Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type-Reference-Cited by-同舟云学术

Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type

Published:2023-05-27 Issue:6 Volume:14 Page:1173
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Uehara Masashi¹^ORCID,Takahashi Jun¹,Kosho Tomoki²³⁴⁵^ORCID

Affiliation:

1. Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto 390-8621, Nagano, Japan

2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, Nagano, Japan

3. Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Nagano, Japan

4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Nagano, Japan

5. Division of Instrumental Analysis, Research Center for Advanced Science and Technology, Shinshu University, Matsumoto 390-8621, Nagano, Japan

Abstract

Spinal deformity in Ehlers–Danlos syndrome (EDS) is an important symptom that can lead to trunk balance deterioration, respiratory dysfunction, and digestive disorders as the deformity progresses, thereby reducing a patient’s quality of life and activities of daily living. The severity of the deformity varies widely, with treatment depending on the extent and the presence of associated complications. The present review addressed the current state of clinical research and treatment of spinal deformities in EDS with a specific focus on the musculocontractural type. Further studies are needed to better understand the underlying mechanisms of spinal deformity in EDS.

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/14/6/1173/pdf

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