Ehlers Dalos Syndrome Essay

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

Additionally, contractures, which hinder the movement of joints, may occur along with the inability to bend the elbows. Heart problems will also occur and by the age of 20, they will become more common. If left untreated, the patients affected will eventually suffer a stroke and die. Emery-Dreifuss patients will also experience abnormal heartbeats that can lead to even slower one. However, the insertion of pacemaker can easily aid to these problems and be lifesaving.

2014). There has also been observed phenotypic heterogeneity among common mutations that ware documented within families, this despite specific phenotypes being associated with those known mutations (Zou et al. 2014). The study performed concludes that EOAD is a highly heritable disease, though not necessarily a polygenic disease like it was originally thought (Wingo et a2012). Due to the high heritability rate found in the study, from 92-100%, it is deduced that EOAD is almost completely based within genetic factors. In the Wingo et al. (2012) study, a concordance of less than 10% was found between parent and their offspring, thus suggesting that EOAD is caused by a single autosomal recessive locus. An explanation for this given is that about 10% is due to the autosomal dominant, while the rest of the cases are either a recessive allele at a single locus or smaller number of loci that presents in women but has less penetrance in males (Wingo et al.

Looking back, there were a lot of things that made more sense following my diagnosis with Ehlers-Danlos Syndrome, commonly referred to as EDS. This is a rare genetic condition separated into six different types; Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, amd Dermatospraxis. There are varying degrees of symptoms and seriousness but a common thread is the defect in the collagen proteins which allow the skin, joints, connective tissues, and organs to function properly. EDS can also lead to many other unrelated diseases or disorders due to the malfunction in the body. The varying types and degrees in which EDS manifests itself makes getting a diagnoses difficult, especially at a young age.

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in $4 joints over a period $3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled

Ehlers Danlos syndrome has many different types with unique qualities. The most dominant type, hypermobility type, causes subluxation, dislocation and even tears in the joints. Vascular type, which is regarded as the most serious type, can cause organ or arterial rupture. Classical type has most of the qualities of Hypermobility type as well as hyperextendability of the skin. This is just to name a few of the six predominant types of EDS.

Over 90 percent of osteogenesis imperfecta cases are caused by mutations in the COL1A1 and COL1A2 genes. These are the genes that provide instructions for making the proteins that are used to build type I collagen—the most abundant protein in bone, skin, and other connective tissues that provide strength, support, and structure to the body. Osteogenesis imperfecta type I is most often caused by mutations in the COL1A1 gene; specifically, genetic changes that reduce the production of type I collagen. This causes bones to be very brittle and fracture easily. As for OI types II, III, and IV, mutations in the COL1A1 and COL1A2 causes alterations in the structure of type I collagen molecules. This defect will weaken connective tissues, predominantly in bone, and result in the typical features of OI. The mutations in the CRTAP and P3H1 genes cause the rare and sometimes severe cases of osteogenesis imperfecta. CRTAP usually classifies type VII, and P3H1 classifies type VIII. The proteins that are produced by these genes work together to create the mature form of collagen molecules. The defects in these molecules lead to weakened connective tissues, which cause severe bone abnormalities and growth problems. Osteogenesis imperfecta types V and VII are found in people without identified mutations in their genes, making the cause of the disorder unknown. Researchers are continually working towards

Mr. Fantastic, the Fantastic Four comic book hero, can stretch himself to staggering proportions before snapping back to normal. But what if that characteristic existed outside the comic book world? Well, it does, but snapping back to normal is not an option for those who have Ehlers-Danlos Syndrome, or EDS. There is very little snapping back for these people. Dealing with their symptoms is a daily struggle. Recognized as far back as 400 B.C. by Hippocrates, the syndrome is named after two physicians. In the early 20th century Edvard Ehlers of Denmark and Henri-Alexandre Danlos of France lent their names to the syndrome, which has many symptoms besides stretchy skin.

When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.

As I entered my freshman year of high school, I prided myself on never being sick. Sure, I got a head cold every now and then but I had not had a stomach bug since the second grade. In November of 2013, I began experiencing what turned into a daily migraine, that would have no relief until January of 2016 when I went 30 minutes without a headache. Soon other medical ailments, including orthostatic intolerance and cyclical vomiting, went alongside these headaches. About two years later, I was diagnosed with Ehlers Danlos Syndrome, a connective tissue disorder which is paired with dysautonomia. Although this was the most frustrating time of my life, it was also the most rewarding.

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary

Ehlers-Danlos Syndrome (EDS) is a collection of heritable connective tissue disorders. Either directly or indirectly, Ehlers-Danlos Syndrome has been known or thought to alter the biology of collagen in the body. There are physical characteristics that are common to all types of Ehlers-Danlos Syndrome, including hypermobile joints (joints that move in greater amounts than expected) and skin involvement, such as any of the following: soft, stretchy, saggy, too thin, easy bruising, easy wounding, poor wound healing and/or atrophic scarring. Each type has very specific and unique features. It is very unlikely to have more than one type of Ehlers-Danlos syndrome, but as they have features and ‘biology’ in common, each type may appear to have

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

Lynch Syndrome is genetically heterogeneous, autosomal, and dominant. Nearly all patients contain a mutation in one of the subsequent four DNA mismatch repair genes: MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6), or PMS1 Homolog 2 (PMS2). 3 In atypical cases, the deletion of the 3’ end of epithelial cellular adhesion molecule gene (EPCAM), located upstream of MSH2, results in epigenetic hypermethylation of the MSH2 promoter resulting in Lynch Syndrome. 2 Figure 1 is a fabricated example of a familial pedigree that contains an autosomal dominant disorder such a Lynch Syndrome.