Table 5.

Treatment of Manifestations in Individuals with TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

Manifestation/ConcernTreatmentConsiderations/Other
Developmental Developmental support incl PT, OT, & speech therapyConsider ABA therapy in cases of ASD.
Motor & orthopedic
abnormalities 		Consider ankle-foot orthoses & other braces.
Gastroesophageal
reflux 		Antacids, H2 blockers, or proton pump inhibitors
Aspiration Gastrostomy tube w/or w/o fundoplicationIf dysphagia or aspiration are present, consider aspiration precautions (i.e., avoidance of certain food consistencies or nothing by mouth).
Asphyxia Avoid solid foods that can lodge in trachea & cause asphyxia.
Chronic lung disease Routine chest physiotherapy & cough assist devices
Nocturnal central
hypo-/apnea 		Consider continuous nighttime pulse oximetry &/or nighttime noninvasive ventilation.
Nocturnal obstructive
hypo-/apnea 		Consider adenoidectomy / tonsillectomy if obstructive sleep apnea is present.
Ocular Adjust glasses to correct refraction errors & strabismus.In some cases, surgical repair of strabismus may also be considered.
Seizures Anti-seizure medication

ABA = applied behavioral analysis; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

From: TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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.