Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval	To incl visual acuity & exam for optic atrophy or eye movement abnormalities
Feeding	Multidisciplinary team eval	Attn to nutritional status & feeding
Musculoskeletal	PT & OT	Mobility & self-help skills
Neurologic	Neurologic eval	For dystonia, ataxia, spasticity; incl EEG if question of seizures.
Miscellaneous/ Other	Developmental assessment	To incl motor, general cognitive, & vocational skills
Speech & language pathologist	Speech & communication, augmentative devices
Consultation w/clinical geneticist &/or genetic counselor

From: Fatty Acid Hydroxylase-Associated Neurodegeneration

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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