Table 3. [SLC6A3-Related Dopamine Transporter Deficiency Syndrome:...]. - GeneReviews®

System/Concern	Evaluation	Comment
Movement disorder	Neurologic assessment of the movement disorder
Orolingual dyskinesia	Eval of caloric intake & feeding by nutritionist Speech-language therapy assessment of swallowing, drooling, & communication	In those w/classic early-onset SLC6A3-related DTDS
Eye movement abnormalities	Ophthalmology assessment of vision & eye movements
Orthopedic	Orthopedic assessment for fixed contractures / joint dislocations Hip & spine x-rays to evaluate for hip dislocation & spinal deformity
Pulmonary	Assess frequency of respiratory infections. Assess for evidence of sleep disturbance due to movement disorder. Consider sleep study to assess nocturnal respiratory pattern.
Gastrointestinal	Assess for vomiting, GERD, & constipation.
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of SLC6A3-related DTDS to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent in those w/early-onset SLC6A3-related DTDS; Social work involvement; Home nursing referral.

System/Concern

Evaluation

Comment

Movement disorder

Neurologic assessment of the movement disorder

Orolingual dyskinesia

Eval of caloric intake & feeding by nutritionist
Speech-language therapy assessment of swallowing, drooling, & communication

In those w/classic early-onset SLC6A3-related DTDS

Eye movement abnormalities

Ophthalmology assessment of vision & eye movements

Orthopedic

Orthopedic assessment for fixed contractures / joint dislocations
Hip & spine x-rays to evaluate for hip dislocation & spinal deformity

Pulmonary

Assess frequency of respiratory infections.
Assess for evidence of sleep disturbance due to movement disorder.
Consider sleep study to assess nocturnal respiratory pattern.

Gastrointestinal

Assess for vomiting, GERD, & constipation.

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of SLC6A3-related DTDS to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent in those w/early-onset SLC6A3-related DTDS;
Social work involvement;
Home nursing referral.

From: SLC6A3-Related Dopamine Transporter Deficiency Syndrome

GeneReviews^® [Internet].

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

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