Table 4.

Recommended Surveillance for Individuals with Mucolipidosis IIIγ

System/ConcernEvaluationFrequency
Constitutional Height, weight, head circumferenceYearly
Pain Assessment of pain level by pain specialistYearly
Musculoskeletal Assessment of range of motion, stiffness & contractures, carpal tunnel syndrome, tarsal tunnel syndrome, ADLYearly
Mobility By PT, physiatristYearly
Fine motor skills By OTYearly
Metabolic
bone disease
DXA scan
  • Children: 5-yr intervals after baseline study
  • Adults w/normal studies: 3-yr intervals
  • Adolescents & adults w/↓ densitometry: 2-yr intervals
Respiratory Lung function studies5-yr intervals
Cardiac Cardiac eval incl echocardiographyYearly
Ophthalmologic Monitor visual acuity & corneal opacities.Yearly
Development/
School issues
General evalYearly
Educational
resources
General evalYearly
Psychological
issues
General evalYearly
Community
resources
General evalYearly

ADL = activities of daily living; DXA = dual-energy x-ray absorptiometry; OT = occupational therapist; PT = physical therapist

From: Mucolipidosis III Gamma

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