Lower Extremity Contractures and Hip Dysplasia in SMA · Lower Extremity Contractures and Hip Dysplasia in SMA . David A. Spiegel, M.D. Children’s Hospital of Philadelphia. Associate

Lower Extremity Contractures and Hip

Dysplasia in SMA

David A. Spiegel, M.D. Children’s Hospital of Philadelphia

Associate Professor of Orthopaedic Surgery University of Pennsylvania School of Medicine

Context

• Flaccid, progressive, proximal, LE • Phenotype varies • Promising strategies, alter the natural history – Gene therapy (AAV9) – SMN2 splicing modulation

• Challenging convention

Haaker J, Fujak A. Applic Clin Gen 2013;6:113-120.

• Positioning, comfort, ease of care • Limited upright mobility (stander)

Maximize ambulation

World Health Organization. International classification of functioning, disability, and health. Geneva, 2001

(http://www.who.int/classifications/icf/en/)

Decision Making

“The Boy with a Clubfoot”

Jusepe de Ribera (1642)

“The Clubfoot” Jusepe de Ribera (1623)

• What we see versus what pt/family sees

• Establish realistic, functional goals

• Proactive versus reactive

Contractures

• Why? Denervation/weakness, immobilization/positioning • What? Contractile Tissue ( connective tissue) Connective tissue (lose extensibility) Joint (fibrofatty connective tissue) Farmer SE, James M. Disability and Rehabilitation 2001;23:549.

• 143 pt, Type II, 5 yrs fu

• Hip: 45° FC, rotation, add, abd

• Knee: 37° FC • Ankle: Equinus (13° in 31%)

Fujak A, et al. Ortopedia, Traumatologia, Rehabilitacja; 1 3:27–36.

• 44 pt • Type II

– Flexion contracture • 48% hip, 89% knee, 52% ankle

• Type III – Flexion contracture

• 18% hip (45°) • 29% knee (27°) • 53% ankle (15°) Wang HY, et al. Arch Phys Med Rehab,

2004;85:1689–1693.

Bono R, et al. Ital J Neurol Sci 1995;16:223.

Strategy

• Multidisciplinary • Multimodality • Relentless/sustainable

• Positioning • Physical therapy • Serial casting/wedging • Orthoses Static, Dynamic When and how long

• Practicality and sustainability • Shared responsibility

Nonoperative: Proactive vs. Reactive

Reactive:

• Operative – Soft tissue

• Muscle lengthening or release – Osteotomy

• Early mobilization • Risk of losing function • Deterioration/recurrence over time

Hip Flexion Contracture

Flexion + Abduction

• Stretch casting • Soft tissue lemgthening/release – Hamstrings – Posterior capsule

• “Guided growth” • Extension osteotomy

Knee Flexion Contracture

Guided Growth???

• Indications evolving

• 1°/month

Distal Femoral Extension Osteotomy

Hip Dysplasia

• Subluxation and dislocation very common, II > III

• Pain/functional consequences rare • Pathologic anatomy? • Reactive rather than proactive

Haaker J, Fujak A. Applic Clin Gen 2013;6:113-120. Sporer SM, Smith BG. J Pediatr Ortho 23:10-14. Thompson CE, Larsen LJ. J Pediatr Ortho 1990;10:638-641. Evans Zenios M, et al. JBJS [Br] 2005;87:1541-1544

Hip: What we think we know

Pathologic Anatomy?

• Osseous Proximal femur Acetabulum

• Soft tissues?

Relationship between hips and spine

Relationship between hips and spine

• Age • Unilateral versus Bilateral?

• Subluxation or Dislocation

• Ambulatory? • Symptoms?

Treatment

What is the pain generator?

• Soft tissue contracture • Bony (impingement or arthritis) • Local pressure from asymmetric seating position

Subtrochanteric Resection

Valgus/Pelvic Support Osteotomy