Table 6a.

Recommended Evaluations Following Initial Diagnosis in Individuals with an Autosomal Dominant TRPV4 Neuromuscular Disorder

System/ConcernEvaluationComment
Neurologic Physical/neurologic examTo determine extent of weakness & atrophy, pes cavus, gait stability, & sensory loss
EMG w/NCVAs needed to document status of neuropathy
ENT consult w/laryngoscopyAs needed to document status of vocal folds
Respiratory Pulmonary function testing & dynamic breathing chest x-rayAs needed to assess pulmonary & respiratory function
Audiologic Hearing assessmentSee Hereditary Hearing Loss and Deafness Overview for different types of hearing assessment.
Skeletal Skeletal x-raysTo identify any assoc skeletal dysplasia
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:
  • Community or online resources such as Parent to Parent;
  • Social work involvement for parental support;
  • Home nursing referral;
  • Referral to physiatry, PT, OT, & speech therapy.

EMG = electromyography; NCV = nerve conduction velocity; 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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