GET THE LATEST from MorCAP—the largest Morquio A natural history study. For the patient site, visit morquiosity.com

MANAGEMENT

Published in 2014, the “International Guidelines for the Management and Treatment of Morquio A Syndrome” (Guidelines) establish the standard of care for Morquio A. The Guidelines were developed over 2 expert meetings of an international panel of specialists with extensive experience in managing Morquio A to aid clinicians as they manage and treat this complex multisystemic disease.

Morquio A requires lifelong, multidisciplinary, disease-specific care by a dedicated team of specialists. The Guidelines recommend that a geneticist/medical home coordinate that care to identify the early signs of organ damage and ensure optimal patient outcomes. Because of the progressive nature of Morquio A, the Guidelines urge early initiation of treatment with enzyme replacement therapy (ERT).

By following the recommendations of the Guidelines, physicians can optimize their management of Morquio A by creating a personalized management plan for each of their patients including a thorough assessment schedule for each body system affected by the disease.

Assessments recommended by the Guidelines

BMN-N15-004_MorqAnswers-Table_Rd1_v1

 

Recommended Morquio A assessment schedule by specialty

 
Specialty Recommended assessment timing
ico-p2-t1-r1-c1 Orthopedic specialist At diagnosis; as needed4,30
ico-p2-t1-r9-c1 Geneticist At diagnosis; annually1
ico-p2-t1-r2-c1 Physiotherapist At diagnosis; annually22
ico-p2-t1-r3-c1 Neurologist At diagnosis; annually15
ico-p2-t1-r4-c1 Rheumatologist At diagnosis; annually31
ico-p2-t1-r5-c1 ENT At diagnosis; annually22
ico-p2-t1-r6-c1 Pulmonologist At diagnosis; annually; spiral CT
recommended before major operations annually22
ico-p2-t1-r7-c1 Cardiologist At diagnosis; every 1-3 years;
before surgery annually22
ico-p2-t1-r7-c1 Ophthalmology At diagnosis; annually22
ico-p2-t1-r8-c1 Dentist Regular checkups22

Chronic care

While the management of skeletal manifestation and neurologic involvement from a surgical perspective is critical to Morquio A patient care, the management of other nonskeletal multisystemic effects also plays a key role in achieving optimal long-term outcomes.22

 

Chronic intervention

Visual system
Refractive correction, low-vision aids such as magnification devices or task lighting as needed, filtering glasses and caps if photosensitive, corneal transplantation, cataract surgery, corneal clouding has reported improved following bone marrow transplantation1,18,19,22,32,33
Auditory system
Ventilation tubes, hearing aids4,22

Oral health
Fluoride supplementation, fissure sealing of dentition22
Fluoride Supplementation
Cardiovascular system
management-valve-replacementValve replacement, antibiotic prophylaxis against infective endocarditis prior to surgery1,4,6,22,34,35
Respiratory system
Regular vaccinations to protect against respiratory infections; bronchodilators; tonsillectomy and/or adenoidectomy; treatment of sleep disordered breathing (SDB) including continuous positive airways pressure (CPAP) and/or noninvasive ventilator support systems (BiPAP); supplemental oxygen, tracheostomy4,13,22



Operative care

Surgical care is critical for the vast majority of Morquio A patients but is complicated by the nature of disease.1,36 Reduced respiratory capacity, impaired cardiovascular function, skeletal morphology, cervical spinal instability, and complex airway structure complicate surgical and anesthetic care and necessitate disease-specific techniques and presurgical planning.36,37 Presurgical planning should include the anesthesiologist to address specialized techniques for intubation and extubation in these patients.36,37


Orthopedic intervention

Morquio A is characterized by a spectrum of skeletal, spinal, and rheumatologic involvement that frequently requires corrective surgical intervention.9 Common conditions that may require orthopedic surgical intervention in patients with Morquio A include the following:

Hip subluxation

Predominantly proximal femoral VDRO and a modified shelf acetabuloplasty using inner table iliac bone graft36

2.2.1-Orthopedic-Intervention-HipSubluxation

Morquio A patient with hip subluxation:
(A) At 12.5 years underwent Pemberton osteotomy + VDRO. (B) At 16 years, hip subluxation recurred. (C) At 18 years, hips well located 2 years post-shelf acetabuloplasty

Genu valgum

Distal femoral osteotomy (DFO), proximal tibial osteotomy (PTO), medial hemiepiphysiodesis of the distal femur (DFH) and/or proximal tibia (PTH)38

genu-valgum
At 4 years old
At 7 years old
ankle-valgus

Ankle valgus

Supramalleolar distal tibial osteotomy (DTO) and/or distal tibial medial hemiepiphysiodesis (DTH)39

Ankle valgus

Atlantoaxial subluxation

Posterior cervical fusion; occipitocervical fixation and posterior fusion for C1-C2 subluxation and instability; cervical laminectomy for decompression of the axial cervical spine37

2.2.1-Orthopedic-Intervention-AtlantoaxialSubluxation
Dens hypoplasia
2.2.1-Orthopedic-Intervention-SubaxialSubluxation
Cervical instability, stenosis, and cord compression
Images courtesy of Kenneth Martin, MD (first two images), Gulrish Solanki, MD (third image)
 

Cervical spine

Fusion for C1-2 subluxation. Decompression plus fusion if subluxation is irreducible and cord compression is present.37

Thoracolumbar kyphosis

Decompression, supported with instrumentation and fusion39

thoracolumbar-kyphosis
Spine surgery for cervical spine and thoracolumbar kyphosis

Other Surgical Intervention

The multisystemic, nonskeletal manifestations of Morquio A may require surgical intervention to ensure long-term patient health. These procedures may include the following:

Previous Image
Next Image

info heading

info content


Airway and Anesthetic Management

Because of obstruction in both the upper and lower airways, as well as cervical instability and chest wall deformity, surgical procedures in Morquio A patients entail significant risks, including death.36,40-44 Appropriate airway and anesthetic management is critical to successful surgical intervention and outcomes.

Any elective surgery requires36,40-44

  • Thorough perioperative pulmonary, cardiac, and ENT evaluations
  • Radiological imaging of cervical spine
  • Surgical consult with anesthesiologist
  • Skilled airway personnel
  • Spectrum of airway management equipment
videolaryngoscopy
Videolaryngoscopy is one method for intubating Morquio A patients

Images courtesy of Mary Theroux, MD