Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with VPS13D Movement Disorder

System/ConcernEvaluationComment
Musculoskeletal Physiatry & PT evalTo ensure proper bracing & walking aids
Neurologic Neurologic evalEEG, EMG/NCS if clinically indicated
Eyes Ophthalmologic evalEval for macrosaccadic intrusions
Endocrine Fertility eval in males of reproductive ageEval for male infertility, oligospermia
Miscellaneous/
Other
Developmental assessmentIncl eval of motor, speech/language, general cognitive, & vocational skills
Consultation w/clinical geneticist &/or genetic counselor

EEG = electroencephalogram; EMG = electromyogram; NCS = nerve conduction study; PT = physical therapy

From: VPS13D Movement Disorder

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