Table 7. [Recommended Surveillance for Individuals with DNAJC6 Parkinson Disease]. - GeneReviews®

System/Concern	Evaluation	Frequency
Movement disorder	PT, OT, speech & language therapy evals	Every 6 mos or more frequently as needed
Seizures	Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).	At each visit
EEG	At 1st manifestation of symptoms, then as frequently as needed
Monitor those w/seizures as clinically indicated.	Incl assessment & adjustment of anti-seizure medication as needed
Psychiatric disorders	Psychiatric assessment	At 1st manifestation of symptoms, then as frequently as needed
Sleep disorder	Sleep study/polysomnography
Nutrition	Growth assessment	At each visit in children
Assessment of nutritional status to evaluate dietary requirements	At each visit
Dysphagia	Swallowing assessment to evaluate risk of aspiration	At 1st manifestation of symptoms, then as frequently as needed
Gastrointestinal manifestations	Gastroenterology eval; gastroscopy if needed
Orthopedic manifestations	Hip & spine radiographs	Every 6-12 mos in persons: Who are nonambulatory at age >2 yrs W/signs/symptoms concerning for spinal deformity
Vision deficits	Ophthalmology eval	At 1st manifestation of symptoms, then as frequently as needed

System/Concern

Evaluation

Frequency

Movement
disorder

PT, OT, speech & language therapy evals

Every 6 mos or more frequently as needed

Seizures

Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).

At each visit

EEG

At 1st manifestation of symptoms, then as frequently as needed

Monitor those w/seizures as clinically indicated.

Incl assessment & adjustment of anti-seizure medication as needed

Psychiatric
disorders

Psychiatric assessment

At 1st manifestation of symptoms, then as frequently as needed

Sleep disorder

Sleep study/polysomnography

Nutrition

Growth assessment

At each visit in children

Assessment of nutritional status to evaluate dietary requirements

At each visit

Dysphagia

Swallowing assessment to evaluate risk of aspiration

At 1st manifestation of symptoms, then as frequently as needed

Gastrointestinal
manifestations

Gastroenterology eval; gastroscopy if needed

Orthopedic
manifestations

Hip & spine radiographs

Every 6-12 mos in persons:

Who are nonambulatory at age >2 yrs
W/signs/symptoms concerning for spinal deformity

Vision deficits

Ophthalmology eval

At 1st manifestation of symptoms, then as frequently as needed

From: DNAJC6 Parkinson Disease

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

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