Table 10.

Recommended Evaluations Following Initial Diagnosis in Individuals with MPS IVB

System/ConcernEvaluationComment
Eye findings Ophthalmologic exam
  • Evaluate for corneal clouding.
  • Assess visual acuity.
Neurologic Neurology eval
  • Baseline exam
  • Evaluate for clinical signs of spinal cord compression.
Skeletal Skeletal radiographsBaseline radiographs:
  • Cervical spine (AP, neutral lateral, flexion-extension views)
  • Entire spine (AP, lateral)
  • Pelvis (AP, frog leg lateral)
  • Lower extremities (AP standing)
  • Lower extremity alignment from hip to ankle if signs of lower extremity misalignment
MRI
  • Baseline MRI of entire spine w/focus on occipitocervical, cervicothoracic, thoracolumbar regions to assess for spinal cord compression
  • Flexion-extension MRI of cervical spine
Musculoskeletal
system 		Physical medicine & rehab / PT & OT eval
  • To assess mobility, autonomy, joint range of motion, ADL, upper extremity strength
  • Baseline endurance w/6-min walk test
Respiratory
issues 		Pulmonology eval
  • Baseline pulmonary function testing, polysomnography
  • Evaluate for airway obstruction & assess inspiratory/expiratory lung volume changes.
Cardiac
involvement 		Eval by cardiologist (incl EKG & echocardiogram)Evaluate for cardiac valve pathology.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of a GLB1-related disorder in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: GLB1-Related Disorders

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