Table 7b. [Treatment of Manifestations in Individuals with an Autosomal Dominant TRPV4 Skeletal Dysplasia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Contractures	PT/exercise	To maintain as much function as possible
Daily heel cord-stretching exercises	To prevent Achilles tendon shortening
Kyphoscoliosis	Orthopedic eval w/consideration of surgical intervention (e.g., spinal fusion)	If kyphoscoliosis results in pain &/or compromised pulmonary function
Odontoid hypoplasia / Cervical myelopathy	Occipito-cervical or upper cervical decompression & fusion are required to stabilize upper cervical spine & relieve cervical cord compression when upper cervical spine instability is documented or when clinical findings of cervical myelopathy are present.	It is preferred that intervention in children occur when signs of cervical compression are present by MRI (even in absence of symptoms) to minimize neurologic injury & maximize function. Those undergoing surgical fusion typically do well; minor secondary complications can incl pin site infections, pressure sores, & long-term difficulty w/endotracheal intubation.
If myelopathy is suspected: Obtain cervical spine radiographs & MRI; Refer for eval by pediatric orthopedic surgeon or neurosurgeon at tertiary care facility.	Upper cervical instability may result in deteriorating endurance & worsening gait.
SNHL	Treatment per hearing loss specialists to determine best habilitation options	See Hereditary Hearing Loss and Deafness Overview for discussion of mgmt issues.
Pain & depression	Symptomatic treatment	Chronic pain mgmt preceding or following orthopedic surgery is standard & often required.

Manifestation/Concern

Treatment

Considerations/Other

Contractures

PT/exercise

To maintain as much function as possible

Daily heel cord-stretching exercises

To prevent Achilles tendon shortening

Kyphoscoliosis

Orthopedic eval w/consideration of surgical intervention (e.g., spinal fusion)

If kyphoscoliosis results in pain &/or compromised pulmonary function

Odontoid hypoplasia /
Cervical myelopathy

Occipito-cervical or upper cervical decompression & fusion are required to stabilize upper cervical spine & relieve cervical cord compression when upper cervical spine instability is documented or when clinical findings of cervical myelopathy are present.

It is preferred that intervention in children occur when signs of cervical compression are present by MRI (even in absence of symptoms) to minimize neurologic injury & maximize function. Those undergoing surgical fusion typically do well; minor secondary complications can incl pin site infections, pressure sores, & long-term difficulty w/endotracheal intubation.

If myelopathy is suspected:

Obtain cervical spine radiographs & MRI;
Refer for eval by pediatric orthopedic surgeon or neurosurgeon at tertiary care facility.

Upper cervical instability may result in deteriorating endurance & worsening gait.

SNHL

Treatment per hearing loss specialists to determine best habilitation options

See Hereditary Hearing Loss and Deafness Overview for discussion of mgmt issues.

Pain & depression

Symptomatic treatment

Chronic pain mgmt preceding or following orthopedic surgery is standard & often required.

From: Autosomal Dominant TRPV4 Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.