My symptoms are split between vascular and classical types. DNA and biochemical studies can help identify affected individuals.
Some people with EDS also show a resistance to local anaesthetics. [3] Excess mobility was first described by Hippocrates in 400 BC.
[64], Musculocontractural EDS is characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot), characteristic craniofacial features, which are evident at birth or in early infancy, and skin features such as skin hyperextensibility, bruising, skin fragility with atrophic scars, and increased palmar wrinkling. American Journal of Medical Genetics Part A. I want my experiences to be used to help others. Parents with only one copy of the faulty gene are carriers of mcEDS and likely have no symptoms. [4] It can be caused by variations in the TNXB gene. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. [46] Knowledge about EDS among all kinds of practitioners is poor. [90], Many sideshow performers have EDS. We use cookies to help provide and enhance our service and tailor content and ads. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The second patient has a phenotype consistent with previously reported cases of DSE associated musculocontractural EDS.
Copyright © 2020 Elsevier B.V. or its licensors or contributors. [55] The hyperelasticity of skin in EDS patients can be difficult to use in diagnosis because there is no good standardized way to measure and assess the elasticity of the skin.
Additional symptoms of mcEDS include: Distinctive craniofacial disfigurement; Severe bent thumbs and fingers; Club feet ; Severe spinal curvature; Low muscle tone; Wrinkled palms; Eye problems; 8.
Emotional support along with behavioral and psychological therapy can be useful.
Children with EDS should be provided with information about their disorder so they can understand why they should avoid contact sports and other physically stressful activities.
Some other cases can be caused by variations in the DSE gene. The weak connective tissue causes abnormal skin. For example, fewer than 10 infants and children with dermatosparaxis EDS have been described worldwide. [1] Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy. A few mutations have been identified in the DSE gene in patients with a similar phenotype. It is caused by pathogenic variants in CHST14 and DSE genes. To describe mcEDS, I would say that it’s two separate conditions put into one: arthrogryposis and EDS. They included such well-known individuals (in their time) as Felix Wehrle, James Morris, and Avery Childs.
There are special recommendations for anesthesia in people with EDS. It is extremely rare, with around 11 cases reported. Although I am right handed, the fingers on my right hand don’t open more than 2 inches and I’m unable to pick anything up with that hand. The Beighton criteria are widely used to assess the degree of joint hypermobility. So many things made sense. Physiotherapy can help strengthen muscles.
A novel homozygous missense DSE variant of uncertain clinical significance was detected. [4] Eight minor criteria may also contribute to the diagnosis of pEDS. [61], Brittle cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. April 23, 2020 May 30, 2020. by Marta Figueiredo. | [4] It can be caused by the variations in the COL3A1 gene.
She worked as the Research Communication Officer at a London based charity for almost two years. Apart from requiring life-saving treatment, I was floppy, and also had major obvious deformities of my limbs and dislocated hips.
It may lead to frequent joint subluxations (partial dislocations) and dislocations. A few are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by a disorder. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal.
[50] Cardiac-valvular EDS is an autosomal recessive disorder, inherited through variation in both alleles of the gene COL1A2. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. The cases were reported in “Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency,” a study published in the journal Molecular Genetics and Genomic Medicine. [91], Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats,[101] and certain breeds of cattle.
A side complication of the hyperelasticity presented in many cases of EDS makes it more difficult for wounds to close on their own[17]. I also speak to student nurses about my experiences with mental and physical illness and am a Support Worker for those who are struggling and in respite care for mental health issues.
The most commonly occurring is hypermobile EDS, followed by classical EDS. My 4 yr old daughter received a EDS-MC1 diagnosis last week after 2.5 years of genetic testing, etc. [4] According to The Ehlers-Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. I spent 10 weeks in NICU and was diagnosed with Arthrogryposis at birth.
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