Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with DCTN1-Related Neurodegeneration

System/ConcernEvaluationComment
Neurologic Neurologic eval of motor & non-motor function
Pulmonary
  • Sleep study
  • Eval by pulmonologist or sleep disorders consultant for ventilation support if required
Psychiatric
  • Psychiatric eval
  • Neuropsychological exam if indicated
Weight &
nutrition 		Assessment of swallowing & caloric intake
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of DCTN1-related neurodegeneration to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: DCTN1-Related Neurodegeneration

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