Table 8a.

Recommended Surveillance for Individuals with an Autosomal Dominant TRPV4 Neuromuscular Disorder

System/ConcernEvaluationFrequency
Neuropathy Neurologic exam to determine extent of weakness & atrophy, & sensory lossAnnually
PT exam to monitor feet to determine need for bracing, special shoes, &/or surgery
Vocal cord involvement ENT consult w/laryngoscopy
Respiratory dysfunction Dynamic breathing chest x-ray
SNHL Hearing assessment

PT = physical therapy; SNHL = sensorineural hearing loss

From: Autosomal Dominant TRPV4 Disorders

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