Table 7. [Recommended Surveillance for Individuals with VPS13A Disease]. - GeneReviews®

System/Concern	Evaluation	Frequency
Movement disorders	Assess response to & evaluate dosage of dopamine-depleting drugs (evolution into predominant parkinsonism/dystonia)	At each visit, at least annually
Mobility, ADL, & need for adaptive devices	Per treating physiatrist, PT, OT	Per treating specialist
Dysphagia/ Feeding	Assess nutritional status & adaptation of diet to assure adequate caloric intake & prevent aspiration. Assess need for gastrostomy tube & obtain informed consent as early as possible.	At each visit, at least annually
Dysarthria	Per treating speech-language therapist	Per treating speech-language therapist
Seizures	Assess response to ASM.	Per treating neurologist & patient response to therapy
EEG	Whenever new-onset seizures are suspected; at least every other year ¹
Behavioral/ Psychiatric/ Cognitive	Clinical impression	At each visit, at least annually
Short cognitive screening test such as MoCA ² &/or per treating specialist	At least every other year &/or per treating specialist
Neuromuscular system	Measure serum CK levels to assess for possible rhabdomyolysis.	At each visit, esp when under neuroleptic treatment
Cardiac	W/known cardiac involvement	Per treating specialist
W/o known cardiac involvement: cardiac exams (EKG, echocardiography, & cardiac biomarkers)	Every 3-5 years
Family support & resources	Eval of social, psychological, & financial situation Assess family need for palliative/respite care, home nursing, & other local resources or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit, at least annually

System/Concern

Evaluation

Frequency

Movement disorders

Assess response to & evaluate dosage of dopamine-depleting drugs (evolution into predominant parkinsonism/dystonia)

At each visit, at least annually

Mobility, ADL, & need for adaptive devices

Per treating physiatrist, PT, OT

Per treating specialist

Dysphagia/
Feeding

Assess nutritional status & adaptation of diet to assure adequate caloric intake & prevent aspiration.
Assess need for gastrostomy tube & obtain informed consent as early as possible.

At each visit, at least annually

Dysarthria

Per treating speech-language therapist

Seizures

Assess response to ASM.

Per treating neurologist & patient response to therapy

EEG

Whenever new-onset seizures are suspected; at least every other year ¹

Behavioral/
Psychiatric/
Cognitive

Clinical impression

At each visit, at least annually

Short cognitive screening test such as MoCA ² &/or per treating specialist

At least every other year &/or per treating specialist

Neuromuscular system

Measure serum CK levels to assess for possible rhabdomyolysis.

At each visit, esp when under neuroleptic treatment

Cardiac

W/known cardiac involvement

Per treating specialist

W/o known cardiac involvement: cardiac exams (EKG, echocardiography, & cardiac biomarkers)

Every 3-5 years

Family support
& resources

Eval of social, psychological, & financial situation
Assess family need for palliative/respite care, home nursing, & other local resources or follow-up genetic counseling if new questions arise (e.g., family planning).

At each visit, at least annually

From: VPS13A Disease

GeneReviews^® [Internet].

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

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