Ehlers-Danlos syndrome

Ehlers- Danlos Syndrome (EDS) is a rare connective tissue disorder. There are six different types of EDS, all with varying degrees of signs and symptoms. The key signs that patients with EDS display are overly hypermobile joints, skin elasticity, and abnormal vasculature, which is seen in some types of the condition. The life of a patient with EDS can be very frustrating because many doctors and physical therapists do not have a good knowledge base to help treat and control the condition. Pain management is very important for EDS patients because most are in pain on a daily basis. This disorder affects daily life, especially in athletes. Athletes who are diagnosed must be extremely cautious when competing in sporting events, while some are…

If you frequently dislocate your joints and have eye problems, the issues may be medical related. Frequent dislocation of joints may be caused by a connective tissue disorder called Ehlers-Danlos syndrome, which is due to a genetic mutation of the collagen in nearly each of your body's cells. Other common symptoms of EDS include muscle stiffness and tightness, popping or clicking joints when moving, and clumsiness. Now, you may be wondering how can these issues relate to the eyes. It's because…

Imagine getting dislocated joints and sunburns really easily. That’s what people with Ehlers Danlos Syndrome (EDS) get easy. EDS is a genetic disorder that affect the joints and skin. There are 6 different types of this disease, Classical type, Hypermobility type, Kyphoscoliosis type, Arthrochlasia type, and the Dermatosparaxis type. The mutations for this disease happens on these chromosomes, the Classical type is mostly on chromosome 9 or 2, the hypermobility type is on chromosome 6, the…

A Progress Note dated 04/11/2017, by Neha Shah, M.D. (Immunology), stated that the patient presented with an Ehlers-Danlos syndrome. She had been feeling better. Her energy has been improved a little. She was able to walk and sit down. The patient complained of intermittent bone pain (long bones). Her review of systems was positive for joint issues, nocturnal urination, trouble falling back to sleep, fatigue, weight gain (30-40 pounds over the last 2 years), constipation, dyspepsia, fever, night…

This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that…

Mohammad Ekrama Biology 22 Professor Clark 1october 2016 Christianson Syndrome Abstract: Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually…

disabilities, what sickle cell does in children with neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…