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