Table 6b.

Recommended Evaluations Following Initial Diagnosis in Individuals with an Autosomal Dominant TRPV4 Skeletal Dysplasia

System/ConcernEvaluationComment
Skeletal Skeletal x-raysTo document involvement of long bones & spine, which can help determine individual needs & provide baseline for comparison w/future studies
Flexion/extension cervical spine filmsTo determine if there is atlanto-axial instability secondary to odontoid hypoplasia
Respiratory Pulmonary function testing &/or sleep studyIf thorax is particularly narrow &/or kyphoscoliosis is progressive
Audiology Hearing assessmentSee Genetic Hearing Loss Overview for different types of hearing assessment.
Genetic
counseling 		By genetics professionals 1To inform individuals & families re nature, MOI, & implications of TRPV4 disorders to facilitate medical & personal decision making
Family support/
resources 		Assess need for:

MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Autosomal Dominant TRPV4 Disorders

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