Table 5.

Mucopolysaccharidosis Type VII: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Nonimmune hydrops fetalis Neonatal intensive care
Skeletal manifestations
  • Surgical fusion for atlantoaxial instability
  • Surgical treatment of scoliosis as needed
  • Spine monitoring during surgeries
Other surgeries such as hip &/or knee surgery per orthopedist
Anti-inflammatory medications &/or analgesics as needed for pain assoc w/joint stiffness
Consultation w/physical medicine & rehab / PT & OT for issues w/mobility & ADLDurable medical equipment (e.g., wheelchair, walker)
Neurologic
  • Surgical decompression for spinal stenosis
  • Wrist splints & surgery as needed for carpal tunnel syndrome
Developmental delay
  • Early intervention services
  • Speech therapy
  • School support (IEP)
Airway obstruction /
Sleep apnea
  • Tonsillectomy & adenoidectomy
  • Positive pressure ventilation
Tracheal reconstructive or other airway surgery, tracheostomy
Restrictive lung disease Pulmonary toilet
Hearing loss
  • Tympanostomy tubes
  • Hearing aids
Corneal clouding Treatment per ophthalmologist
Dysphagia/
Aspiration
  • Thickeners as needed
  • Gastrostomy tube placement
Hernias Surgical repair
Cardiac disease Treatment per cardiologist
End-of-life care Hospice

ADL = activities of daily living; IEP = individualized education plan; OT = occupational therapy; PT = physical therapy

From: Mucopolysaccharidosis Type VII

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