{"doi":"10.1002/ajmg.a.62197","title":"Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders","abstract":"The hypermobile Ehlers-Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. Each participant has completed seven questionnaires to quantify disease-related symptomatology. People with hypermobility experience a variety of physical and somatic symptoms, especially in the areas of fatigue, kinesiophobia, gastrointestinal, and autonomic function. These cause a significant decrease in health-related quality of life. The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways.","journal":"American Journal of Medical Genetics Part A","year":2021,"id":179315,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":18,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8769,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":726762,"name":"Corina Mauss","orcid":null,"position":1,"is_corresponding":false},{"id":364764,"name":"Jennifer Andrews","orcid":"0000-0002-0064-3933","position":2,"is_corresponding":false},{"id":725401,"name":"Kathylynn Saboda","orcid":"0000-0003-2784-1670","position":3,"is_corresponding":false},{"id":726763,"name":"Julie M. Huynh","orcid":null,"position":4,"is_corresponding":false},{"id":726764,"name":"Alejandro J. Sanoja","orcid":null,"position":5,"is_corresponding":false},{"id":726194,"name":"Rohith Jesudas","orcid":"0000-0002-9481-2581","position":6,"is_corresponding":false},{"id":308560,"name":"Peter H. Byers","orcid":"0000-0001-7786-7030","position":7,"is_corresponding":false},{"id":726195,"name":"Christina M. Laukaitis","orcid":"0000-0003-1466-7941","position":8,"is_corresponding":false},{"id":726193,"name":"Kiana L. Martinez","orcid":"0000-0001-9209-5139","position":0,"is_corresponding":true}],"reference_count":70,"raw_metadata":null,"created_at":"2026-07-18T23:47:44.875897Z","pmid":"33826221","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}