May increase bladder emptying
  • May prevent reductions in bone mineral density (BMD)
  • May improve ability to perform activities of daily living

CONSIDERATIONS

  • Potential to overstretch contractures
  • Skeletal deformities may impede patient comfort
  • Lack of standing tolerance may limit use
  • Potential for fracture in severe BMD loss
  • Potential for causing postural hypotension

CONTROLLERS

POTENTIAL BENEFITS

  • Sensitivity can be programmed7
  • Force-sensing joysticks7
  • Sip-and-puff may be used by patients with breath control7

CONSIDERATIONS

  • Controllers may need to be periodically re-designed to compensate for progressive weakness10

References

1. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. http://columbiasma.org/pt-ot.html. Updated March 14, 2013. Accessed April 18, 2016. 2. Wang CH, Finkel RS, Bertini ES, et al; and Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. 3. Mullender M, Blom N, De Kleuver M, et al. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis. 2008;3:14. 4. Tangsrud SE, Carlsen KC, Lund-Petersen I, Carlsen KH. Lung function measurements in young children with spinal muscular atrophy; a cross sectional survey on the effect of position and bracing. Arch Dis Child. 2001;84(6):521-524. 5. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):675-687. 6. Tsirikos AI, Baker ADL. Spinal muscular atrophy: classification, aetiology, and treatment of spinal deformity in children and adolescents. Curr Orthoped. 2006;20:430-445. 7. Lin W, Pierce A, Skalsky AJ, McDonald CM. Mobility-assistive technology in progressive neuromuscular disease. Phys Med Rehabil Clin N Am. 2012;23(4):885-894. 8. Jones MA, McEwen IR, Hansen L. Use of power mobility for a young child with spinal muscular atrophy. Phys Ther. 2003;83(3):253-262. 9. Arva J, Paleg G, Lange M, et al. RESNA position on the application of wheelchair standing devices. Assist Technol. 2009;21(3):161-168. 10. Hilliard K. Special Effect’s controllers enable every gamer to enjoy video games. http://www.gameinformer.com/b/features/archive/2014/06/25/creating-controllers-for-all-disabilities-special-effect-enables-every-gamer-to-enjoy-video-games.aspx. Game Informer website. Published June 25, 2014. Accessed August 1, 2016. 

Muscular Atrophy

The clinical spectrum of SMA is highly variable and often requires comprehensive medical care involving multiple disciplines.2