Table 5a.

Recommended Surveillance for Individuals with ASAH1-Related Disorder: Farber Disease

System/ConcernEvaluationFrequency of Assessment / Comments
Constitutional Monitor growth for evidence of failure to thrive.At every visit, consider referral for feeding assessment if poor weight gain.
Monitor general health & immunization status.At each visit
Respiratory Assessment of airway & for evidence of infiltrative pulmonary diseaseRoutinely
Musculoskeletal Assessment of jointsRoutinely
Developmental Monitor achievement of developmental milestones.Child psychologist or developmental pediatrician can assess for cognitive & behavioral issues. 1
1.

Surveillance relevant to the milder forms of Farber disease (i.e., type 1 FD and type 2 FD)

From: ASAH1-Related Disorders

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