Table 7a.

Treatment of Manifestations in Individuals with an Autosomal Dominant TRPV4 Neuromuscular Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Neuropathy
  • Special shoes, incl those w/good ankle support
  • AFO to correct foot drop & aid walking
  • Orthopedic surgery to correct severe pes cavus deformity as needed
  • Forearm crutches, canes/walkers for gait stability, & wheelchairs
  • Exercise w/in person's capability (Many remain physically active.)
Pain & depression Symptomatic treatment
Vocal cord involvement
  • Laryngeal surgery for vocal fold paresis (arytenoidectomy & tracheostomy)
  • Speech therapy
Respiratory dysfunction Respiratory therapy/support (e.g., BiPAP)
SNHL Treatment per hearing loss specialists to determine best habilitation optionsSee Hereditary Hearing Loss and Deafness Overview for discussion of mgmt issues.

AFO = ankle-foot orthosis; BiPAP = bilevel positive airway pressure; SNHL = sensorineural hearing loss

From: Autosomal Dominant TRPV4 Disorders

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