Table 4.

Mucopolysaccharidosis Type VII: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
General Consultation w/metabolic physicianReferral to center w/experience in mgmt of lysosomal disorders
Skeletal manifestations
  • Assessment of growth incl upper to lower segment ratios
  • Skeletal survey incl cervical flexion-extension radiographs
  • Consultation w/orthopedist
Further imaging to be ordered after eval by orthopedist
Neurologic
  • Assessment for hyperreflexia & clonus
  • MRI of whole spine to assess for spinal stenosis
Development Developmental assessment
ENT/Respiratory Consultation w/ENT specialist & pulmonologistImaging & other assessments to be ordered after eval by specialists
Hearing Audiology eval
Vision Ophthalmology exam
Organomegaly/
Gastrointestinal
  • MRI or abdominal ultrasound to assess liver & spleen volume/dimensions
  • Assessment for hernias
Ultrasound can be done if sedation for MRI is a concern but does not provide volumetric data.
Cardiac
  • EKG
  • Echocardiogram
Genetic counseling By genetics professionals 1Discuss nature, MOI, & implications of MPS VII to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

MOI = mode of inheritance; MPS VII = mucopolysaccharidosis type VII

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Mucopolysaccharidosis Type VII

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