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Mother with rare Ehlers-Danlos syndrome struggles to cuddle her children because her joints 'pop out'

Emily Comber (pictured with husband, James), 31, from Cornwall, has Ehlers-Danlos syndrome - a genetic condition which means the collagen in her body is too weak.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. RESULTS: Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Dan...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. PMID: 29024828 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Niccol ò Paganini (1782–1840), also called “the Devil's violinist” was a famous Italian composer and violin virtuoso. His life was characterized by many ailments: at that time, syphilis and tuberculosis were diagnosed and treated with mercury causing probable side effects on his nervous and mental h ealth, such as insomnia, irritability, headaches [1]. Due to his fingers length and flexibility, some authors speculated he was affected by Marfan [2], or by Ehlers-Danlos syndrome [3]. We focus on Paganini's childhood.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Authors: Syx D, De Wandele I, Rombaut L, Malfait F Abstract Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare ...
Source: Clinical and Experimental Rheumatology - Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research
It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS.
Source: Autonomic Neuroscience: Basic and Clinical - Category: Neuroscience Authors: Source Type: research
Cambridge, MA – September 25, 2017 -- Acer Therapeutics Inc., (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and ultra-rare diseases with critical unmet medical...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Authors: Fukuda Y, Higuchi Y, Shinozaki K, Tanigawa Y, Abe T, Hanaoka N, Matsubayashi S, Yamaguchi T, Kosho T, Nakamichi K Abstract Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal t...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Shoulder dislocation is often the first symptom of Ehlers-Danlos syndrome (EDS). Whether it occurs in early-onset EDS is unknown. In most cases, surgical failure leads to the diagnosis. We aimed to determine whether clinical symptoms can signal the presence of EDS at a first dislocation.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
Vascular Ehlers-Danlos syndrome (vEDS, OMIM 130050) is a rare autosomal dominantly inherited connective tissue disorder characterized by generalized connective tissue fragility. Affected individuals are at risk of arterial rupture, aneurysm, or dissection; gastrointestinal perforation or rupture; and uterine rupture during pregnancy. The disease is caused by structural defects in the pro α1(III) chain of collagen type III encoded by the COL3A1 gene. Here we present a vEDS patient with complex severe clinical symptoms, and data of full-gene Sanger sequencing of COL3A1 revealing a previously unreported heterozygous var...
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetics and Cell Based Therapy Source Type: research
Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
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