Search results for " joint hypermobility"
showing 2 items of 2 documents
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…
2023
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…
Investigating activity of masticatory muscles in patients with hypermobile temporomandibular joints by using EMG
2014
Background: Temporomandibular joint hypermobility (TMJH) can manifest higher range of motions in mandible. The aim of this study was to investigate and compare the activity of masticatory muscle of TMJs in healthy individuals and patients with mild, moderate and severe TMJH. Material and Methods: In this clinical study, 69 patients (between the ages of 22 to 42) with manifestation of TMJH were included. The patients were divided into three groups based on their maximum mouth opening (MMO): (light) with MMO of 50-55 mm; (moderate) with MMO between 55 to 65 mm; and (severe) with MMO >65 mm. Also, 20 healthy people with profiled tomography in the last 6 months were invited as control group (he…