Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Assess for seizures.	Seizures are uncommon & usually brief & self-limited.
Assess for truncal hypotonia &/or spastic paraplegia.	Lower-limb spasticity w/weakness, hyperreflexia, & abnormal gait
Assess for myoclonus, tremor, bradykinesia, dystonia, dysarthria.	Findings that are occasionally seen
Musculoskeletal	Orthopedic, physical medicine & rehab, & PT/OT eval	Assess tone, spasticity, range of motion, gait, & need for assistive devices.
Development	Developmental assessment	Incl assessment of age-appropriate motor, speech/language, cognitive, vocational skills
Speech	Assessment by a speech pathologist	For those w/dysarthria
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor

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